Variant report

Variant	nsv1060043
Chromosome Location	chr21:47981878-48048087
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:380)
CpG islands
(count:1038)
Chromatin interactive
region (count:56)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:380 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr21:48028361-48029224	GM12878	blood:	n/a	n/a
2	ATF3	chr21:48017955-48018252	K562	blood:	n/a	chr21:48018068-48018088
3	BATF	chr21:48028436-48029053	GM12878	blood:	n/a	n/a
4	BATF	chr21:48028473-48028947	GM12878	blood:	n/a	n/a
5	BCLAF1	chr21:48025984-48026402	GM12878	blood:	n/a	n/a
6	BCLAF1	chr21:48028466-48029094	GM12878	blood:	n/a	n/a
7	BHLHE40	chr21:47984475-47984548	K562	blood:	n/a	n/a
8	BHLHE40	chr21:47983229-47983425	K562	blood:	n/a	n/a
9	CBX3	chr21:48017809-48018333	K562	blood:	n/a	n/a
10	CBX3	chr21:48014212-48014536	K562	blood:	n/a	n/a
11	CBX3	chr21:48017920-48018249	K562	blood:	n/a	n/a
12	CEBPB	chr21:47989027-47989372	HepG2	liver:	n/a	n/a
13	CEBPB	chr21:48047658-48048067	K562	blood:	n/a	n/a
14	CEBPB	chr21:48047791-48047968	K562	blood:	n/a	n/a
15	CEBPB	chr21:47989029-47989304	A549	lung:	n/a	n/a
16	CEBPB	chr21:47988938-47989373	IMR90	lung:	n/a	n/a
17	CEBPB	chr21:48020264-48020558	K562	blood:	n/a	n/a
18	CTCF	chr21:48028993-48029068	GM12878	blood:	n/a	n/a
19	CTCF	chr21:48018080-48018230	K562	blood:	n/a	chr21:48018186-48018199
20	CTCF	chr21:48015320-48015470	GM12866	blood:	n/a	n/a
21	CTCF	chr21:47988076-47988108	MCF-7	breast:	n/a	n/a
22	CTCF	chr21:48002020-48002170	HepG2	liver:	n/a	n/a
23	CTCF	chr21:47988000-47988150	HCPEpiC	choroid plexus:	n/a	n/a
24	CTCF	chr21:48007283-48007335	LNCaP	prostate:	n/a	n/a
25	CTCF	chr21:47995160-47995310	MCF-7	breast:	n/a	n/a
26	CTCF	chr21:48018049-48018377	K562	blood:	n/a	chr21:48018186-48018199
27	CTCF	chr21:47988007-47988145	HepG2	liver:	n/a	n/a
28	CTCF	chr21:48018165-48018252	K562	blood:	n/a	chr21:48018186-48018199
29	CTCF	chr21:47988020-47988170	WERI-Rb-1	eye:	n/a	n/a
30	CTCF	chr21:48046900-48047050	HepG2	liver:	n/a	n/a
31	CTCF	chr21:47988074-47988126	MCF-7	breast:	n/a	n/a
32	CTCF	chr21:47988042-47988109	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr21:48018100-48018250	GM12867	blood:	n/a	chr21:48018186-48018199
34	CTCF	chr21:48028820-48028970	GM12873	blood:	n/a	n/a
35	CTCF	chr21:48018060-48018210	Hela-S3	cervix:	n/a	chr21:48018186-48018199
36	CTCF	chr21:48046860-48047010	HepG2	liver:	n/a	n/a
37	CTCF	chr21:48008431-48008493	Spleen_OC	spleen:	n/a	n/a
38	CTCF	chr21:48028680-48028830	GM12864	blood:	n/a	n/a
39	CTCF	chr21:48018005-48018273	K562	blood:	n/a	chr21:48018186-48018199
40	CTCF	chr21:48028977-48029064	GM10266	blood:	n/a	n/a
41	CTCF	chr21:48018048-48018372	K562	blood:	n/a	chr21:48018186-48018199
42	CTCF	chr21:47987940-47988090	HL-60	blood:	n/a	n/a
43	CTCF	chr21:48018020-48018170	K562	blood:	n/a	n/a
44	CTCF	chr21:47988095-47988122	HepG2	liver:	n/a	n/a
45	EBF1	chr21:48026020-48026423	GM12878	blood:	n/a	n/a
46	EBF1	chr21:48042233-48042490	GM12878	blood:	n/a	n/a
47	EBF1	chr21:48025973-48026546	GM12878	blood:	n/a	n/a
48	EGR1	chr21:48018016-48018248	K562	blood:	n/a	chr21:48018193-48018206
49	EGR1	chr21:48039894-48040150	K562	blood:	n/a	n/a
50	EGR1	chr21:48018008-48018258	K562	blood:	n/a	chr21:48018193-48018206

(count:1038 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:48021941-48021991	RPTEC	kidney:	n/a
2	chr21:48021941-48021991	RPTEC	kidney:	n/a
3	chr21:48025691-48025741	NB4	blood:	n/a
4	chr21:48026181-48026231	GM12878	blood:	n/a
5	chr21:48019296-48019346	GM12878	blood:	n/a
6	chr21:48026298-48026348	HCF	heart:	n/a
7	chr21:48025100-48025150	U87	brain:	n/a
8	chr21:48015365-48015415	NHDF-neo	bronchial:	n/a
9	chr21:48019296-48019346	NH-A	brain:	n/a
10	chr21:48017232-48017282	Hela-S3	cervix:	n/a
11	chr21:48019296-48019346	HPAEpiC	pulmonary alveolar:	n/a
12	chr21:48025691-48025741	AG09319	gingival:	n/a
13	chr21:48015365-48015415	SAEC	small airway:	n/a
14	chr21:48025155-48025205	AoSMC	blood vessel:	n/a
15	chr21:47987607-47987657	U87	brain:	n/a
16	chr21:47987607-47987657	HMEC	breast:	n/a
17	chr21:48019296-48019346	Hepatocyte	liver:	n/a
18	chr21:48022339-48022389	A549	lung:	n/a
19	chr21:48018790-48018840	HCPEpiC	choroid plexus:	n/a
20	chr21:48024683-48024733	SK-N-MC	brain:	n/a
21	chr21:48022339-48022389	ProgFib	skin:	n/a
22	chr21:47987607-47987657	HRPEpiC	eye:	n/a
23	chr21:48022339-48022389	U87	brain:	n/a
24	chr21:48015365-48015415	ProgFib	skin:	n/a
25	chr21:48017232-48017282	U87	brain:	n/a
26	chr21:48024639-48024689	SK-N-SH_RA	brain:	n/a
