Variant report

Variant	nsv535769
Chromosome Location	chr2:64369300-64513607
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2589)
CpG islands
(count:1831)
Chromatin interactive
region (count:92)
LncRNA
region (count:71)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2589 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:64439610-64439846	K562	blood:	n/a	n/a
2	ARID3A	chr2:64462070-64462192	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:64444467-64444714	K562	blood:	n/a	n/a
4	ARID3A	chr2:64487836-64488166	K562	blood:	n/a	n/a
5	ARID3A	chr2:64371361-64371818	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:64385678-64385988	HepG2	liver:	n/a	n/a
7	ATF1	chr2:64487940-64488263	K562	blood:	n/a	n/a
8	ATF1	chr2:64439510-64439772	K562	blood:	n/a	n/a
9	ATF1	chr2:64470790-64470958	K562	blood:	n/a	n/a
10	ATF1	chr2:64440044-64440506	K562	blood:	n/a	n/a
11	ATF1	chr2:64371444-64371922	K562	blood:	n/a	n/a
12	ATF2	chr2:64478584-64479036	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr2:64439935-64442315	GM12878	blood:	n/a	n/a
14	ATF2	chr2:64503402-64504685	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr2:64487909-64488356	GM12878	blood:	n/a	n/a
16	ATF2	chr2:64419188-64419958	GM12878	blood:	n/a	n/a
17	ATF2	chr2:64419195-64419599	GM12878	blood:	n/a	n/a
18	ATF2	chr2:64494849-64495276	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF2	chr2:64487867-64488233	GM12878	blood:	n/a	n/a
20	ATF2	chr2:64434647-64435060	GM12878	blood:	n/a	n/a
21	ATF2	chr2:64406848-64407443	GM12878	blood:	n/a	n/a
22	ATF2	chr2:64406663-64407392	GM12878	blood:	n/a	n/a
23	ATF2	chr2:64439905-64440534	GM12878	blood:	n/a	n/a
24	ATF2	chr2:64440817-64442362	GM12878	blood:	n/a	n/a
25	ATF2	chr2:64510058-64511256	GM12878	blood:	n/a	n/a
26	ATF2	chr2:64369889-64370817	GM12878	blood:	n/a	n/a
27	ATF2	chr2:64431077-64431903	GM12878	blood:	n/a	n/a
28	ATF2	chr2:64503466-64504760	H1-hESC	embryonic stem cell:	n/a	n/a
29	ATF2	chr2:64478246-64479168	H1-hESC	embryonic stem cell:	n/a	n/a
30	ATF2	chr2:64371167-64371925	GM12878	blood:	n/a	n/a
31	ATF2	chr2:64431113-64432008	GM12878	blood:	n/a	n/a
32	ATF2	chr2:64369954-64370701	GM12878	blood:	n/a	n/a
33	ATF3	chr2:64479777-64480075	K562	blood:	n/a	n/a
34	BACH1	chr2:64504674-64504864	K562	blood:	n/a	n/a
35	BACH1	chr2:64416374-64416484	H1-hESC	embryonic stem cell:	n/a	n/a
36	BACH1	chr2:64504316-64504948	H1-hESC	embryonic stem cell:	n/a	n/a
37	BACH1	chr2:64370926-64370927	H1-hESC	embryonic stem cell:	n/a	n/a
38	BACH1	chr2:64479899-64479984	H1-hESC	embryonic stem cell:	n/a	n/a
39	BACH1	chr2:64380133-64380142	H1-hESC	embryonic stem cell:	n/a	n/a
40	BACH1	chr2:64440159-64440215	H1-hESC	embryonic stem cell:	n/a	n/a
41	BACH1	chr2:64485758-64485792	H1-hESC	embryonic stem cell:	n/a	n/a
42	BACH1	chr2:64455384-64455821	H1-hESC	embryonic stem cell:	n/a	n/a
43	BACH1	chr2:64404670-64404815	H1-hESC	embryonic stem cell:	n/a	n/a
44	BATF	chr2:64407012-64407275	GM12878	blood:	n/a	chr2:64407148-64407159 chr2:64407139-64407148
45	BATF	chr2:64431300-64431692	GM12878	blood:	n/a	n/a
46	BATF	chr2:64406971-64407410	GM12878	blood:	n/a	chr2:64407148-64407159 chr2:64407139-64407148
47	BATF	chr2:64510602-64511014	GM12878	blood:	n/a	n/a
48	BATF	chr2:64439942-64440462	GM12878	blood:	n/a	n/a
49	BATF	chr2:64441047-64441379	GM12878	blood:	n/a	n/a
50	BATF	chr2:64440793-64442081	GM12878	blood:	n/a	n/a

