Variant report

Variant	esv13275
Chromosome Location	chr2:64342247-64515169
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2858)
CpG islands
(count:1953)
Chromatin interactive
region (count:115)
LncRNA
region (count:71)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2858 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:64487836-64488166	K562	blood:	n/a	n/a
2	ARID3A	chr2:64362169-64362173	K562	blood:	n/a	n/a
3	ARID3A	chr2:64385678-64385988	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:64444467-64444714	K562	blood:	n/a	n/a
5	ARID3A	chr2:64462070-64462192	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:64360945-64361218	K562	blood:	n/a	n/a
7	ARID3A	chr2:64371361-64371818	HepG2	liver:	n/a	n/a
8	ARID3A	chr2:64342846-64343283	HepG2	liver:	n/a	n/a
9	ARID3A	chr2:64356051-64356363	HepG2	liver:	n/a	n/a
10	ARID3A	chr2:64439610-64439846	K562	blood:	n/a	n/a
11	ATF1	chr2:64440044-64440506	K562	blood:	n/a	n/a
12	ATF1	chr2:64371444-64371922	K562	blood:	n/a	n/a
13	ATF1	chr2:64487940-64488263	K562	blood:	n/a	n/a
14	ATF1	chr2:64439510-64439772	K562	blood:	n/a	n/a
15	ATF1	chr2:64470790-64470958	K562	blood:	n/a	n/a
16	ATF2	chr2:64487909-64488356	GM12878	blood:	n/a	n/a
17	ATF2	chr2:64503466-64504760	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF2	chr2:64439905-64440534	GM12878	blood:	n/a	n/a
19	ATF2	chr2:64431113-64432008	GM12878	blood:	n/a	n/a
20	ATF2	chr2:64419188-64419958	GM12878	blood:	n/a	n/a
21	ATF2	chr2:64503402-64504685	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF2	chr2:64371167-64371925	GM12878	blood:	n/a	n/a
23	ATF2	chr2:64439935-64442315	GM12878	blood:	n/a	n/a
24	ATF2	chr2:64478246-64479168	H1-hESC	embryonic stem cell:	n/a	n/a
25	ATF2	chr2:64431077-64431903	GM12878	blood:	n/a	n/a
26	ATF2	chr2:64494849-64495276	H1-hESC	embryonic stem cell:	n/a	n/a
27	ATF2	chr2:64434647-64435060	GM12878	blood:	n/a	n/a
28	ATF2	chr2:64419195-64419599	GM12878	blood:	n/a	n/a
29	ATF2	chr2:64440817-64442362	GM12878	blood:	n/a	n/a
30	ATF2	chr2:64369954-64370701	GM12878	blood:	n/a	n/a
31	ATF2	chr2:64406848-64407443	GM12878	blood:	n/a	n/a
32	ATF2	chr2:64487867-64488233	GM12878	blood:	n/a	n/a
33	ATF2	chr2:64478584-64479036	H1-hESC	embryonic stem cell:	n/a	n/a
34	ATF2	chr2:64369889-64370817	GM12878	blood:	n/a	n/a
35	ATF2	chr2:64510058-64511256	GM12878	blood:	n/a	n/a
36	ATF2	chr2:64406663-64407392	GM12878	blood:	n/a	n/a
37	ATF3	chr2:64479777-64480075	K562	blood:	n/a	n/a
38	BACH1	chr2:64485758-64485792	H1-hESC	embryonic stem cell:	n/a	n/a
39	BACH1	chr2:64416374-64416484	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	chr2:64404670-64404815	H1-hESC	embryonic stem cell:	n/a	n/a
42	BACH1	chr2:64479899-64479984	H1-hESC	embryonic stem cell:	n/a	n/a
43	BACH1	chr2:64370926-64370927	H1-hESC	embryonic stem cell:	n/a	n/a
44	BACH1	chr2:64504316-64504948	H1-hESC	embryonic stem cell:	n/a	n/a
45	BACH1	chr2:64455384-64455821	H1-hESC	embryonic stem cell:	n/a	n/a
46	BACH1	chr2:64504674-64504864	K562	blood:	n/a	n/a
47	BACH1	chr2:64380133-64380142	H1-hESC	embryonic stem cell:	n/a	n/a
48	BATF	chr2:64431300-64431692	GM12878	blood:	n/a	n/a
49	BATF	chr2:64439942-64440462	GM12878	blood:	n/a	n/a
50	BATF	chr2:64406971-64407410	GM12878	blood:	n/a	chr2:64407148-64407159 chr2:64407139-64407148

(count:1953 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:64514663-64514713	T-47D	breast:	n/a
2	chr2:64514663-64514713	T-47D	breast:	n/a
3	chr2:64371810-64371860	MCF10A-Er-Src	breast:	n/a
4	chr2:64371810-64371860	MCF-7	breast:	n/a
5	chr2:64506975-64507025	GM12892	blood:	n/a
6	chr2:64371651-64371701	A549	lung:	n/a
7	chr2:64494859-64494909	SAEC	small airway:	n/a
8	chr2:64440295-64440345	SKMC	muscle:	n/a
9	chr2:64373042-64373092	ProgFib	skin:	n/a
10	chr2:64371202-64371252	AG04450	lung:	fetal
11	chr2:64472941-64472991	HCM	heart:	n/a
12	chr2:64371646-64371696	HCM	heart:	n/a
13	chr2:64440295-64440345	AG10803	skin:	n/a
14	chr2:64371175-64371225	Hepatocyte	liver:	n/a
15	chr2:64371511-64371561	SKMC	muscle:	n/a
16	chr2:64399578-64399628	MCF-7	breast:	n/a
17	chr2:64373042-64373092	HepG2	liver:	n/a
18	chr2:64356545-64356595	HCF	heart:	n/a
