Variant report

Variant	nsv1000390
Chromosome Location	chr2:64343861-64512286
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2824)
CpG islands
(count:1892)
Chromatin interactive
region (count:111)
LncRNA
region (count:71)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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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	chr2:64487836-64488166	K562	blood:	n/a	n/a
4	ARID3A	chr2:64356051-64356363	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:64439610-64439846	K562	blood:	n/a	n/a
6	ARID3A	chr2:64385678-64385988	HepG2	liver:	n/a	n/a
7	ARID3A	chr2:64462070-64462192	HepG2	liver:	n/a	n/a
8	ARID3A	chr2:64360945-64361218	K562	blood:	n/a	n/a
9	ARID3A	chr2:64444467-64444714	K562	blood:	n/a	n/a
10	ATF1	chr2:64487940-64488263	K562	blood:	n/a	n/a
11	ATF1	chr2:64371444-64371922	K562	blood:	n/a	n/a
12	ATF1	chr2:64440044-64440506	K562	blood:	n/a	n/a
13	ATF1	chr2:64439510-64439772	K562	blood:	n/a	n/a
14	ATF1	chr2:64470790-64470958	K562	blood:	n/a	n/a
15	ATF2	chr2:64371167-64371925	GM12878	blood:	n/a	n/a
16	ATF2	chr2:64478584-64479036	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF2	chr2:64439935-64442315	GM12878	blood:	n/a	n/a
18	ATF2	chr2:64440817-64442362	GM12878	blood:	n/a	n/a
19	ATF2	chr2:64439905-64440534	GM12878	blood:	n/a	n/a
20	ATF2	chr2:64510058-64511256	GM12878	blood:	n/a	n/a
21	ATF2	chr2:64503466-64504760	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF2	chr2:64478246-64479168	H1-hESC	embryonic stem cell:	n/a	n/a
23	ATF2	chr2:64369954-64370701	GM12878	blood:	n/a	n/a
24	ATF2	chr2:64494849-64495276	H1-hESC	embryonic stem cell:	n/a	n/a
25	ATF2	chr2:64419188-64419958	GM12878	blood:	n/a	n/a
26	ATF2	chr2:64503402-64504685	H1-hESC	embryonic stem cell:	n/a	n/a
27	ATF2	chr2:64487867-64488233	GM12878	blood:	n/a	n/a
28	ATF2	chr2:64419195-64419599	GM12878	blood:	n/a	n/a
29	ATF2	chr2:64431077-64431903	GM12878	blood:	n/a	n/a
30	ATF2	chr2:64434647-64435060	GM12878	blood:	n/a	n/a
31	ATF2	chr2:64406663-64407392	GM12878	blood:	n/a	n/a
32	ATF2	chr2:64369889-64370817	GM12878	blood:	n/a	n/a
33	ATF2	chr2:64406848-64407443	GM12878	blood:	n/a	n/a
34	ATF2	chr2:64431113-64432008	GM12878	blood:	n/a	n/a
35	ATF2	chr2:64487909-64488356	GM12878	blood:	n/a	n/a
36	ATF3	chr2:64479777-64480075	K562	blood:	n/a	n/a
37	BACH1	chr2:64440159-64440215	H1-hESC	embryonic stem cell:	n/a	n/a
38	BACH1	chr2:64416374-64416484	H1-hESC	embryonic stem cell:	n/a	n/a
39	BACH1	chr2:64504316-64504948	H1-hESC	embryonic stem cell:	n/a	n/a
40	BACH1	chr2:64485758-64485792	H1-hESC	embryonic stem cell:	n/a	n/a
41	BACH1	chr2:64504674-64504864	K562	blood:	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	BACH1	chr2:64370926-64370927	H1-hESC	embryonic stem cell:	n/a	n/a
45	BACH1	chr2:64479899-64479984	H1-hESC	embryonic stem cell:	n/a	n/a
46	BACH1	chr2:64380133-64380142	H1-hESC	embryonic stem cell:	n/a	n/a
47	BATF	chr2:64440793-64442081	GM12878	blood:	n/a	n/a
48	BATF	chr2:64510602-64511014	GM12878	blood:	n/a	n/a
49	BATF	chr2:64406971-64407410	GM12878	blood:	n/a	chr2:64407148-64407159 chr2:64407139-64407148
50	BATF	chr2:64356249-64356515	GM12878	blood:	n/a	n/a

(count:1892 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:64477485-64477535	ovcar-3	ovarian:	n/a
2	chr2:64477485-64477535	ovcar-3	ovarian:	n/a
3	chr2:64477485-64477535	Hela-S3	cervix:	n/a
4	chr2:64375257-64375307	MCF10A-Er-Src	breast:	n/a
5	chr2:64399578-64399628	HIPEpiC	eye:	n/a
6	chr2:64371646-64371696	AG09319	gingival:	n/a
7	chr2:64371530-64371580	PFSK-1	brain:	n/a
8	chr2:64455551-64455601	GM19239	blood:	n/a
9	chr2:64371643-64371693	H1-hESC	embryonic stem cell:	embryo
10	chr2:64370690-64370740	GM19239	blood:	n/a
11	chr2:64371202-64371252	NHDF-neo	bronchial:	n/a
12	chr2:64372160-64372210	BJ	skin:	n/a
13	chr2:64370690-64370740	MCF-7	breast:	n/a
14	chr2:64371810-64371860	HL-60	blood:	n/a
15	chr2:64371511-64371561	NT2-D1	testis:	n/a
