Variant report

Variant	esv3379758
Chromosome Location	chr2:114646832-114649180
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:910)
CpG islands
(count:855)
Chromatin interactive
region (count:17)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:910 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:114648346-114649013	K562	blood:	n/a	n/a
2	ARID3A	chr2:114647137-114647723	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:114646876-114647708	K562	blood:	n/a	n/a
4	ARID3A	chr2:114648390-114648811	HepG2	liver:	n/a	n/a
5	ATF2	chr2:114647045-114647604	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr2:114648053-114649147	GM12878	blood:	n/a	n/a
7	ATF2	chr2:114648124-114649167	GM12878	blood:	n/a	n/a
8	ATF2	chr2:114646819-114647659	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr2:114647004-114647954	GM12878	blood:	n/a	n/a
10	ATF2	chr2:114648378-114648664	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr2:114646723-114647747	GM12878	blood:	n/a	n/a
12	ATF3	chr2:114646956-114647824	A549	lung:	n/a	n/a
13	ATF3	chr2:114646922-114647621	A549	lung:	n/a	n/a
14	BACH1	chr2:114647045-114647538	H1-hESC	embryonic stem cell:	n/a	n/a
15	BATF	chr2:114647008-114647518	GM12878	blood:	n/a	n/a
16	BCL11A	chr2:114647180-114647502	GM12878	blood:	n/a	n/a
17	BCL11A	chr2:114647053-114647509	GM12878	blood:	n/a	n/a
18	BCL3	chr2:114646983-114647659	A549	lung:	n/a	chr2:114647523-114647536
19	BCL3	chr2:114646990-114647726	A549	lung:	n/a	chr2:114647523-114647536
20	BCL3	chr2:114647087-114647840	GM12878	blood:	n/a	chr2:114647523-114647536
21	BCL3	chr2:114647905-114648703	GM12878	blood:	n/a	chr2:114648180-114648193 chr2:114648094-114648103 chr2:114648262-114648271
22	BCLAF1	chr2:114648059-114648590	GM12878	blood:	n/a	chr2:114648180-114648193 chr2:114648094-114648103 chr2:114648262-114648271
23	BCLAF1	chr2:114646904-114649154	GM12878	blood:	n/a	chr2:114648180-114648193 chr2:114648094-114648103 chr2:114647523-114647536 chr2:114648262-114648271
24	BCLAF1	chr2:114646877-114647905	GM12878	blood:	n/a	chr2:114647523-114647536
25	BHLHE40	chr2:114648189-114649143	K562	blood:	n/a	n/a
26	BHLHE40	chr2:114647029-114647862	K562	blood:	n/a	chr2:114647822-114647838
27	BHLHE40	chr2:114647090-114649118	GM12878	blood:	n/a	chr2:114647822-114647838 chr2:114647998-114648014
28	BRCA1	chr2:114647012-114647567	H1-hESC	embryonic stem cell:	n/a	n/a
29	BRCA1	chr2:114646834-114647754	Hela-S3	cervix:	n/a	n/a
30	BRCA1	chr2:114647131-114647594	HepG2	liver:	n/a	n/a
31	BRCA1	chr2:114647040-114647522	GM12878	blood:	n/a	n/a
32	CBX3	chr2:114647090-114647666	K562	blood:	n/a	n/a
33	CBX3	chr2:114646869-114647987	K562	blood:	n/a	n/a
34	CCNT2	chr2:114647119-114648625	K562	blood:	n/a	chr2:114647919-114647928 chr2:114648036-114648045 chr2:114648123-114648132
35	CEBPB	chr2:114647029-114647530	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPB	chr2:114647535-114647747	HepG2	liver:	n/a	n/a
37	CEBPB	chr2:114648204-114649216	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr2:114647222-114647780	K562	blood:	n/a	n/a
39	CEBPB	chr2:114646987-114647741	HepG2	liver:	n/a	n/a
40	CEBPB	chr2:114648105-114649058	GM12878	blood:	n/a	n/a
41	CEBPB	chr2:114647310-114647509	HepG2	liver:	n/a	n/a
42	CEBPB	chr2:114647115-114647634	HepG2	liver:	n/a	n/a
43	CEBPB	chr2:114647066-114647757	K562	blood:	n/a	n/a
44	CEBPB	chr2:114646501-114647930	GM12878	blood:	n/a	n/a
45	CEBPB	chr2:114647035-114647769	A549	lung:	n/a	n/a
46	CEBPB	chr2:114648250-114648781	K562	blood:	n/a	n/a
47	CEBPB	chr2:114647162-114647750	A549	lung:	n/a	n/a
48	CEBPB	chr2:114647009-114647824	Hela-S3	cervix:	n/a	n/a
49	CEBPD	chr2:114646996-114647880	HepG2	liver:	n/a	n/a
50	CEBPD	chr2:114647011-114648054	K562	blood:	n/a	n/a

