Variant report

Variant	esv2756924
Chromosome Location	chr2:64349202-64521290
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2825)
CpG islands
(count:1956)
Chromatin interactive
region (count:111)
LncRNA
region (count:72)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2825 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:64371361-64371818	HepG2	liver:	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	chr2:64356051-64356363	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:64360945-64361218	K562	blood:	n/a	n/a
6	ARID3A	chr2:64462070-64462192	HepG2	liver:	n/a	n/a
7	ARID3A	chr2:64487836-64488166	K562	blood:	n/a	n/a
8	ARID3A	chr2:64444467-64444714	K562	blood:	n/a	n/a
9	ARID3A	chr2:64439610-64439846	K562	blood:	n/a	n/a
10	ATF1	chr2:64439510-64439772	K562	blood:	n/a	n/a
11	ATF1	chr2:64470790-64470958	K562	blood:	n/a	n/a
12	ATF1	chr2:64440044-64440506	K562	blood:	n/a	n/a
13	ATF1	chr2:64371444-64371922	K562	blood:	n/a	n/a
14	ATF1	chr2:64487940-64488263	K562	blood:	n/a	n/a
15	ATF2	chr2:64431077-64431903	GM12878	blood:	n/a	n/a
16	ATF2	chr2:64503402-64504685	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF2	chr2:64371167-64371925	GM12878	blood:	n/a	n/a
18	ATF2	chr2:64406663-64407392	GM12878	blood:	n/a	n/a
19	ATF2	chr2:64503466-64504760	H1-hESC	embryonic stem cell:	n/a	n/a
20	ATF2	chr2:64478584-64479036	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF2	chr2:64494849-64495276	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF2	chr2:64487867-64488233	GM12878	blood:	n/a	n/a
23	ATF2	chr2:64439905-64440534	GM12878	blood:	n/a	n/a
24	ATF2	chr2:64419188-64419958	GM12878	blood:	n/a	n/a
25	ATF2	chr2:64440817-64442362	GM12878	blood:	n/a	n/a
26	ATF2	chr2:64439935-64442315	GM12878	blood:	n/a	n/a
27	ATF2	chr2:64510058-64511256	GM12878	blood:	n/a	n/a
28	ATF2	chr2:64419195-64419599	GM12878	blood:	n/a	n/a
29	ATF2	chr2:64431113-64432008	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	chr2:64369889-64370817	GM12878	blood:	n/a	n/a
33	ATF2	chr2:64434647-64435060	GM12878	blood:	n/a	n/a
34	ATF2	chr2:64487909-64488356	GM12878	blood:	n/a	n/a
35	ATF2	chr2:64478246-64479168	H1-hESC	embryonic stem cell:	n/a	n/a
36	ATF3	chr2:64479777-64480075	K562	blood:	n/a	n/a
37	BACH1	chr2:64404670-64404815	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	chr2:64370926-64370927	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	chr2:64416374-64416484	H1-hESC	embryonic stem cell:	n/a	n/a
42	BACH1	chr2:64485758-64485792	H1-hESC	embryonic stem cell:	n/a	n/a
43	BACH1	chr2:64504674-64504864	K562	blood:	n/a	n/a
44	BACH1	chr2:64380133-64380142	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	chr2:64504316-64504948	H1-hESC	embryonic stem cell:	n/a	n/a
47	BATF	chr2:64439942-64440462	GM12878	blood:	n/a	n/a
48	BATF	chr2:64441380-64442276	GM12878	blood:	n/a	n/a
49	BATF	chr2:64356249-64356515	GM12878	blood:	n/a	n/a
50	BATF	chr2:64431300-64431692	GM12878	blood:	n/a	n/a

(count:1956 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:64485830-64485880	HCPEpiC	choroid plexus:	n/a
2	chr2:64472941-64472991	AG04450	lung:	fetal
3	chr2:64371810-64371860	IMR90	lung:	fetal
4	chr2:64455515-64455565	U87	brain:	n/a
5	chr2:64485830-64485880	HCPEpiC	choroid plexus:	n/a
6	chr2:64472941-64472991	AG04450	lung:	fetal
7	chr2:64371810-64371860	IMR90	lung:	fetal
8	chr2:64455515-64455565	U87	brain:	n/a
9	chr2:64506975-64507025	NT2-D1	testis:	n/a
10	chr2:64375257-64375307	HCT-116	colon:	n/a
11	chr2:64506975-64507025	BE2_C	brain:	n/a
12	chr2:64371175-64371225	T-47D	breast:	n/a
13	chr2:64371766-64371816	HEEpiC	esophagus:	n/a
14	chr2:64373042-64373092	NHBE	bronchial:	n/a
15	chr2:64399578-64399628	MCF-7	breast:	n/a
16	chr2:64372160-64372210	NHDF-neo	bronchial:	n/a
17	chr2:64485830-64485880	AG09319	gingival:	n/a
18	chr2:64371646-64371696	AG04449	skin:	fetal
19	chr2:64455551-64455601	PANC-1	pancreas:	n/a
20	chr2:64455551-64455601	SKMC	muscle:	n/a