16	chr2:64488961-64489011	AoSMC	blood vessel:	n/a
17	chr2:64477485-64477535	HAEpiC	amniotic membrane:	n/a
18	chr2:64371530-64371580	SK-N-MC	brain:	n/a
19	chr2:64472941-64472991	HRCEpiC	kidney:	n/a
20	chr2:64399578-64399628	AG04450	lung:	fetal
21	chr2:64494859-64494909	HUVEC	blood vessel:	n/a
22	chr2:64477485-64477535	LNCaP	prostate:	n/a
23	chr2:64371651-64371701	HRCEpiC	kidney:	n/a
24	chr2:64371651-64371701	PFSK-1	brain:	n/a
25	chr2:64440295-64440345	T-47D	breast:	n/a
26	chr2:64371511-64371561	HPAEpiC	pulmonary alveolar:	n/a
27	chr2:64485830-64485880	GM12891	blood:	n/a
28	chr2:64485830-64485880	T-47D	breast:	n/a
29	chr2:64488961-64489011	HCT-116	colon:	n/a
30	chr2:64371646-64371696	HL-60	blood:	n/a
31	chr2:64373042-64373092	NT2-D1	testis:	n/a
32	chr2:64506975-64507025	GM06990	blood:	n/a
33	chr2:64371511-64371561	SKMC	muscle:	n/a
34	chr2:64485830-64485880	CMK	blood:	n/a
35	chr2:64373042-64373092	BE2_C	brain:	n/a
36	chr2:64431245-64431295	CMK	blood:	n/a
37	chr2:64371646-64371696	HEK293	kidney:	embryo
38	chr2:64371766-64371816	GM06990	blood:	n/a
39	chr2:64440295-64440345	GM12892	blood:	n/a
40	chr2:64371651-64371701	Jurkat	blood:	n/a
41	chr2:64455515-64455565	U87	brain:	n/a
42	chr2:64371806-64371856	PANC-1	pancreas:	n/a
43	chr2:64371511-64371561	HEK293	kidney:	embryo
44	chr2:64375257-64375307	Hela-S3	cervix:	n/a
45	chr2:64455515-64455565	RPTEC	kidney:	n/a
46	chr2:64399578-64399628	AG04449	skin:	fetal
47	chr2:64440295-64440345	AG09319	gingival:	n/a
48	chr2:64375257-64375307	A549	lung:	n/a
49	chr2:64371175-64371225	BE2_C	brain:	n/a
50	chr2:64371646-64371696	GM06990	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr2:64494301..64495818-chr2:64498952..64501759,2	MCF-7	breast:
2	chr2:64383958..64386804-chr2:64389964..64393061,3	MCF-7	breast:
3	chr2:64365394..64367023-chr2:64370250..64372565,2	MCF-7	breast:
4	chr2:64370065..64372798-chr2:64488901..64490869,2	MCF-7	breast:
5	chr2:64360272..64363388-chr2:64364975..64368007,3	MCF-7	breast:
6	chr2:64371841..64374701-chr2:64382172..64383968,2	MCF-7	breast:
7	chr2:64354212..64356714-chr2:64359310..64361277,2	MCF-7	breast:
8	chr2:64404382..64407002-chr2:64408680..64411015,2	K562	blood:
9	chr2:64445982..64446909-chr6:6687110..6688056,2	NB4	blood:
10	chr2:64364705..64366411-chr2:64549712..64552538,2	MCF-7	breast:
11	chr2:64419508..64423529-chr2:64424366..64426976,3	K562	blood:
12	chr2:64352794..64354467-chr2:64356091..64358987,2	K562	blood:
13	chr2:64360272..64363388-chr2:64364975..64368007,3	MCF-7	breast:
14	chr2:64389966..64392786-chr2:64393328..64395942,2	MCF-7	breast:
15	chr2:64471845..64474737-chr2:64476534..64479111,2	MCF-7	breast:
16	chr2:64369425..64370995-chr2:64403517..64405606,2	MCF-7	breast:
17	chr2:64438408..64440194-chr2:64451876..64454723,2	K562	blood:
18	chr2:64369678..64373825-chr2:64377273..64380077,4	MCF-7	breast:
19	chr2:64360045..64362986-chr2:64369737..64372450,3	MCF-7	breast:
20	chr2:64502984..64504855-chr2:64508634..64511182,2	K562	blood:
21	chr2:64453821..64455885-chr2:64458593..64460540,2	K562	blood:
22	chr2:64440052..64441742-chr2:64449595..64451315,2	K562	blood:
23	chr2:64371127..64371648-chr3:169482551..169483132,2	Hela-S3	cervix:
24	chr2:64462411..64463958-chr2:64471298..64472836,2	MCF-7	breast:
25	chr2:64495609..64497213-chr2:64499449..64501567,2	K562	blood:
26	chr2:64502984..64504855-chr2:64508634..64511182,2	K562	blood:
27	chr2:64430204..64433000-chr2:64488662..64490502,2	MCF-7	breast:
28	chr2:64364848..64367647-chr2:64381167..64383124,2	K562	blood:
29	chr2:64462411..64463958-chr2:64471298..64472836,2	MCF-7	breast:
30	chr2:64490659..64493693-chr2:64499650..64502494,3	MCF-7	breast:
31	chr2:64489082..64492227-chr2:64492884..64497005,5	MCF-7	breast:
32	chr2:64376170..64379068-chr2:64379402..64380977,2	K562	blood:
33	chr2:64488099..64490246-chr2:64490970..64494395,3	K562	blood:
34	chr2:64357649..64359489-chr2:64370869..64372689,2	K562	blood:
35	chr2:64431125..64433140-chr2:64460196..64462999,2	K562	blood:
36	chr2:64440052..64441742-chr2:64449595..64451315,2	K562	blood:
37	chr2:64438408..64440194-chr2:64451876..64454723,2	K562	blood:
38	chr2:64401304..64403227-chr2:64446509..64448763,2	MCF-7	breast:
39	chr2:64379660..64382611-chr2:64384474..64386718,2	MCF-7	breast:
40	chr2:64465774..64467528-chr2:64473561..64475230,2	MCF-7	breast:
41	chr2:64341051..64343423-chr2:64345002..64348467,3	MCF-7	breast:
42	chr2:64452341..64455321-chr2:64458593..64460845,2	K562	blood:
43	chr2:64364848..64367647-chr2:64381167..64383124,2	K562	blood:
44	chr2:64488028..64492838-chr2:64495770..64499229,4	K562	blood:
45	chr19:12902085..12902808-chr2:64371127..64371837,2	NB4	blood:
46	chr2:64437286..64442036-chr2:64442990..64448045,5	K562	blood:
47	chr2:64509519..64512116-chr2:64514546..64516587,2	K562	blood:
48	chr2:64245248..64247097-chr2:64369855..64371570,2	MCF-7	breast:
49	chr2:64468295..64471597-chr2:64473646..64477829,4	K562	blood:
50	chr2:64369321..64372192-chr2:64393328..64395057,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PELI1-2	chr2:64430424-64432619	NONHSAT071093
2	lnc-LGALSL-2	chr2:64453581-64453626	ENSG00000225889
3	lnc-LGALSL-2	chr2:64428882-64429028	ENSG00000225889.3
4	lnc-LGALSL-2	chr2:64434109-64434179	ENSG00000225889
5	lnc-LGALSL-7	chr2:64483043-64483311	NONHSAT071104
6	lnc-PELI1-2	chr2:64430127-64430222	NONHSAT071093
7	lnc-LGALSL-2	chr2:64478935-64479072	ENSG00000225889
8	lnc-PELI1-2	chr2:64416151-64416266	NONHSAT071093
9	lnc-PELI1-8	chr2:64456631-64456774	NONHSAT071095
10	lnc-PELI1-6	chr2:64422173-64422285	NONHSAT071094
11	lnc-PELI1-8	chr2:64436544-64436839	NONHSAT071095
12	lnc-LGALSL-2	chr2:64441601-64441668	ENSG00000225889.3
13	lnc-PELI1-6	chr2:64418705-64418995	NONHSAT071094
14	lnc-LGALSL-2	chr2:64434106-64434179	ENSG00000225889.3
15	lnc-PELI1-2	chr2:64430424-64432619	NR_033837
16	lnc-LGALSL-2	chr2:64456305-64456422	ENSG00000225889
17	lnc-LGALSL-1	chr2:64501031-64501181	XLOC_001496
18	lnc-PELI1-2	chr2:64412212-64412876	NONHSAT071093
19	lnc-LGALSL-2	chr2:64453581-64453626	ENSG00000225889.3
20	lnc-PELI1-8	chr2:64479554-64479991	NONHSAT071095
21	lnc-VPS54-4	chr2:64371215-64371530	NONHSAT071090
22	lnc-LGALSL-2	chr2:64370373-64370480	ENSG00000225889
23	lnc-LGALSL-2	chr2:64370373-64370480	ENSG00000225889.3
24	lnc-LGALSL-2	chr2:64434106-64434179	ENSG00000225889
25	lnc-PELI1-2	chr2:64428362-64428492	NONHSAT071093
26	lnc-PELI1-2	chr2:64430127-64430222	XLOC_002123
27	lnc-PELI1-2	chr2:64419490-64419592	NR_033837
28	lnc-PELI1-8	chr2:64478782-64479117	NONHSAT071095
29	lnc-LGALSL-2	chr2:64455587-64455656	ENSG00000225889
30	lnc-LGALSL-2	chr2:64456631-64456774	ENSG00000225889
31	lnc-LGALSL-2	chr2:64455557-64455656	ENSG00000225889
32	lnc-LGALSL-2	chr2:64456631-64456781	NONHSAT071099
33	lnc-PELI1-2	chr2:64419490-64419592	XLOC_002123
34	lnc-PELI1-2	chr2:64419490-64419592	NONHSAT071093
35	lnc-PELI1-2	chr2:64416151-64416266	XLOC_002123
36	lnc-LGALSL-2	chr2:64479554-64479960	NONHSAT071103
37	lnc-PELI1-2	chr2:64416151-64416266	NR_033837
38	lnc-PELI1-2	chr2:64412215-64412876	XLOC_002123
39	lnc-LGALSL-2	chr2:64455337-64455710	NONHSAT071099
40	lnc-PELI1-2	chr2:64428362-64428492	XLOC_002123
41	lnc-LGALSL-2	chr2:64478253-64478489	ENSG00000225889
42	lnc-VPS54-4	chr2:64371215-64371554	NONHSAT071089
43	lnc-LGALSL-2	chr2:64428882-64429028	ENSG00000225889
44	lnc-PELI1-2	chr2:64430424-64432619	XLOC_002123
45	lnc-PELI1-3	chr2:64503035-64503717	XLOC_002124
46	lnc-PELI1-6	chr2:64418709-64418995	ucscGeneNc_uc002scw_2
47	lnc-VPS54-4	chr2:64370452-64370660	NONHSAT071090
48	lnc-PELI1-3	chr2:64503965-64503985	XLOC_002124
49	lnc-PELI1-6	chr2:64422173-64422286	ucscGeneNc_uc002scw_2
50	lnc-LGALSL-2	chr2:64456631-64456774	NONHSAT071103

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

Extended variants
information (count: 6188 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:6188 , 50 per page) page: 1 2 3 4 5 6 7 ... 124