(count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:114647431-114647481	GM19239	blood:	n/a
2	chr2:114647431-114647481	GM19239	blood:	n/a
3	chr2:114647787-114647837	HMEC	breast:	n/a
4	chr2:114648106-114648156	PrEC	prostate:	n/a
5	chr2:114647455-114647505	SK-N-MC	brain:	n/a
6	chr2:114647455-114647505	PANC-1	pancreas:	n/a
7	chr2:114647455-114647505	K562	blood:	n/a
8	chr2:114647750-114647800	HCT-116	colon:	n/a
9	chr2:114647455-114647505	Caco-2	colon:	n/a
10	chr2:114647035-114647085	Hela-S3	cervix:	n/a
11	chr2:114647416-114647466	BE2_C	brain:	n/a
12	chr2:114647447-114647497	NB4	blood:	n/a
13	chr2:114647035-114647085	GM12892	blood:	n/a
14	chr2:114647447-114647497	MCF-7	breast:	n/a
15	chr2:114647447-114647497	CMK	blood:	n/a
16	chr2:114647416-114647466	SK-N-MC	brain:	n/a
17	chr2:114647787-114647837	AG09309	skin:	n/a
18	chr2:114647389-114647439	HCPEpiC	choroid plexus:	n/a
19	chr2:114647312-114647362	GM12878	blood:	n/a
20	chr2:114647455-114647505	AG04449	skin:	fetal
21	chr2:114648509-114648559	PANC-1	pancreas:	n/a
22	chr2:114647035-114647085	NH-A	brain:	n/a
23	chr2:114647416-114647466	SAEC	small airway:	n/a
24	chr2:114648509-114648559	NT2-D1	testis:	n/a
25	chr2:114648106-114648156	SK-N-SH_RA	brain:	n/a
26	chr2:114647103-114647153	HCT-116	colon:	n/a
27	chr2:114647750-114647800	Hela-S3	cervix:	n/a
28	chr2:114647455-114647505	U87	brain:	n/a
29	chr2:114647352-114647402	A549	lung:	n/a
30	chr2:114648509-114648559	HCF	heart:	n/a
31	chr2:114647103-114647153	NHBE	bronchial:	n/a
32	chr2:114648106-114648156	LNCaP	prostate:	n/a
33	chr2:114647455-114647505	GM12891	blood:	n/a
34	chr2:114647416-114647466	HMEC	breast:	n/a
35	chr2:114648106-114648156	MCF-7	breast:	n/a
36	chr2:114647416-114647466	T-47D	breast:	n/a
37	chr2:114647918-114647968	BE2_C	brain:	n/a
38	chr2:114647431-114647481	CMK	blood:	n/a
39	chr2:114647750-114647800	HCF	heart:	n/a
40	chr2:114647416-114647466	HCT-116	colon:	n/a
41	chr2:114647312-114647362	HCF	heart:	n/a
42	chr2:114647352-114647402	NH-A	brain:	n/a
43	chr2:114647416-114647466	SK-N-SH	brain:	n/a
44	chr2:114647787-114647837	MCF10A-Er-Src	breast:	n/a
45	chr2:114647750-114647800	CMK	blood:	n/a
46	chr2:114647035-114647085	A549	lung:	n/a
47	chr2:114647103-114647153	AG10803	skin:	n/a
48	chr2:114647416-114647466	U87	brain:	n/a
49	chr2:114647312-114647362	U87	brain:	n/a
50	chr2:114647416-114647466	IMR90	lung:	fetal