21	chr2:64506975-64507025	LNCaP	prostate:	n/a
22	chr2:64501134-64501184	HCT-116	colon:	n/a
23	chr2:64373042-64373092	ovcar-3	ovarian:	n/a
24	chr2:64371651-64371701	HEEpiC	esophagus:	n/a
25	chr2:64440295-64440345	PFSK-1	brain:	n/a
26	chr2:64371202-64371252	AG10803	skin:	n/a
27	chr2:64373042-64373092	MCF10A-Er-Src	breast:	n/a
28	chr2:64372160-64372210	HNPCEpiC	eye:	n/a
29	chr2:64371511-64371561	PANC-1	pancreas:	n/a
30	chr2:64431245-64431295	HUVEC	blood vessel:	n/a
31	chr2:64373042-64373092	HRCEpiC	kidney:	n/a
32	chr2:64371202-64371252	SK-N-SH	brain:	n/a
33	chr2:64485830-64485880	Jurkat	blood:	n/a
34	chr2:64455397-64455447	HL-60	blood:	n/a
35	chr2:64431245-64431295	PFSK-1	brain:	n/a
36	chr2:64371643-64371693	HRCEpiC	kidney:	n/a
37	chr2:64371646-64371696	HCPEpiC	choroid plexus:	n/a
38	chr2:64371680-64371730	NHDF-neo	bronchial:	n/a
39	chr2:64455551-64455601	HIPEpiC	eye:	n/a
40	chr2:64447091-64447141	GM19239	blood:	n/a
41	chr2:64371511-64371561	Hela-S3	cervix:	n/a
42	chr2:64501134-64501184	SK-N-SH_RA	brain:	n/a
43	chr2:64455515-64455565	AG09319	gingival:	n/a
44	chr2:64372160-64372210	PFSK-1	brain:	n/a
45	chr2:64373042-64373092	HIPEpiC	eye:	n/a
46	chr2:64371651-64371701	SKMC	muscle:	n/a
47	chr2:64371766-64371816	RPTEC	kidney:	n/a
48	chr2:64455397-64455447	Hela-S3	cervix:	n/a
49	chr2:64371511-64371561	HL-60	blood:	n/a
50	chr2:64514663-64514713	MCF10A-Er-Src	breast:	n/a

(count:111 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr2:64372416..64375207-chr2:64375466..64377238,2	K562	blood:
2	chr2:64364848..64367647-chr2:64381167..64383124,2	K562	blood:
3	chr2:64437286..64442036-chr2:64442990..64448045,5	K562	blood:
4	chr2:64437286..64442036-chr2:64442990..64448045,5	K562	blood:
5	chr2:64502984..64504855-chr2:64508634..64511182,2	K562	blood:
6	chr2:64462411..64463958-chr2:64471298..64472836,2	MCF-7	breast:
7	chr2:64509519..64512116-chr2:64514546..64516587,2	K562	blood:
8	chr2:64354212..64356714-chr2:64359310..64361277,2	MCF-7	breast:
9	chr2:64471845..64474737-chr2:64476534..64479111,2	MCF-7	breast:
10	chr2:64376170..64379068-chr2:64379402..64380977,2	K562	blood:
11	chr2:64356583..64359490-chr2:64359820..64361571,2	K562	blood:
12	chr2:64468295..64471597-chr2:64473646..64477829,4	K562	blood:
13	chr2:64364848..64367647-chr2:64381167..64383124,2	K562	blood:
14	chr2:64365394..64367023-chr2:64370250..64372565,2	MCF-7	breast:
15	chr2:64495609..64497213-chr2:64499449..64501567,2	K562	blood:
16	chr2:64488099..64490246-chr2:64490970..64494395,3	K562	blood:
17	chr2:64488028..64492838-chr2:64495770..64499229,4	K562	blood:
18	chr2:64489082..64492227-chr2:64492884..64497005,5	MCF-7	breast:
19	chr2:64391692..64394480-chr2:64396237..64398356,2	K562	blood:
20	chr2:64347119..64349291-chr2:64370114..64372377,2	MCF-7	breast:
21	chr2:64488028..64492838-chr2:64495770..64499229,4	K562	blood:
22	chr2:64397314..64401129-chr2:64404322..64406601,3	MCF-7	breast:
23	chr2:64379005..64381550-chr2:64383092..64384987,2	K562	blood:
24	chr2:64376170..64379068-chr2:64379402..64380977,2	K562	blood:
25	chr2:64352794..64354467-chr2:64356091..64358987,2	K562	blood:
26	chr2:64280836..64282865-chr2:64492384..64494313,2	MCF-7	breast:
27	chr2:64494301..64495818-chr2:64498952..64501759,2	MCF-7	breast:
28	chr2:64438408..64440194-chr2:64451876..64454723,2	K562	blood:
29	chr2:64488099..64490246-chr2:64490970..64494395,3	K562	blood:
30	chr2:64501057..64502720-chr2:64535890..64537739,2	MCF-7	breast:
31	chr2:64466015..64469336-chr2:64470306..64473031,3	K562	blood:
32	chr2:64370293..64373399-chr2:64381900..64383702,3	K562	blood:
33	chr19:12902085..12902808-chr2:64371127..64371837,2	NB4	blood:
34	chr2:64369156..64371236-chr2:64440535..64442538,2	K562	blood:
35	chr2:64452341..64455321-chr2:64458593..64460845,2	K562	blood:
36	chr2:64453821..64455885-chr2:64458593..64460540,2	K562	blood:
37	chr2:64356583..64359490-chr2:64359820..64361571,2	K562	blood:
38	chr2:64464241..64466664-chr2:64467503..64470647,3	MCF-7	breast:
39	chr2:64391692..64394480-chr2:64396237..64398356,2	K562	blood:
40	chr2:64438408..64440194-chr2:64451876..64454723,2	K562	blood:
41	chr2:64379660..64382611-chr2:64384474..64386718,2	MCF-7	breast:
42	chr2:64379660..64382611-chr2:64384474..64386718,2	MCF-7	breast:
43	chr2:64368580..64371469-chr2:64483320..64485909,2	K562	blood:
44	chr2:64444742..64447854-chr2:64452172..64455370,3	K562	blood:
45	chr2:64383958..64386804-chr2:64389964..64393061,3	MCF-7	breast:
46	chr2:64371841..64374701-chr2:64382172..64383968,2	MCF-7	breast:
47	chr2:64466015..64469336-chr2:64470306..64473031,3	K562	blood:
48	chr2:64462411..64463958-chr2:64471298..64472836,2	MCF-7	breast:
49	chr2:64465774..64467528-chr2:64473561..64475230,2	MCF-7	breast:
50	chr2:64419508..64423529-chr2:64424366..64426976,3	K562	blood:

(count:72 , 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	chr2:64418709-64418995	ucscGeneNc_uc002scw_2
3	lnc-LGALSL-1	chr2:64518279-64518697	XLOC_001496
4	lnc-PELI1-8	chr2:64433592-64433692	NONHSAT071095
5	lnc-LGALSL-2	chr2:64455557-64455656	ENSG00000225889
6	lnc-PELI1-8	chr2:64456631-64456774	NONHSAT071095
7	lnc-PELI1-2	chr2:64430424-64432619	NONHSAT071093
8	lnc-PELI1-8	chr2:64478782-64479117	NONHSAT071095
9	lnc-LGALSL-2	chr2:64455587-64455656	ENSG00000225889
10	lnc-PELI1-2	chr2:64428362-64428492	NONHSAT071093
11	lnc-LGALSL-1	chr2:64501019-64501181	XLOC_001496
12	lnc-PELI1-2	chr2:64412663-64412769	NONHSAT071092
13	lnc-LGALSL-2	chr2:64456631-64456774	ENSG00000225889
14	lnc-LGALSL-2	chr2:64478935-64479072	ENSG00000225889
15	lnc-LGALSL-1	chr2:64501031-64501181	XLOC_001496
16	lnc-PELI1-2	chr2:64416151-64416266	XLOC_002123
17	lnc-PELI1-8	chr2:64479554-64479991	NONHSAT071095
18	lnc-LGALSL-2	chr2:64370373-64370480	ENSG00000225889.3
19	lnc-PELI1-2	chr2:64419490-64419592	NONHSAT071093
20	lnc-LGALSL-2	chr2:64455337-64455710	NONHSAT071099
21	lnc-PELI1-3	chr2:64503035-64503717	XLOC_002124
22	lnc-VPS54-4	chr2:64371215-64371530	NONHSAT071090
23	lnc-LGALSL-2	chr2:64434106-64434179	ENSG00000225889.3
24	lnc-PELI1-8	chr2:64458202-64458974	NONHSAT071095
25	lnc-LGALSL-2	chr2:64478253-64478471	ENSG00000225889
26	lnc-PELI1-2	chr2:64419490-64419592	NR_033837
27	lnc-PELI1-2	chr2:64416151-64416266	NONHSAT071093
28	lnc-LGALSL-2	chr2:64434109-64434179	ENSG00000225889
29	lnc-LGALSL-2	chr2:64441601-64441668	ENSG00000225889
30	lnc-LGALSL-2	chr2:64456631-64456774	ENSG00000225889
31	lnc-PELI1-2	chr2:64428362-64428492	NR_033837
32	lnc-LGALSL-2	chr2:64478253-64478489	ENSG00000225889
33	lnc-LGALSL-2	chr2:64475458-64475672	ENSG00000225889
34	lnc-LGALSL-2	chr2:64434106-64434179	ENSG00000225889
35	lnc-LGALSL-2	chr2:64428882-64429028	ENSG00000225889.3
36	lnc-LGALSL-2	chr2:64456631-64456739	ENSG00000225889.3
37	lnc-LGALSL-2	chr2:64441601-64441668	ENSG00000225889.3
38	lnc-PELI1-2	chr2:64412212-64412876	NONHSAT071093
39	lnc-LGALSL-2	chr2:64453581-64453626	ENSG00000225889.3
40	lnc-LGALSL-2	chr2:64456305-64456422	ENSG00000225889
41	lnc-LGALSL-2	chr2:64456631-64456781	NONHSAT071099
42	lnc-LGALSL-2	chr2:64428882-64429028	ENSG00000225889
43	lnc-PELI1-6	chr2:64422173-64422285	NONHSAT071094
44	lnc-LGALSL-7	chr2:64481866-64482002	NONHSAT071104
45	lnc-VPS54-4	chr2:64371215-64371554	NONHSAT071089
46	lnc-LGALSL-2	chr2:64455602-64455656	NONHSAT071103
47	lnc-PELI1-2	chr2:64419490-64419592	XLOC_002123
48	lnc-LGALSL-7	chr2:64483043-64483311	NONHSAT071104
49	lnc-PELI1-6	chr2:64422173-64422286	ucscGeneNc_uc002scw_2
50	lnc-PELI1-2	chr2:64412215-64412876	XLOC_002123

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

Extended variants