19	chr2:64375257-64375307	HCF	heart:	n/a
20	chr2:64371651-64371701	GM12891	blood:	n/a
21	chr2:64494859-64494909	HEK293	kidney:	embryo
22	chr2:64472941-64472991	A549	lung:	n/a
23	chr2:64373042-64373092	HEEpiC	esophagus:	n/a
24	chr2:64494859-64494909	HepG2	liver:	n/a
25	chr2:64485830-64485880	HPAEpiC	pulmonary alveolar:	n/a
26	chr2:64372160-64372210	LNCaP	prostate:	n/a
27	chr2:64371643-64371693	HMEC	breast:	n/a
28	chr2:64356545-64356595	HIPEpiC	eye:	n/a
29	chr2:64485830-64485880	BJ	skin:	n/a
30	chr2:64371806-64371856	HMEC	breast:	n/a
31	chr2:64472941-64472991	NB4	blood:	n/a
32	chr2:64431245-64431295	U87	brain:	n/a
33	chr2:64501134-64501184	HCT-116	colon:	n/a
34	chr2:64477485-64477535	ProgFib	skin:	n/a
35	chr2:64455397-64455447	IMR90	lung:	fetal
36	chr2:64477485-64477535	GM06990	blood:	n/a
37	chr2:64371530-64371580	HCT-116	colon:	n/a
38	chr2:64506975-64507025	HNPCEpiC	eye:	n/a
39	chr2:64455551-64455601	Jurkat	blood:	n/a
40	chr2:64455515-64455565	AG04450	lung:	fetal
41	chr2:64371810-64371860	HRCEpiC	kidney:	n/a
42	chr2:64477485-64477535	HAEpiC	amniotic membrane:	n/a
43	chr2:64356545-64356595	AG04449	skin:	fetal
44	chr2:64371511-64371561	HRPEpiC	eye:	n/a
45	chr2:64371766-64371816	SK-N-SH	brain:	n/a
46	chr2:64375257-64375307	AG04450	lung:	fetal
47	chr2:64494859-64494909	RPTEC	kidney:	n/a
48	chr2:64501134-64501184	HAEpiC	amniotic membrane:	n/a
49	chr2:64356545-64356595	PANC-1	pancreas:	n/a
50	chr2:64371643-64371693	HEK293	kidney:	embryo

(count:115 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr2:64432532..64434467-chr2:64436977..64439026,2	K562	blood:
2	chr2:64360272..64363388-chr2:64364975..64368007,3	MCF-7	breast:
3	chr2:64466015..64469336-chr2:64470306..64473031,3	K562	blood:
4	chr2:64444742..64447854-chr2:64452172..64455370,3	K562	blood:
5	chr2:64342710..64344568-chr2:64368556..64370668,2	K562	blood:
6	chr2:64355620..64357775-chr2:64369401..64371432,2	K562	blood:
7	chr2:64507097..64508875-chr2:64512473..64514723,2	K562	blood:
8	chr2:64465774..64467528-chr2:64473561..64475230,2	MCF-7	breast:
9	chr2:64364848..64367647-chr2:64381167..64383124,2	K562	blood:
10	chr2:64352794..64354467-chr2:64356091..64358987,2	K562	blood:
11	chr2:64364848..64367647-chr2:64381167..64383124,2	K562	blood:
12	chr2:64509519..64512116-chr2:64514546..64516587,2	K562	blood:
13	chr2:64391692..64394480-chr2:64396237..64398356,2	K562	blood:
14	chr2:64371127..64371648-chr3:169482551..169483132,2	Hela-S3	cervix:
15	chr2:64391692..64394480-chr2:64396237..64398356,2	K562	blood:
16	chr2:64495609..64497213-chr2:64499449..64501567,2	K562	blood:
17	chr2:64368580..64371469-chr2:64483320..64485909,2	K562	blood:
18	chr2:64376170..64379068-chr2:64379402..64380977,2	K562	blood:
19	chr2:64453821..64455885-chr2:64458593..64460540,2	K562	blood:
20	chr2:64490659..64493693-chr2:64499650..64502494,3	MCF-7	breast:
21	chr2:64352794..64354467-chr2:64356091..64358987,2	K562	blood:
22	chr2:64488028..64492838-chr2:64495770..64499229,4	K562	blood:
23	chr2:64368361..64371459-chr2:64452988..64456076,3	K562	blood:
24	chr19:12902085..12902808-chr2:64371127..64371837,2	NB4	blood:
25	chr2:64431125..64433140-chr2:64460196..64462999,2	K562	blood:
26	chr2:64494301..64495818-chr2:64498952..64501759,2	MCF-7	breast:
27	chr2:64419508..64423529-chr2:64424366..64426976,3	K562	blood:
28	chr2:64383958..64386804-chr2:64389964..64393061,3	MCF-7	breast:
29	chr2:64383958..64386804-chr2:64389964..64393061,3	MCF-7	breast:
30	chr2:64456564..64459506-chr2:64461164..64463105,2	K562	blood:
31	chr2:64291575..64294023-chr2:64351680..64354001,2	MCF-7	breast:
32	chr2:64371841..64374701-chr2:64382172..64383968,2	MCF-7	breast:
33	chr2:64357649..64359489-chr2:64370869..64372689,2	K562	blood:
34	chr2:64404382..64407002-chr2:64408680..64411015,2	K562	blood:
35	chr2:64468295..64471597-chr2:64473646..64477829,4	K562	blood:
36	chr2:64379005..64381550-chr2:64383092..64384987,2	K562	blood:
37	chr2:64495609..64497213-chr2:64499449..64501567,2	K562	blood:
38	chr2:64440052..64441742-chr2:64449595..64451315,2	K562	blood:
39	chr2:64397314..64401129-chr2:64404322..64406601,3	MCF-7	breast:
40	chr2:64443138..64444766-chr2:64466120..64468128,2	K562	blood:
41	chr2:64372416..64375207-chr2:64375466..64377238,2	K562	blood:
42	chr2:64438408..64440194-chr2:64451876..64454723,2	K562	blood:
43	chr2:64361298..64364735-chr2:64368847..64372376,4	MCF-7	breast:
44	chr2:64369156..64371236-chr2:64440535..64442538,2	K562	blood:
45	chr2:64370065..64372798-chr2:64488901..64490869,2	MCF-7	breast:
46	chr2:64389966..64392786-chr2:64393328..64395942,2	MCF-7	breast:
47	chr2:64354212..64356714-chr2:64359310..64361277,2	MCF-7	breast:
48	chr2:64401304..64403227-chr2:64446509..64448763,2	MCF-7	breast:
49	chr2:64397314..64401129-chr2:64404322..64406601,3	MCF-7	breast:
50	chr2:64452341..64455321-chr2:64458593..64460845,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PELI1-2	chr2:64411124-64411305	NONHSAT071092
2	lnc-LGALSL-2	chr2:64456631-64456739	ENSG00000225889.3
3	lnc-LGALSL-2	chr2:64453581-64453626	ENSG00000225889.3
4	lnc-LGALSL-2	chr2:64455587-64455656	ENSG00000225889
5	lnc-VPS54-4	chr2:64371215-64371530	NONHSAT071090
6	lnc-LGALSL-2	chr2:64453581-64453626	ENSG00000225889
7	lnc-LGALSL-2	chr2:64455602-64455656	NONHSAT071103
8	lnc-LGALSL-2	chr2:64456631-64456739	ENSG00000225889
9	lnc-PELI1-8	chr2:64458202-64458974	NONHSAT071095
10	lnc-PELI1-2	chr2:64430127-64430222	XLOC_002123
11	lnc-PELI1-2	chr2:64416151-64416266	XLOC_002123
12	lnc-PELI1-8	chr2:64478253-64478681	NONHSAT071095
13	lnc-PELI1-2	chr2:64416151-64416266	NR_033837
14	lnc-PELI1-2	chr2:64430127-64430222	NONHSAT071093
15	lnc-PELI1-2	chr2:64430424-64432619	XLOC_002123
16	lnc-PELI1-3	chr2:64503035-64503717	XLOC_002124
17	lnc-LGALSL-2	chr2:64428882-64429028	ENSG00000225889.3
18	lnc-LGALSL-2	chr2:64441601-64441668	ENSG00000225889
19	lnc-LGALSL-2	chr2:64434106-64434179	ENSG00000225889.3
20	lnc-PELI1-2	chr2:64419490-64419592	XLOC_002123
21	lnc-PELI1-8	chr2:64478782-64479117	NONHSAT071095
22	lnc-PELI1-8	chr2:64456631-64456774	NONHSAT071095
23	lnc-LGALSL-2	chr2:64455337-64455710	NONHSAT071099
24	lnc-PELI1-7	chr2:64435632-64435850	NONHSAT071097
25	lnc-LGALSL-2	chr2:64434106-64434179	ENSG00000225889
26	lnc-PELI1-8	chr2:64479554-64479991	NONHSAT071095
27	lnc-PELI1-6	chr2:64418709-64418995	ucscGeneNc_uc002scw_2
28	lnc-LGALSL-2	chr2:64428882-64429028	ENSG00000225889
29	lnc-LGALSL-2	chr2:64478253-64478489	ENSG00000225889
30	lnc-PELI1-2	chr2:64428362-64428492	NONHSAT071093
31	lnc-LGALSL-2	chr2:64456631-64456774	ENSG00000225889
32	lnc-PELI1-2	chr2:64428362-64428492	NR_033837
33	lnc-PELI1-2	chr2:64430424-64432619	NR_033837
34	lnc-PELI1-2	chr2:64430424-64432619	NONHSAT071093
35	lnc-PELI1-2	chr2:64419490-64419592	NR_033837
36	lnc-PELI1-6	chr2:64422173-64422286	ucscGeneNc_uc002scw_2
37	lnc-LGALSL-2	chr2:64478935-64479072	ENSG00000225889
38	lnc-LGALSL-2	chr2:64370373-64370480	ENSG00000225889
39	lnc-LGALSL-2	chr2:64456631-64456781	NONHSAT071099
40	lnc-LGALSL-2	chr2:64456631-64456774	ENSG00000225889
41	lnc-PELI1-2	chr2:64430127-64430222	NR_033837
42	lnc-LGALSL-2	chr2:64479554-64479960	NONHSAT071103
43	lnc-PELI1-8	chr2:64433592-64433692	NONHSAT071095
44	lnc-PELI1-8	chr2:64436544-64436839	NONHSAT071095
45	lnc-LGALSL-2	chr2:64456305-64456422	ENSG00000225889
46	lnc-PELI1-2	chr2:64412043-64412049	NONHSAT071093
47	lnc-LGALSL-2	chr2:64456631-64456774	ENSG00000225889
48	lnc-PELI1-2	chr2:64412212-64412876	NONHSAT071093
49	lnc-LGALSL-2	chr2:64478253-64478471	ENSG00000225889
50	lnc-LGALSL-1	chr2:64501031-64501181	XLOC_001496

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
ENSG00000171223	chromatin interactions
ENSG00000143952	chromatin interactions
ENSG00000270141	chromatin interactions
ENSG00000230923	chromatin interactions
ENSG00000225889	chromatin interactions
ENSG00000197329	chromatin interactions
VDAC2	miRNA target sites
UBE2D2	miRNA target sites
LATS2	miRNA target sites
PLK2	miRNA target sites
PRDM1	miRNA target sites
INSIG1	miRNA target sites
CDK9	miRNA target sites
LBR	miRNA target sites
ITGA6	miRNA target sites
SIRT1	miRNA target sites
FUBP3	miRNA target sites
CEBPZ	miRNA target sites
RANBP2	miRNA target sites
MAGEA12	miRNA target sites
IPPK	miRNA target sites
KIAA1549	miRNA target sites
