Variant report

Variant	nsv1010936
Chromosome Location	chr2:234549011-234640221
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1113)
CpG islands
(count:2260)
Chromatin interactive
region (count:85)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1113 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:234608863-234609197	K562	blood:	n/a	n/a
2	ARID3A	chr2:234620172-234620370	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:234603625-234603742	HepG2	liver:	n/a	n/a
4	ATF1	chr2:234570651-234570703	K562	blood:	n/a	n/a
5	ATF3	chr2:234608133-234609294	A549	lung:	n/a	n/a
6	ATF3	chr2:234608391-234609239	A549	lung:	n/a	n/a
7	ATF3	chr2:234616457-234617245	A549	lung:	n/a	n/a
8	BACH1	chr2:234608727-234609139	K562	blood:	n/a	n/a
9	BACH1	chr2:234608331-234609261	H1-hESC	embryonic stem cell:	n/a	n/a
10	BATF	chr2:234565000-234565520	GM12878	blood:	n/a	n/a
11	BATF	chr2:234565000-234565385	GM12878	blood:	n/a	n/a
12	BCL11A	chr2:234565052-234565391	GM12878	blood:	n/a	n/a
13	BCL11A	chr2:234565119-234565303	GM12878	blood:	n/a	n/a
14	BCL3	chr2:234579737-234579994	GM12878	blood:	n/a	n/a
15	BCL3	chr2:234584648-234585210	A549	lung:	n/a	n/a
16	BCL3	chr2:234608063-234609231	A549	lung:	n/a	n/a
17	BCL3	chr2:234619957-234620684	A549	lung:	n/a	chr2:234620657-234620664 chr2:234620407-234620416
18	BCL3	chr2:234607994-234609420	A549	lung:	n/a	n/a
19	BCL3	chr2:234577236-234577886	A549	lung:	n/a	n/a
20	BCL3	chr2:234616263-234617452	A549	lung:	n/a	n/a
21	BHLHE40	chr2:234608778-234609176	K562	blood:	n/a	n/a
22	BHLHE40	chr2:234620123-234620290	K562	blood:	n/a	n/a
23	BHLHE40	chr2:234620203-234620396	GM12878	blood:	n/a	n/a
24	BRCA1	chr2:234620132-234620425	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr2:234620215-234620235	HepG2	liver:	n/a	n/a
26	BRCA1	chr2:234615669-234615865	Hela-S3	cervix:	n/a	n/a
27	CCNT2	chr2:234608769-234609214	K562	blood:	n/a	n/a
28	CEBPB	chr2:234629363-234629630	K562	blood:	n/a	n/a
29	CEBPB	chr2:234615391-234615781	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr2:234629368-234629688	A549	lung:	n/a	n/a
31	CEBPB	chr2:234629311-234629877	A549	lung:	n/a	chr2:234629859-234629872
32	CEBPB	chr2:234577256-234577747	A549	lung:	n/a	n/a
33	CEBPB	chr2:234639642-234639778	HepG2	liver:	n/a	n/a
34	CEBPB	chr2:234628602-234628886	IMR90	lung:	n/a	n/a
35	CEBPB	chr2:234639004-234639011	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPB	chr2:234629371-234629739	HepG2	liver:	n/a	n/a
37	CEBPB	chr2:234608270-234609369	A549	lung:	n/a	n/a
38	CEBPB	chr2:234624956-234625086	HepG2	liver:	n/a	n/a
39	CEBPB	chr2:234590167-234590485	Hela-S3	cervix:	n/a	chr2:234590292-234590305 chr2:234590292-234590303
40	CEBPB	chr2:234608393-234609352	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr2:234608704-234609319	MCF-7	breast:	n/a	n/a
42	CEBPB	chr2:234614713-234615154	Hela-S3	cervix:	n/a	chr2:234614907-234614918 chr2:234614905-234614916
43	CEBPB	chr2:234629404-234629738	IMR90	lung:	n/a	n/a
44	CEBPB	chr2:234628666-234628788	K562	blood:	n/a	n/a
45	CEBPB	chr2:234608833-234609272	K562	blood:	n/a	n/a
46	CEBPB	chr2:234616597-234617345	Hela-S3	cervix:	n/a	n/a
47	CEBPB	chr2:234590215-234590473	A549	lung:	n/a	chr2:234590292-234590305 chr2:234590292-234590303
48	CEBPB	chr2:234590183-234590481	A549	lung:	n/a	chr2:234590292-234590305 chr2:234590292-234590303
49	CEBPB	chr2:234614615-234615264	MCF-7	breast:	n/a	chr2:234614907-234614918 chr2:234614905-234614916
50	CEBPB	chr2:234608782-234609193	MCF-7	breast:	n/a	n/a