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371182170	chr2:64343869-64343870	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs187792931	chr2:64343875-64343876	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs146715878	chr2:64343903-64343904	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs139329739	chr2:64343915-64343916	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs575873904	chr2:64343921-64343922	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs192459859	chr2:64343966-64343967	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs566000172	chr2:64343990-64343991	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs184677777	chr2:64343994-64343995	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs573384919	chr2:64344074-64344075	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs540686186	chr2:64344173-64344174	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs188623171	chr2:64344179-64344180	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs150831068	chr2:64344194-64344195	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs142634009	chr2:64344416-64344417	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs116202151	chr2:64344447-64344448	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs192799276	chr2:64344462-64344463	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs556250754	chr2:64344479-64344480	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs77027606	chr2:64344480-64344481	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs367679378	chr2:64344500-64344501	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs370405932	chr2:64344523-64344524	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs529988833	chr2:64344549-64344550	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs550966346	chr2:64344563-64344564	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs184699100	chr2:64344574-64344575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189227783	chr2:64344589-64344590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566282661	chr2:64344623-64344624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs11454015	chr2:64344632-64344633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs180760700	chr2:64344757-64344758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183549881	chr2:64344774-64344775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574180676	chr2:64344783-64344784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150954789	chr2:64344806-64344807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537473210	chr2:64344817-64344818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549748537	chr2:64344834-64344835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200048099	chr2:64344947-64344948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189458113	chr2:64344948-64344949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140801113	chr2:64344956-64344957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555206282	chr2:64344990-64344991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573450210	chr2:64344992-64344993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536785154	chr2:64345007-64345008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559130541	chr2:64345013-64345014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577262891	chr2:64345044-64345045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181836738	chr2:64345061-64345062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1814406	chr2:64345071-64345072	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs375532021	chr2:64345100-64345101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368046614	chr2:64345133-64345134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576388417	chr2:64345164-64345165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528700946	chr2:64345194-64345195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs371883386	chr2:64345195-64345196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs147773207	chr2:64345221-64345222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545407084	chr2:64345267-64345268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551930985	chr2:64345321-64345322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564074855	chr2:64345364-64345365	Weak transcription 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:5062 , 50 per page) page: 1 2 3 4 5 6 7 ... 102