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:114513771..114515245-chr2:114647371..114648721,7	MCF-7	breast:
2	chr2:114510034..114517579-chr2:114643441..114655407,23	MCF-7	breast:
3	chr2:114511479..114519908-chr2:114641728..114650266,13	MCF-7	breast:
4	chr2:114604030..114606548-chr2:114644904..114647521,3	K562	blood:
5	chr2:114648278..114650934-chr2:114677225..114679132,2	K562	blood:
6	chr2:114647583..114648099-chr20:39657379..39658079,2	Hela-S3	cervix:
7	chr2:114647663..114650657-chr2:114707458..114709843,3	K562	blood:
8	chr2:114647663..114650657-chr2:114707458..114709843,2	K562	blood:
9	chr2:75060777..75061295-chr2:114646568..114647319,2	NB4	blood:
10	chr2:114648006..114650237-chr2:114689748..114692234,2	K562	blood:
11	chr2:114648161..114648926-chr6:27099888..27100517,2	Hela-S3	cervix:
12	chr2:114500995..114503917-chr2:114646360..114648344,2	MCF-7	breast:
13	chr2:105945454..105947093-chr2:114645537..114647581,2	K562	blood:
14	chr2:114512680..114516386-chr2:114646106..114650521,15	K562	blood:
15	chr2:114613082..114614905-chr2:114645672..114647278,2	K562	blood:
16	chr2:114512629..114516386-chr2:114645660..114650521,15	K562	blood:
17	chr10:1033868..1034831-chr2:114647091..114647827,2	HCT-116	colon:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC35F5-3	chr2:114648470-114648569	NR_110174
2	lnc-SLC35F5-18	chr2:114645780-114647327	ENSG00000270019.1

No data

Variant related genes	Relation type
ENSG00000270019	TF binding region
ACTR3	TF binding region
ENSG00000270019	CpG island
ACTR3	CpG island
ENSG00000198900	chromatin interactions
ENSG00000135966	chromatin interactions
ENSG00000239077	chromatin interactions
ENSG00000115091	chromatin interactions
ENSG00000272711	chromatin interactions
ENSG00000124635	chromatin interactions
ENSG00000115084	chromatin interactions
ENSG00000205740	chromatin interactions
ENSG00000107937	chromatin interactions
ENSG00000159399	chromatin interactions