information (count: 6349 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:6349 , 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	rs7604693	chr2:64349202-64349203	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs138899412	chr2:64349302-64349303	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs371832575	chr2:64349311-64349312	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs545135362	chr2:64349391-64349392	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs563785824	chr2:64349404-64349405	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs530838332	chr2:64349405-64349406	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs549394109	chr2:64349424-64349425	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs567606089	chr2:64349477-64349478	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs528354115	chr2:64349491-64349492	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs143649149	chr2:64349501-64349502	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs374906082	chr2:64349510-64349511	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs181878108	chr2:64349637-64349638	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568424036	chr2:64349746-64349747	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554246432	chr2:64349767-64349768	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185517791	chr2:64349772-64349773	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568913819	chr2:64349780-64349781	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77648713	chr2:64349844-64349845	Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372262398	chr2:64349846-64349847	Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554137083	chr2:64349872-64349873	Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574007578	chr2:64349885-64349886	Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148946779	chr2:64349911-64349912	Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553543973	chr2:64349932-64349933	Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375193082	chr2:64349941-64349942	Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368212972	chr2:64349956-64349957	Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539169639	chr2:64350003-64350004	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145717398	chr2:64350075-64350076	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10185776	chr2:64350133-64350134	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs376758281	chr2:64350164-64350165	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138349962	chr2:64350201-64350202	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142752618	chr2:64350218-64350219	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561219941	chr2:64350224-64350225	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138080119	chr2:64350288-64350289	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565770533	chr2:64350363-64350364	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs141790439	chr2:64350371-64350372	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190042649	chr2:64350410-64350411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10186108	chr2:64350414-64350415	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs150553200	chr2:64350416-64350417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181704027	chr2:64350421-64350422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535905737	chr2:64350431-64350432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554149400	chr2:64350444-64350445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543609130	chr2:64350477-64350478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544427733	chr2:64350486-64350487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs6761204	chr2:64350498-64350499	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs533526879	chr2:64350592-64350593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553416587	chr2:64350720-64350721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs578193555	chr2:64350847-64350848	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs61504639	chr2:64350863-64350864	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs186674538	chr2:64350871-64350872	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs529511318	chr2:64350939-64350940	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112067846	chr2:64350967-64350968	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	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:4981 , 50 per page) page: 1 2 3 4 5 6 7 ... 100