27	chr21:48018632-48018682	HNPCEpiC	eye:	n/a
28	chr21:48024639-48024689	U87	brain:	n/a
29	chr21:48017232-48017282	NT2-D1	testis:	n/a
30	chr21:48018632-48018682	HL-60	blood:	n/a
31	chr21:48025691-48025741	H1-hESC	embryonic stem cell:	embryo
32	chr21:48018632-48018682	HEEpiC	esophagus:	n/a
33	chr21:48018632-48018682	HEK293	kidney:	embryo
34	chr21:48018608-48018658	HPAEpiC	pulmonary alveolar:	n/a
35	chr21:48018608-48018658	BJ	skin:	n/a
36	chr21:48026181-48026231	HCM	heart:	n/a
37	chr21:48025155-48025205	HAEpiC	amniotic membrane:	n/a
38	chr21:48026181-48026231	AoSMC	blood vessel:	n/a
39	chr21:48018790-48018840	HCF	heart:	n/a
40	chr21:48021941-48021991	HCM	heart:	n/a
41	chr21:48018608-48018658	SK-N-SH	brain:	n/a
42	chr21:48025155-48025205	HEK293	kidney:	embryo
43	chr21:48017232-48017282	GM06990	blood:	n/a
44	chr21:48022339-48022389	ovcar-3	ovarian:	n/a
45	chr21:48025100-48025150	PANC-1	pancreas:	n/a
46	chr21:48025100-48025150	SK-N-SH_RA	brain:	n/a
47	chr21:48019296-48019346	GM12892	blood:	n/a
48	chr21:48025155-48025205	H1-hESC	embryonic stem cell:	embryo
49	chr21:48025691-48025741	HepG2	liver:	n/a
50	chr21:48022339-48022389	NH-A	brain:	n/a

(count:56 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr21:48019242..48021637-chr21:48023777..48026826,3	MCF-7	breast:
2	chr21:48027694..48030453-chr21:48039157..48041006,2	MCF-7	breast:
3	chr21:47984970..47986522-chr21:48008602..48011495,2	K562	blood:
4	chr21:47980561..47982874-chr21:47984744..47986654,2	MCF-7	breast:
5	chr21:47995242..47996902-chr21:48001318..48004298,2	K562	blood:
6	chr21:48017805..48022026-chr21:48053687..48056894,4	K562	blood:
7	chr21:47986038..47989683-chr21:48053926..48057221,4	MCF-7	breast:
8	chr21:48005218..48007630-chr21:48055834..48057649,2	K562	blood:
9	chr21:48003128..48004642-chr21:48053741..48055698,2	MCF-7	breast:
10	chr21:48025603..48028303-chr21:48029330..48031658,3	MCF-7	breast:
11	chr21:47986444..47988898-chr21:48015731..48017367,2	K562	blood:
12	chr21:48002194..48004914-chr21:48055144..48057333,3	MCF-7	breast:
13	chr21:48043562..48050060-chr21:48053506..48056859,7	MCF-7	breast:
14	chr21:48016127..48018173-chr21:48020936..48022713,2	K562	blood:
15	chr21:47872410..47874001-chr21:47987885..47990582,2	K562	blood:
16	chr21:47982466..47985451-chr21:47987034..47988568,2	MCF-7	breast:
17	chr21:47971877..47975830-chr21:47983188..47986029,3	K562	blood:
18	chr21:47974804..47979372-chr21:47979836..47984256,6	MCF-7	breast:
19	chr21:47986444..47988898-chr21:48015731..48017367,2	K562	blood:
20	chr21:48013557..48016686-chr21:48017781..48019868,3	MCF-7	breast:
21	chr21:48044131..48047004-chr21:48048003..48050751,2	MCF-7	breast:
22	chr21:48016127..48018173-chr21:48020936..48022713,2	K562	blood:
23	chr21:48013557..48016686-chr21:48017781..48019868,3	MCF-7	breast:
24	chr21:47979855..47982153-chr21:48055162..48056734,2	MCF-7	breast:
25	chr21:48027694..48030453-chr21:48039157..48041006,2	MCF-7	breast:
26	chr21:48021540..48023901-chr21:48055495..48057109,2	MCF-7	breast:
27	chr21:47995242..47996902-chr21:48001318..48004298,2	K562	blood:
28	chr21:48042730..48044237-chr21:48044461..48046707,2	K562	blood:
29	chr21:47973166..47976163-chr21:48002439..48005009,2	K562	blood:
30	chr21:47877021..47880570-chr21:47984512..47987705,4	K562	blood:
31	chr21:48025522..48028149-chr21:48060514..48063166,2	MCF-7	breast:
32	chr21:48028979..48030812-chr21:48051870..48054019,2	K562	blood:
33	chr21:47984970..47986522-chr21:48008602..48011495,2	K562	blood:
34	chr21:48010670..48012334-chr21:48047542..48049804,2	K562	blood:
35	chr21:48017941..48023722-chr21:48025363..48028133,5	K562	blood:
36	chr21:48016422..48019126-chr21:48030129..48032645,2	K562	blood:
37	chr21:48024575..48027546-chr21:48055306..48056858,2	K562	blood:
38	chr21:47990428..47992783-chr21:47994801..47997759,2	K562	blood:
39	chr21:47977884..47980372-chr21:47985950..47987706,2	K562	blood:
40	chr21:47972221..47973948-chr21:47980674..47982187,2	K562	blood:
41	chr21:48048002..48052146-chr21:48052427..48057052,6	K562	blood:
42	chr21:48045325..48047440-chr21:48054807..48056877,2	K562	blood:
43	chr21:48023339..48026982-chr21:48053855..48056881,6	MCF-7	breast:
44	chr21:48016422..48019126-chr21:48030129..48032645,2	K562	blood:
45	chr21:48010670..48012334-chr21:48047542..48049804,2	K562	blood:
46	chr21:48044131..48047004-chr21:48048003..48050751,2	MCF-7	breast:
47	chr21:48043406..48045723-chr21:48050633..48054621,3	K562	blood:
48	chr21:48021498..48023722-chr21:48025363..48027869,3	K562	blood:
49	chr21:47920604..47922605-chr21:48015742..48017826,2	K562	blood:
50	chr21:48043420..48045155-chr21:48055192..48058063,2	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	DIP2A	hsa-miR-125a-5p	chr21:47989806-47989829

Variant related genes	Relation type
DIP2A	TF binding region
S100B	TF binding region
DIP2A	CpG island
S100B	CpG island
ENSG00000160307	chromatin interactions
ENSG00000160305	chromatin interactions
ENSG00000160310	chromatin interactions

Extended variants
information (count: 2685 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:2685 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2839326	chr21:47981878-47981879	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs568022558	chr21:47981917-47981918	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs148713554	chr21:47981955-47981956	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs567396992	chr21:47981957-47981958	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs536441560	chr21:47981976-47981977	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs547443615	chr21:47982032-47982033	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs67935828	chr21:47982040-47982041	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs373458172	chr21:47982058-47982059	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs573152720	chr21:47982122-47982123	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs7281133	chr21:47982145-47982146	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs558843258	chr21:47982186-47982187	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs77778433	chr21:47982328-47982329	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs75685355	chr21:47982352-47982353	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs2070430	chr21:47982363-47982364	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs574827640	chr21:47982380-47982381	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs117911182	chr21:47982389-47982390	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs549507833	chr21:47982508-47982509	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs572440535	chr21:47982523-47982524	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs569309564	chr21:47982576-47982577	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs530269033	chr21:47982589-47982590	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs34400989	chr21:47982592-47982593	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs564096094	chr21:47982599-47982600	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs576198593	chr21:47982600-47982601	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs151280238	chr21:47982608-47982609	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs561938578	chr21:47982621-47982622	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs2839327	chr21:47982652-47982653	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs547406625	chr21:47982679-47982680	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs34599663	chr21:47982738-47982739	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs532840183	chr21:47982750-47982751	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs140474448	chr21:47982751-47982752	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs370559622	chr21:47982784-47982785	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs532635736	chr21:47982799-47982800	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs144411109	chr21:47982830-47982831	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs570923474	chr21:47982858-47982859	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs538419254	chr21:47982876-47982877	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs549990715	chr21:47982950-47982951	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs112691003	chr21:47983017-47983018	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs146605910	chr21:47983073-47983074	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs743349	chr21:47983089-47983090	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs141455345	chr21:47983096-47983097	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs8127425	chr21:47983121-47983122	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs193172731	chr21:47983123-47983124	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs138925665	chr21:47983205-47983206	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs550445130	chr21:47983245-47983246	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs576484806	chr21:47983265-47983266	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs543639420	chr21:47983295-47983296	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs115728142	chr21:47983303-47983304	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs117311752	chr21:47983304-47983305	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs541334521	chr21:47983311-47983312	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs149038483	chr21:47983348-47983349	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:36)