SEC23A	miRNA target sites

Extended variants
information (count: 6337 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:6337 , 50 per page) page: 1 2 3 4 5 6 7 ... 127

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34470732	chr2:64342348-64342349	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs79758981	chr2:64342378-64342379	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs77123175	chr2:64342429-64342430	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs11673747	chr2:64342439-64342440	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs7349403	chr2:64342469-64342470	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs577910398	chr2:64342503-64342504	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs545622056	chr2:64342552-64342553	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs185805247	chr2:64342567-64342568	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs149348678	chr2:64342581-64342582	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs11679748	chr2:64342626-64342627	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs561348817	chr2:64342664-64342665	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs79122885	chr2:64342720-64342721	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs546995908	chr2:64342729-64342730	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs191333885	chr2:64342753-64342754	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs538925780	chr2:64342770-64342771	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs374515746	chr2:64342830-64342831	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs550763981	chr2:64342867-64342868	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs4671081	chr2:64342955-64342956	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs35786813	chr2:64342972-64342973	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs78781740	chr2:64343007-64343008	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs554400119	chr2:64343065-64343066	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs144705908	chr2:64343099-64343100	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs183254877	chr2:64343100-64343101	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs577928405	chr2:64343113-64343114	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs564223828	chr2:64343168-64343169	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs4671082	chr2:64343232-64343233	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs577924848	chr2:64343235-64343236	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs545330093	chr2:64343272-64343273	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs557552072	chr2:64343276-64343277	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs575714809	chr2:64343278-64343279	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs35682389	chr2:64343281-64343282	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs543191145	chr2:64343282-64343283	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs139947204	chr2:64343348-64343349	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs528594563	chr2:64343366-64343367	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs540671860	chr2:64343380-64343381	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs565242054	chr2:64343404-64343405	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs187597352	chr2:64343471-64343472	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs190865355	chr2:64343517-64343518	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs569051897	chr2:64343548-64343549	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs116497805	chr2:64343574-64343575	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs183451755	chr2:64343669-64343670	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs76360577	chr2:64343680-64343681	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs115210031	chr2:64343825-64343826	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs558132179	chr2:64343831-64343832	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs371182170	chr2:64343869-64343870	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs187792931	chr2:64343875-64343876	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs146715878	chr2:64343903-64343904	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs139329739	chr2:64343915-64343916	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs575873904	chr2:64343921-64343922	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs192459859	chr2:64343966-64343967	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 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:5214 , 50 per page) page: 1 2 3 4 5 6 7 ... 105