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64323600-64364400	Weak transcription	Fetal Brain Male	brain
2	chr2:64334400-64350200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr2:64335000-64365200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:64336400-64351400	Weak transcription	Fetal Stomach	stomach
5	chr2:64336400-64353400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:64338600-64350800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:64340400-64370200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:64342000-64352800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:64342000-64365200	Weak transcription	Left Ventricle	heart
10	chr2:64342200-64358600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:64342400-64353400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr2:64342800-64360600	Weak transcription	K562	blood
13	chr2:64342800-64362200	Weak transcription	Thymus	Thymus
14	chr2:64343400-64351200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:64343800-64361800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr2:64344000-64361000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr2:64344200-64356000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:64344200-64356400	Weak transcription	Fetal Lung	lung
19	chr2:64344400-64351800	Weak transcription	Psoas Muscle	Psoas
20	chr2:64344400-64355600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr2:64344400-64360600	Weak transcription	HUVEC	blood vessel
22	chr2:64344400-64361000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:64345000-64355400	Enhancers	Fetal Intestine Large	intestine
24	chr2:64346600-64351400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:64346800-64349600	Weak transcription	Brain Anterior Caudate	brain
26	chr2:64346800-64353800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:64346800-64353800	Weak transcription	Brain Angular Gyrus	brain
28	chr2:64346800-64356000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr2:64347000-64350800	Weak transcription	HepG2	liver
30	chr2:64347000-64351800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr2:64347000-64352400	Weak transcription	Brain Hippocampus Middle	brain
32	chr2:64347000-64354400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr2:64347000-64355000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr2:64347000-64355000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:64347400-64355000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr2:64347400-64368800	Weak transcription	Spleen	Spleen
37	chr2:64347600-64354200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr2:64347800-64349400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
39	chr2:64347800-64349600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr2:64347800-64349800	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr2:64347800-64358000	Weak transcription	Fetal Heart	heart
42	chr2:64348200-64349600	Weak transcription	Primary T cells from cord blood	blood
43	chr2:64348200-64350400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr2:64348400-64349600	Weak transcription	Colon Smooth Muscle	Colon
45	chr2:64348400-64349600	Strong transcription	GM12878-XiMat	blood
46	chr2:64348400-64349800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr2:64348400-64350000	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr2:64348400-64350800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr2:64348400-64351800	Weak transcription	Small Intestine	intestine
50	chr2:64348400-64354800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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