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	chr2:64334000-64349200	Weak transcription	Fetal Kidney	kidney
4	chr2:64334400-64350200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr2:64334800-64346600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:64335000-64365200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:64335200-64348000	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:64335200-64348200	Weak transcription	Placenta	Placenta
9	chr2:64336000-64344400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr2:64336400-64344400	Enhancers	Primary T cells from cord blood	blood
11	chr2:64336400-64351400	Weak transcription	Fetal Stomach	stomach
12	chr2:64336400-64353400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:64338200-64344000	Enhancers	Colon Smooth Muscle	Colon
14	chr2:64338200-64344200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:64338600-64350800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:64338800-64344600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:64339200-64344200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:64339400-64345000	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr2:64340400-64344200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr2:64340400-64344200	Enhancers	Brain Anterior Caudate	brain
21	chr2:64340400-64344400	Enhancers	Stomach Mucosa	stomach
22	chr2:64340400-64370200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:64340600-64344000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:64340600-64344400	Enhancers	NHDF-Ad	bronchial
25	chr2:64340800-64344000	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr2:64340800-64344200	Enhancers	Fetal Lung	lung
27	chr2:64341000-64344000	Enhancers	HepG2	liver
28	chr2:64341000-64344400	Enhancers	Adipose Nuclei	Adipose
29	chr2:64341000-64344400	Enhancers	Fetal Intestine Small	intestine
30	chr2:64341000-64344400	Enhancers	HMEC	breast
31	chr2:64341000-64344600	Enhancers	Fetal Intestine Large	intestine
32	chr2:64341200-64344000	Enhancers	Brain Angular Gyrus	brain
33	chr2:64341200-64344200	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr2:64341200-64344200	Enhancers	Brain Hippocampus Middle	brain
35	chr2:64341200-64344400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:64341200-64345200	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr2:64341400-64344200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr2:64341400-64344200	Enhancers	Primary B cells from peripheral blood	blood
39	chr2:64341400-64344400	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr2:64341600-64344000	Enhancers	Right Atrium	heart
41	chr2:64341600-64344200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:64341600-64344200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr2:64341600-64344400	Enhancers	Colonic Mucosa	Colon
44	chr2:64341600-64344400	Enhancers	Small Intestine	intestine
45	chr2:64341600-64344400	Enhancers	HUVEC	blood vessel
46	chr2:64341600-64344800	Enhancers	Brain Substantia Nigra	brain
47	chr2:64341800-64344000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr2:64341800-64344200	Enhancers	NHEK	skin
49	chr2:64341800-64344400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr2:64341800-64344400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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