(count:2260 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:234608369-234608419	HIPEpiC	eye:	n/a
2	chr2:234590590-234590640	PFSK-1	brain:	n/a
3	chr2:234621621-234621671	HIPEpiC	eye:	n/a
4	chr2:234608369-234608419	HIPEpiC	eye:	n/a
5	chr2:234590590-234590640	PFSK-1	brain:	n/a
6	chr2:234621621-234621671	HIPEpiC	eye:	n/a
7	chr2:234590865-234590915	GM12878	blood:	n/a
8	chr2:234620385-234620435	Hepatocyte	liver:	n/a
9	chr2:234637253-234637303	HAEpiC	amniotic membrane:	n/a
10	chr2:234637574-234637624	NB4	blood:	n/a
11	chr2:234590590-234590640	HCM	heart:	n/a
12	chr2:234590865-234590915	ovcar-3	ovarian:	n/a
13	chr2:234579873-234579923	Hela-S3	cervix:	n/a
14	chr2:234620385-234620435	AG10803	skin:	n/a
15	chr2:234579873-234579923	NHDF-neo	bronchial:	n/a
16	chr2:234621621-234621671	SK-N-SH_RA	brain:	n/a
17	chr2:234627262-234627312	AG09309	skin:	n/a
18	chr2:234637253-234637303	PrEC	prostate:	n/a
19	chr2:234600147-234600197	HUVEC	blood vessel:	n/a
20	chr2:234590865-234590915	ProgFib	skin:	n/a
21	chr2:234589374-234589424	CMK	blood:	n/a
22	chr2:234621572-234621622	HCF	heart:	n/a
23	chr2:234637306-234637356	HRE	kidney:	n/a
24	chr2:234599026-234599076	HEK293	kidney:	embryo
25	chr2:234601443-234601493	HMEC	breast:	n/a
26	chr2:234590590-234590640	HAEpiC	amniotic membrane:	n/a
27	chr2:234579873-234579923	GM19239	blood:	n/a
28	chr2:234637306-234637356	NHDF-neo	bronchial:	n/a
29	chr2:234637574-234637624	BJ	skin:	n/a
30	chr2:234620385-234620435	BJ	skin:	n/a
31	chr2:234599026-234599076	SK-N-SH_RA	brain:	n/a
32	chr2:234626351-234626401	HAEpiC	amniotic membrane:	n/a
33	chr2:234637306-234637356	HepG2	liver:	n/a
34	chr2:234601443-234601493	HRPEpiC	eye:	n/a
35	chr2:234590865-234590915	H1-hESC	embryonic stem cell:	embryo
36	chr2:234626084-234626134	MCF10A-Er-Src	breast:	n/a
37	chr2:234627401-234627451	NHBE	bronchial:	n/a
38	chr2:234601254-234601304	ovcar-3	ovarian:	n/a
39	chr2:234600423-234600473	HepG2	liver:	n/a
40	chr2:234589374-234589424	Hepatocyte	liver:	n/a
41	chr2:234620463-234620513	GM19239	blood:	n/a
42	chr2:234620154-234620204	K562	blood:	n/a
43	chr2:234620385-234620435	GM12878	blood:	n/a
44	chr2:234608369-234608419	Hepatocyte	liver:	n/a
45	chr2:234601954-234602004	HEEpiC	esophagus:	n/a
46	chr2:234627401-234627451	NB4	blood:	n/a
47	chr2:234626084-234626134	Hepatocyte	liver:	n/a
48	chr2:234622113-234622163	NT2-D1	testis:	n/a
49	chr2:234621621-234621671	HCM	heart:	n/a
50	chr2:234627450-234627500	AoSMC	blood vessel:	n/a