Extended variants
information (count: 103 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534587581	chr2:114646846-114646847	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
2	rs7605071	chr2:114646847-114646848	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs567343220	chr2:114647001-114647002	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
4	rs536206288	chr2:114647007-114647008	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
5	rs149965217	chr2:114647028-114647029	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
6	rs576459930	chr2:114647034-114647035	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
7	rs539264249	chr2:114647084-114647085	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
8	rs558869053	chr2:114647133-114647134	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
9	rs147637827	chr2:114647161-114647162	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
10	rs181035242	chr2:114647176-114647177	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
11	rs555267560	chr2:114647214-114647215	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
12	rs368620381	chr2:114647261-114647262	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
13	rs142212142	chr2:114647285-114647286	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
14	rs563443587	chr2:114647324-114647325	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
15	rs532099014	chr2:114647333-114647334	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs545483948	chr2:114647345-114647346	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs147913987	chr2:114647346-114647347	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs546010273	chr2:114647348-114647349	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs559258604	chr2:114647356-114647357	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs36115123	chr2:114647361-114647362	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs528241616	chr2:114647364-114647365	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs13429261	chr2:114647392-114647393	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs7564594	chr2:114647432-114647433	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs530085084	chr2:114647482-114647483	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs2279838	chr2:114647485-114647486	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs569840634	chr2:114647498-114647499	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs570168778	chr2:114647517-114647518	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs1504044	chr2:114647551-114647552	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs144410131	chr2:114647555-114647556	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs566293362	chr2:114647562-114647563	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs535188294	chr2:114647575-114647576	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs112209177	chr2:114647586-114647587	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs575206402	chr2:114647618-114647619	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs147326241	chr2:114647649-114647650	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs543445513	chr2:114647660-114647661	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs74423392	chr2:114647664-114647665	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs556667500	chr2:114647787-114647788	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs576896615	chr2:114647805-114647806	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs11538679	chr2:114647807-114647808	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs545600121	chr2:114647812-114647813	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs559363463	chr2:114647823-114647824	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs376457375	chr2:114647837-114647838	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs528277571	chr2:114647866-114647867	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs541623313	chr2:114647889-114647890	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs201719881	chr2:114647907-114647908	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs201766782	chr2:114647908-114647909	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs368760713	chr2:114647917-114647918	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs186459184	chr2:114647923-114647924	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs532504291	chr2:114647936-114647937	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs552402029	chr2:114647945-114647946	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD

Chromatin state (count:224 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114644600-114649600	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr2:114645400-114647000	Weak transcription	Lung	lung
3	chr2:114645400-114647200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr2:114645400-114649800	Active TSS	GM12878-XiMat	blood
5	chr2:114645800-114648800	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr2:114645800-114649600	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr2:114646000-114647000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr2:114646000-114647000	Flanking Active TSS	Osteobl	bone
9	chr2:114646000-114647200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:114646000-114649000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:114646000-114649200	Active TSS	H9 Cell Line	embryonic stem cell
12	chr2:114646000-114649800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:114646000-114650000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:114646200-114647000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr2:114646200-114647200	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr2:114646200-114649000	Active TSS	Stomach Mucosa	stomach
17	chr2:114646200-114649200	Active TSS	Fetal Kidney	kidney
18	chr2:114646200-114649400	Active TSS	H1 Cell Line	embryonic stem cell
19	chr2:114646200-114649400	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr2:114646400-114647000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
21	chr2:114646400-114647000	Flanking Active TSS	Primary B cells from peripheral blood	blood
22	chr2:114646400-114647000	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr2:114646400-114647000	Flanking Active TSS	Liver	Liver
24	chr2:114646400-114647000	Weak transcription	Spleen	Spleen
25	chr2:114646400-114647200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:114646400-114647200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr2:114646400-114648800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:114646400-114648800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr2:114646400-114649200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr2:114646400-114649200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:114646400-114649200	Active TSS	Fetal Muscle Trunk	muscle
32	chr2:114646400-114649400	Active TSS	Colonic Mucosa	Colon
33	chr2:114646400-114649800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:114646400-114649800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:114646400-114650000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:114646400-114650000	Active TSS	Psoas Muscle	Psoas
37	chr2:114646400-114650000	Active TSS	HSMM	muscle
38	chr2:114646400-114650200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:114646400-114650800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:114646600-114647000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr2:114646600-114647000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr2:114646600-114647000	Flanking Active TSS	Brain Cingulate Gyrus	brain
43	chr2:114646600-114647000	Active TSS	Brain Germinal Matrix	brain
44	chr2:114646600-114647000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr2:114646600-114647000	Flanking Active TSS	Placenta	Placenta
46	chr2:114646600-114647200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
47	chr2:114646600-114647200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr2:114646600-114647200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr2:114646600-114647200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr2:114646600-114647400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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