(count:1831 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:64472941-64472991	Caco-2	colon:	n/a
2	chr2:64472941-64472991	Caco-2	colon:	n/a
3	chr2:64371511-64371561	NH-A	brain:	n/a
4	chr2:64455397-64455447	NT2-D1	testis:	n/a
5	chr2:64455551-64455601	T-47D	breast:	n/a
6	chr2:64501134-64501184	ovcar-3	ovarian:	n/a
7	chr2:64371530-64371580	PANC-1	pancreas:	n/a
8	chr2:64371530-64371580	GM12892	blood:	n/a
9	chr2:64488961-64489011	GM12892	blood:	n/a
10	chr2:64371810-64371860	BE2_C	brain:	n/a
11	chr2:64447091-64447141	HUVEC	blood vessel:	n/a
12	chr2:64477485-64477535	GM12892	blood:	n/a
13	chr2:64371530-64371580	BJ	skin:	n/a
14	chr2:64371202-64371252	HPAEpiC	pulmonary alveolar:	n/a
15	chr2:64372160-64372210	PANC-1	pancreas:	n/a
16	chr2:64371651-64371701	HRCEpiC	kidney:	n/a
17	chr2:64506975-64507025	HPAEpiC	pulmonary alveolar:	n/a
18	chr2:64371810-64371860	HMEC	breast:	n/a
19	chr2:64455515-64455565	AG09319	gingival:	n/a
20	chr2:64494859-64494909	HEEpiC	esophagus:	n/a
21	chr2:64372160-64372210	HAEpiC	amniotic membrane:	n/a
22	chr2:64455397-64455447	MCF-7	breast:	n/a
23	chr2:64506975-64507025	GM12892	blood:	n/a
24	chr2:64371643-64371693	U87	brain:	n/a
25	chr2:64371651-64371701	RPTEC	kidney:	n/a
26	chr2:64371766-64371816	NH-A	brain:	n/a
27	chr2:64455397-64455447	HCF	heart:	n/a
28	chr2:64494859-64494909	HCPEpiC	choroid plexus:	n/a
29	chr2:64485830-64485880	K562	blood:	n/a
30	chr2:64455397-64455447	HIPEpiC	eye:	n/a
31	chr2:64455551-64455601	HAEpiC	amniotic membrane:	n/a
32	chr2:64431245-64431295	SK-N-MC	brain:	n/a
33	chr2:64440295-64440345	NB4	blood:	n/a
34	chr2:64371680-64371730	U87	brain:	n/a
35	chr2:64431245-64431295	Jurkat	blood:	n/a
36	chr2:64371766-64371816	SKMC	muscle:	n/a
37	chr2:64375257-64375307	T-47D	breast:	n/a
38	chr2:64494859-64494909	HL-60	blood:	n/a
39	chr2:64455515-64455565	HRCEpiC	kidney:	n/a
40	chr2:64431470-64431520	HMEC	breast:	n/a
41	chr2:64485830-64485880	HCF	heart:	n/a
42	chr2:64371511-64371561	AG04449	skin:	fetal
43	chr2:64447091-64447141	ovcar-3	ovarian:	n/a
44	chr2:64455515-64455565	HPAEpiC	pulmonary alveolar:	n/a
45	chr2:64370690-64370740	HCM	heart:	n/a
46	chr2:64371175-64371225	NHBE	bronchial:	n/a
47	chr2:64371651-64371701	ovcar-3	ovarian:	n/a
48	chr2:64431245-64431295	AG04449	skin:	fetal
49	chr2:64477485-64477535	SAEC	small airway:	n/a
50	chr2:64372160-64372210	PrEC	prostate:	n/a