(count:85 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	2:234635414-234639782..2:234772667-234780240	Hela-S3	cervix:
2	chr2:234599124..234606471-chr2:234613478..234621007,17	MCF-7	breast:
3	chr2:234448748..234450538-chr2:234553700..234555671,2	K562	blood:
4	chr2:234395274..234395960-chr2:234608595..234609417,2	MCF-7	breast:
5	chr2:234388753..234400184-chr2:234596527..234603213,35	MCF-7	breast:
6	chr2:234597435..234606028-chr2:234613419..234620116,22	MCF-7	breast:
7	chr2:234393470..234398510-chr2:234607909..234611299,6	MCF-7	breast:
8	chr2:234386983..234399433-chr2:234613282..234621553,23	MCF-7	breast:
9	chr2:234557472..234561426-chr2:234563315..234566249,3	K562	blood:
10	chr2:234472037..234477650-chr2:234599067..234602356,8	MCF-7	breast:
11	chr2:234400105..234405009-chr2:234616033..234619892,4	MCF-7	breast:
12	chr2:234597435..234606028-chr2:234613419..234620116,22	MCF-7	breast:
13	chr15:50714595..50716933-chr2:234599004..234601578,2	MCF-7	breast:
14	chr2:234613252..234614909-chr2:234617932..234620320,3	MCF-7	breast:
15	chr2:234473821..234476593-chr2:234593192..234596119,2	MCF-7	breast:
16	chr2:234616675..234619386-chr2:234621500..234623443,3	MCF-7	breast:
17	chr2:234385869..234388276-chr2:234598352..234599952,2	MCF-7	breast:
18	chr2:234463184..234465142-chr2:234603277..234605983,2	MCF-7	breast:
19	chr2:234557472..234561426-chr2:234563315..234566249,3	K562	blood:
20	chr2:234614862..234617067-chr2:234739874..234742811,2	MCF-7	breast:
21	chr2:234637896..234640536-chr2:234645854..234647790,2	MCF-7	breast:
22	chr2:234606390..234610516-chr2:234613313..234618925,12	MCF-7	breast:
23	chr2:234559926..234563165-chr2:234564749..234566368,3	K562	blood:
24	chr2:234467119..234468871-chr2:234606248..234608879,2	MCF-7	breast:
25	chr2:234464216..234467169-chr2:234597494..234599447,2	MCF-7	breast:
26	chr2:234398388..234400630-chr2:234610958..234612928,2	MCF-7	breast:
27	chr2:234357834..234358362-chr2:234619860..234620685,2	MCF-7	breast:
28	chr2:234544581..234547100-chr2:234548174..234549799,2	MCF-7	breast:
29	chr2:234585462..234589750-chr2:234597767..234600526,3	MCF-7	breast:
30	chr2:234366581..234368147-chr2:234619420..234621425,2	MCF-7	breast:
31	chr2:234387197..234390730-chr2:234600088..234603557,3	MCF-7	breast:
32	chr2:234464967..234466988-chr2:234593051..234595705,2	MCF-7	breast:
33	chr2:234613458..234615590-chr2:234762717..234764318,2	MCF-7	breast:
34	chr2:234577799..234579592-chr2:234583305..234585773,2	K562	blood:
35	chr2:234606620..234610585-chr2:234612683..234620351,17	MCF-7	breast:
36	chr2:234591661..234593982-chr2:234613958..234615521,2	MCF-7	breast:
37	chr2:234474851..234476987-chr2:234608210..234610315,2	MCF-7	breast:
38	chr2:234473868..234476982-chr2:234602699..234604920,3	MCF-7	breast:
39	chr2:234607784..234610773-chr2:234739083..234742311,4	MCF-7	breast:
40	chr2:234393460..234398388-chr2:234612624..234620814,16	MCF-7	breast:
41	chr2:234613252..234614909-chr2:234617932..234620320,3	MCF-7	breast:
42	chr2:234604730..234606945-chr2:234609647..234612272,2	K562	blood:
43	2:234543708-234558325..2:234649753-234657866	Hela-S3	cervix:
44	chr2:234610804..234613588-chr2:234613696..234615763,4	MCF-7	breast:
45	chr2:234395612..234396510-chr2:234608589..234609593,3	MCF-7	breast:
46	chr2:234474009..234475510-chr2:234594502..234596848,2	MCF-7	breast:
47	chr2:234473282..234477495-chr2:234598048..234603332,9	MCF-7	breast:
48	2:234492023-234494396..2:234543708-234558325	GM12878	blood:
49	chr2:234355853..234357392-chr2:234601737..234604100,2	MCF-7	breast:
50	chr2:234474897..234476429-chr2:234612353..234614313,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HJURP-5	chr2:234630168-234630711	NONHSAT077506