Disease	PMID	Source
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	17899364	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:1557 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47943600-47990600	Strong transcription	Fetal Stomach	stomach
2	chr21:47947600-47989000	Strong transcription	Dnd41	blood
3	chr21:47947600-47991000	Strong transcription	Fetal Muscle Leg	muscle
4	chr21:47948400-47993600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr21:47948600-47993200	Strong transcription	Fetal Intestine Large	intestine
6	chr21:47949000-47988200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr21:47949000-47993600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr21:47949800-47991800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr21:47950000-47989200	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr21:47950000-47991000	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr21:47950200-47993200	Strong transcription	Stomach Smooth Muscle	stomach
12	chr21:47953000-47988200	Strong transcription	Gastric	stomach
13	chr21:47953000-47988600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr21:47953200-47983400	Strong transcription	Brain Inferior Temporal Lobe	brain
15	chr21:47953200-47988400	Strong transcription	Fetal Intestine Small	intestine
16	chr21:47953200-47993000	Strong transcription	Osteobl	bone
17	chr21:47953400-47988000	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr21:47956200-48001800	Weak transcription	Stomach Mucosa	stomach
19	chr21:47959200-47983400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr21:47961600-47992800	Strong transcription	Brain Hippocampus Middle	brain
21	chr21:47964600-47988400	Strong transcription	Brain Germinal Matrix	brain
22	chr21:47965200-47991200	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr21:47965800-47988600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr21:47965800-47993400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr21:47966200-47993400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr21:47966400-47987800	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr21:47966600-47988200	Strong transcription	Esophagus	oesophagus
28	chr21:47966800-47985400	Strong transcription	HMEC	breast
29	chr21:47966800-47985800	Weak transcription	K562	blood
30	chr21:47967400-47994800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr21:47968600-47990800	Strong transcription	Fetal Brain Female	brain
32	chr21:47969400-47987600	Strong transcription	Aorta	Aorta
33	chr21:47969600-47988200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr21:47969600-47988400	Strong transcription	Colonic Mucosa	Colon
35	chr21:47969800-47989200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr21:47970200-47992400	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr21:47970400-47988200	Strong transcription	Placenta Amnion	Placenta Amnion
38	chr21:47970400-47993200	Strong transcription	Brain Cingulate Gyrus	brain
39	chr21:47971000-47989200	Strong transcription	Placenta	Placenta
40	chr21:47971600-47991600	Strong transcription	Brain Substantia Nigra	brain
41	chr21:47972000-47988800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr21:47973200-47993000	Strong transcription	Duodenum Mucosa	Duodenum
43	chr21:47973400-47993200	Strong transcription	Rectal Smooth Muscle	rectum
44	chr21:47973600-47989600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr21:47973600-47990600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr21:47973600-47991600	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr21:47973600-47992600	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr21:47973800-47983200	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr21:47973800-47984200	Strong transcription	Brain Angular Gyrus	brain
50	chr21:47973800-47990600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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