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64323600-64364400	Weak transcription	Fetal Brain Male	brain
2	chr2:64324400-64344800	Weak transcription	HSMMtube	muscle
3	chr2:64329000-64342800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:64333600-64343200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr2:64334000-64349200	Weak transcription	Fetal Kidney	kidney
6	chr2:64334200-64343200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr2:64334400-64350200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:64334800-64346600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:64335000-64343200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:64335000-64365200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:64335200-64348000	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:64335200-64348200	Weak transcription	Placenta	Placenta
13	chr2:64335600-64343400	Weak transcription	Brain Germinal Matrix	brain
14	chr2:64336000-64344400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr2:64336400-64344400	Enhancers	Primary T cells from cord blood	blood
16	chr2:64336400-64351400	Weak transcription	Fetal Stomach	stomach
17	chr2:64336400-64353400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:64336600-64343400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr2:64338200-64344000	Enhancers	Colon Smooth Muscle	Colon
20	chr2:64338200-64344200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr2:64338600-64350800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:64338800-64344600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:64339200-64344200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:64339400-64345000	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr2:64339800-64342800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr2:64340000-64343400	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr2:64340400-64343800	Enhancers	Liver	Liver
28	chr2:64340400-64344200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr2:64340400-64344200	Enhancers	Brain Anterior Caudate	brain
30	chr2:64340400-64344400	Enhancers	Stomach Mucosa	stomach
31	chr2:64340400-64370200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:64340600-64344000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:64340600-64344400	Enhancers	NHDF-Ad	bronchial
34	chr2:64340800-64344000	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr2:64340800-64344200	Enhancers	Fetal Lung	lung
36	chr2:64341000-64342400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr2:64341000-64342400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr2:64341000-64344000	Enhancers	HepG2	liver
39	chr2:64341000-64344400	Enhancers	Adipose Nuclei	Adipose
40	chr2:64341000-64344400	Enhancers	Fetal Intestine Small	intestine
41	chr2:64341000-64344400	Enhancers	HMEC	breast
42	chr2:64341000-64344600	Enhancers	Fetal Intestine Large	intestine
43	chr2:64341200-64343200	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr2:64341200-64344000	Enhancers	Brain Angular Gyrus	brain
45	chr2:64341200-64344200	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr2:64341200-64344200	Enhancers	Brain Hippocampus Middle	brain
47	chr2:64341200-64344400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:64341200-64345200	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr2:64341400-64342400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr2:64341400-64342600	Enhancers	Sigmoid Colon	Sigmoid Colon

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