(count:92 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:64501057..64502720-chr2:64535890..64537739,2	MCF-7	breast:
2	chr2:64440052..64441742-chr2:64449595..64451315,2	K562	blood:
3	chr2:64419508..64423529-chr2:64424366..64426976,3	K562	blood:
4	chr2:64488028..64492838-chr2:64495770..64499229,4	K562	blood:
5	chr2:64364848..64367647-chr2:64381167..64383124,2	K562	blood:
6	chr2:64419508..64423529-chr2:64424366..64426976,3	K562	blood:
7	chr2:64462411..64463958-chr2:64471298..64472836,2	MCF-7	breast:
8	chr2:64371841..64374701-chr2:64382172..64383968,2	MCF-7	breast:
9	chr2:64401304..64403227-chr2:64446509..64448763,2	MCF-7	breast:
10	chr2:64379660..64382611-chr2:64384474..64386718,2	MCF-7	breast:
11	chr2:64395283..64397063-chr2:64404889..64407856,2	K562	blood:
12	chr2:64372416..64375207-chr2:64375466..64377238,2	K562	blood:
13	chr2:64397314..64401129-chr2:64404322..64406601,3	MCF-7	breast:
14	chr2:64444742..64447854-chr2:64452172..64455370,3	K562	blood:
15	chr2:64489082..64492227-chr2:64492884..64497005,5	MCF-7	breast:
16	chr2:64369678..64373825-chr2:64377273..64380077,4	MCF-7	breast:
17	chr2:64445982..64446909-chr6:6687110..6688056,2	NB4	blood:
18	chr2:64464241..64466664-chr2:64467503..64470647,3	MCF-7	breast:
19	chr2:64471845..64474737-chr2:64476534..64479111,2	MCF-7	breast:
20	chr2:64369311..64371473-chr2:64379751..64381552,2	K562	blood:
21	chr2:64471845..64474737-chr2:64476534..64479111,2	MCF-7	breast:
22	chr2:64443138..64444766-chr2:64466120..64468128,2	K562	blood:
23	chr2:64438408..64440194-chr2:64451876..64454723,2	K562	blood:
24	chr2:64371127..64371648-chr3:169482551..169483132,2	Hela-S3	cervix:
25	chr2:64490659..64493693-chr2:64499650..64502494,3	MCF-7	breast:
26	chr2:64369156..64371236-chr2:64440535..64442538,2	K562	blood:
27	chr2:64391692..64394480-chr2:64396237..64398356,2	K562	blood:
28	chr2:64368580..64371469-chr2:64483320..64485909,2	K562	blood:
29	chr2:64443138..64444766-chr2:64466120..64468128,2	K562	blood:
30	chr2:64437286..64442036-chr2:64442990..64448045,5	K562	blood:
31	chr2:64368361..64371459-chr2:64452988..64456076,3	K562	blood:
32	chr2:64507097..64508875-chr2:64512473..64514723,2	K562	blood:
33	chr2:64370065..64372798-chr2:64488901..64490869,2	MCF-7	breast:
34	chr2:64245248..64247097-chr2:64369855..64371570,2	MCF-7	breast:
35	chr2:64437286..64442036-chr2:64442990..64448045,5	K562	blood:
36	chr2:64507097..64508875-chr2:64512473..64514723,2	K562	blood:
37	chr2:64456564..64459506-chr2:64461164..64463105,2	K562	blood:
38	chr2:64397314..64401129-chr2:64404322..64406601,3	MCF-7	breast:
39	chr2:64465774..64467528-chr2:64473561..64475230,2	MCF-7	breast:
40	chr2:64440248..64442569-chr2:64454181..64456930,3	K562	blood:
41	chr2:64509519..64512116-chr2:64514546..64516587,2	K562	blood:
42	chr2:64370196..64372513-chr2:64398892..64401287,2	MCF-7	breast:
43	chr2:64494301..64495818-chr2:64498952..64501759,2	MCF-7	breast:
44	chr2:64395283..64397063-chr2:64404889..64407856,2	K562	blood:
45	chr2:64404382..64407002-chr2:64408680..64411015,2	K562	blood:
46	chr2:64376170..64379068-chr2:64379402..64380977,2	K562	blood:
47	chr2:64379005..64381550-chr2:64383092..64384987,2	K562	blood:
48	chr19:12902085..12902808-chr2:64371127..64371837,2	NB4	blood:
49	chr2:64391692..64394480-chr2:64396237..64398356,2	K562	blood:
50	chr2:64464241..64466664-chr2:64467503..64470647,3	MCF-7	breast:

(count:71 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LGALSL-2	chr2:64456631-64456774	ENSG00000225889
2	lnc-PELI1-6	chr2:64422173-64422286	ucscGeneNc_uc002scw_2
3	lnc-LGALSL-2	chr2:64441601-64441668	ENSG00000225889.3
4	lnc-LGALSL-2	chr2:64456631-64456739	ENSG00000225889.3
5	lnc-PELI1-2	chr2:64411124-64411305	NONHSAT071092
6	lnc-LGALSL-2	chr2:64428882-64429028	ENSG00000225889
7	lnc-LGALSL-2	chr2:64441601-64441668	ENSG00000225889
8	lnc-PELI1-2	chr2:64412212-64412876	NONHSAT071093
9	lnc-PELI1-2	chr2:64412663-64412769	NONHSAT071092
10	lnc-PELI1-3	chr2:64503965-64503985	XLOC_002124
11	lnc-LGALSL-2	chr2:64453581-64453626	ENSG00000225889.3
12	lnc-LGALSL-2	chr2:64478253-64478489	ENSG00000225889
13	lnc-LGALSL-2	chr2:64434109-64434179	ENSG00000225889
14	lnc-PELI1-2	chr2:64430127-64430222	NONHSAT071093
15	lnc-LGALSL-2	chr2:64455337-64455710	NONHSAT071099
16	lnc-PELI1-2	chr2:64412215-64412876	XLOC_002123
17	lnc-LGALSL-2	chr2:64434106-64434179	ENSG00000225889
18	lnc-LGALSL-2	chr2:64456631-64456739	ENSG00000225889
19	lnc-PELI1-8	chr2:64456631-64456774	NONHSAT071095
20	lnc-PELI1-2	chr2:64430424-64432619	XLOC_002123
21	lnc-LGALSL-1	chr2:64501019-64501181	XLOC_001496
22	lnc-LGALSL-2	chr2:64456631-64456781	NONHSAT071099
23	lnc-PELI1-2	chr2:64412043-64412049	NONHSAT071093
24	lnc-PELI1-2	chr2:64412213-64412876	NR_033837
25	lnc-PELI1-2	chr2:64430424-64432619	NONHSAT071093
26	lnc-LGALSL-2	chr2:64455557-64455656	ENSG00000225889
27	lnc-PELI1-2	chr2:64416151-64416266	XLOC_002123
28	lnc-PELI1-8	chr2:64458202-64458974	NONHSAT071095
29	lnc-VPS54-4	chr2:64371215-64371554	NONHSAT071089
30	lnc-PELI1-2	chr2:64416151-64416266	NONHSAT071093
31	lnc-PELI1-3	chr2:64503035-64503717	XLOC_002124
32	lnc-PELI1-6	chr2:64418705-64418995	NONHSAT071094
33	lnc-LGALSL-2	chr2:64428882-64429028	ENSG00000225889.3
34	lnc-LGALSL-7	chr2:64481866-64482002	NONHSAT071104
35	lnc-PELI1-8	chr2:64436544-64436839	NONHSAT071095
36	lnc-PELI1-2	chr2:64430127-64430222	NR_033837
37	lnc-PELI1-2	chr2:64419490-64419592	NONHSAT071093
38	lnc-LGALSL-2	chr2:64453581-64453626	ENSG00000225889
39	lnc-PELI1-2	chr2:64419490-64419592	XLOC_002123
40	lnc-PELI1-8	chr2:64433592-64433692	NONHSAT071095
41	lnc-LGALSL-2	chr2:64434106-64434179	ENSG00000225889.3
42	lnc-LGALSL-2	chr2:64455587-64455656	ENSG00000225889
43	lnc-PELI1-2	chr2:64428362-64428492	XLOC_002123
44	lnc-PELI1-6	chr2:64422173-64422285	NONHSAT071094
45	lnc-LGALSL-2	chr2:64455602-64455656	NONHSAT071103
46	lnc-LGALSL-2	chr2:64456631-64456774	ENSG00000225889
47	lnc-LGALSL-7	chr2:64483043-64483311	NONHSAT071104
48	lnc-PELI1-2	chr2:64428362-64428492	NR_033837
49	lnc-LGALSL-2	chr2:64370373-64370480	ENSG00000225889
50	lnc-VPS54-4	chr2:64370452-64370660	NONHSAT071090

No data

Variant related genes	Relation type
ENSG00000270354	TF binding region
LINC00309	TF binding region
PELI1	TF binding region
ENSG00000225889	TF binding region
ENSG00000270354	CpG island
LINC00309	CpG island
PELI1	CpG island
ENSG00000225889	CpG island
ENSG00000143952	chromatin interactions
ENSG00000225889	chromatin interactions
ENSG00000197329	chromatin interactions
ENSG00000270141	chromatin interactions
ENSG00000171223	chromatin interactions
ENSG00000230923	chromatin interactions
UBE2D2	miRNA target sites
SEC23A	miRNA target sites
FUBP3	miRNA target sites
IPPK	miRNA target sites
PRDM1	miRNA target sites
CEBPZ	miRNA target sites
CDK9	miRNA target sites
SIRT1	miRNA target sites
INSIG1	miRNA target sites
PLK2	miRNA target sites
LBR	miRNA target sites
RANBP2	miRNA target sites
ITGA6	miRNA target sites
MAGEA12	miRNA target sites
VDAC2	miRNA target sites
KIAA1549	miRNA target sites
LATS2	miRNA target sites

Extended variants
information (count: 5404 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:5404 , 50 per page) page: 1 2 3 4 5 6 7 ... 109

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72893175	chr2:64369319-64369320	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs10496107	chr2:64369336-64369337	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs192833470	chr2:64369343-64369344	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs539656733	chr2:64369383-64369384	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs76647608	chr2:64369492-64369493	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs144656334	chr2:64369509-64369510	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs368594237	chr2:64369521-64369522	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs116358612	chr2:64369558-64369559	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs543922483	chr2:64369606-64369607	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs17028513	chr2:64369696-64369697	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs372018314	chr2:64369701-64369702	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs184967738	chr2:64369724-64369725	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs532254345	chr2:64369739-64369740	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs188086040	chr2:64369759-64369760	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs72893180	chr2:64369763-64369764	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs192884557	chr2:64369785-64369786	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs183766027	chr2:64369807-64369808	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs563528547	chr2:64369850-64369851	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs530603603	chr2:64369889-64369890	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs549102600	chr2:64369938-64369939	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs567250107	chr2:64370013-64370014	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs147639478	chr2:64370035-64370036	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs546150071	chr2:64370066-64370067	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs566049664	chr2:64370082-64370083	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs188145501	chr2:64370113-64370114	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs558144635	chr2:64370117-64370118	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs376478018	chr2:64370150-64370151	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs570262611	chr2:64370199-64370200	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs36060412	chr2:64370210-64370211	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs142315155	chr2:64370220-64370221	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs181888277	chr2:64370243-64370244	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs143109653	chr2:64370247-64370248	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs79947872	chr2:64370311-64370312	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs566584826	chr2:64370338-64370339	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs578055848	chr2:64370375-64370376	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs533839847	chr2:64370393-64370394	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
37	rs72893181	chr2:64370394-64370395	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
38	rs530781178	chr2:64370445-64370446	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
39	rs542413302	chr2:64370468-64370469	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
40	rs561050094	chr2:64370493-64370494	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
41	rs148250182	chr2:64370518-64370519	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
42	rs184561568	chr2:64370554-64370555	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs140162950	chr2:64370570-64370571	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs12477310	chr2:64370586-64370587	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs531963412	chr2:64370599-64370600	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs552088696	chr2:64370647-64370648	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs374953143	chr2:64370676-64370677	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs368727196	chr2:64370689-64370690	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs73935074	chr2:64370696-64370697	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs562674854	chr2:64370703-64370704	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:3923 , 50 per page) page: 1 2 3 4 5 6 7 ... 79

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64340400-64370200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:64357200-64369600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:64361800-64370000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr2:64362600-64370000	Weak transcription	Ovary	ovary
5	chr2:64364000-64370000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:64364000-64370400	Weak transcription	Lung	lung
7	chr2:64365400-64370800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:64365600-64370000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:64365600-64370000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:64365600-64370000	Weak transcription	Placenta	Placenta
11	chr2:64365600-64370000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:64365800-64370200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:64365800-64370400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:64365800-64370400	Weak transcription	Esophagus	oesophagus
15	chr2:64366400-64371800	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr2:64366600-64370000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr2:64366800-64371200	Active TSS	Right Atrium	heart
18	chr2:64367000-64370200	Weak transcription	Left Ventricle	heart
19	chr2:64367000-64370600	Weak transcription	Gastric	stomach
20	chr2:64367200-64372400	Active TSS	GM12878-XiMat	blood
21	chr2:64367800-64370200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr2:64368200-64369400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr2:64368200-64371800	Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr2:64368200-64372000	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr2:64368600-64369400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr2:64368600-64369400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr2:64368600-64369400	Flanking Active TSS	Fetal Brain Female	brain
28	chr2:64368600-64369400	Flanking Active TSS	HUVEC	blood vessel
29	chr2:64368600-64369600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:64368600-64369800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr2:64368600-64369800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr2:64368600-64369800	Flanking Active TSS	HepG2	liver
33	chr2:64368600-64370000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:64368600-64370200	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr2:64368600-64370400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:64368600-64370400	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr2:64368600-64370600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:64368600-64370600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:64368600-64371600	Active TSS	Fetal Muscle Leg	muscle
40	chr2:64368600-64371800	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr2:64368600-64372000	Active TSS	Brain Angular Gyrus	brain
42	chr2:64368800-64369400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr2:64368800-64369400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr2:64368800-64369400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:64368800-64369400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr2:64368800-64369400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:64368800-64369400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:64368800-64369400	Enhancers	HSMMtube	muscle
49	chr2:64368800-64369600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr2:64368800-64369800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links