No data

Variant related genes	Relation type
UGT1A13P	TF binding region
UGT1A7	TF binding region
UGT1A8	TF binding region
UGT1A6	TF binding region
UGT1A3	TF binding region
RPL17P11	TF binding region
UGT1A4	TF binding region
ENSG00000224814	TF binding region
UGT1A5	TF binding region
UGT1A9	TF binding region
UGT1A13P	CpG island
UGT1A7	CpG island
UGT1A8	CpG island
UGT1A6	CpG island
UGT1A3	CpG island
RPL17P11	CpG island
UGT1A4	CpG island
ENSG00000224814	CpG island
UGT1A5	CpG island
UGT1A9	CpG island
ENSG00000240224	chromatin interactions
ENSG00000228949	chromatin interactions
ENSG00000123485	chromatin interactions
ENSG00000241635	chromatin interactions
ENSG00000244122	chromatin interactions
ENSG00000167165	chromatin interactions
ENSG00000242515	chromatin interactions
ENSG00000185038	chromatin interactions
ENSG00000138592	chromatin interactions
ENSG00000077044	chromatin interactions
ENSG00000224287	chromatin interactions
ENSG00000224814	chromatin interactions
ENSG00000228445	chromatin interactions
ENSG00000248114	chromatin interactions
ENSG00000227802	chromatin interactions
ENSG00000241119	chromatin interactions
ENSG00000085982	chromatin interactions

Extended variants
information (count: 3954 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:3954 , 50 per page) page: 1 2 3 4 5 6 7 ... 80

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17862847	chr2:234549011-234549012	Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs568201531	chr2:234549037-234549038	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs570219885	chr2:234549141-234549142	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs537589093	chr2:234549165-234549166	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs28969691	chr2:234549226-234549227	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs186431624	chr2:234549236-234549237	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs533786260	chr2:234549253-234549254	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs553774643	chr2:234549421-234549422	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs577219991	chr2:234549424-234549425	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs539710641	chr2:234549465-234549466	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs556133341	chr2:234549471-234549472	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs576165573	chr2:234549486-234549487	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs28969977	chr2:234549549-234549550	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs28969978	chr2:234549582-234549583	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs572181643	chr2:234549584-234549585	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs547549613	chr2:234549625-234549626	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs139216611	chr2:234549649-234549650	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs372798135	chr2:234549655-234549656	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs533483735	chr2:234549668-234549669	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs550443751	chr2:234549694-234549695	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs563755706	chr2:234549698-234549699	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs34535028	chr2:234549753-234549754	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs578256346	chr2:234549769-234549770	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs149927393	chr2:234549821-234549822	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs529473236	chr2:234549861-234549862	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs28969979	chr2:234549914-234549915	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs190143348	chr2:234549943-234549944	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs568182571	chr2:234550006-234550007	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs10193089	chr2:234550017-234550018	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs185898618	chr2:234550021-234550022	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs537974224	chr2:234550080-234550081	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs28969980	chr2:234550098-234550099	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs375524092	chr2:234550198-234550199	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs184011634	chr2:234550201-234550202	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs576224662	chr2:234550206-234550207	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs535664733	chr2:234550208-234550209	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs113641140	chr2:234550246-234550247	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs112910737	chr2:234550258-234550259	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs188908446	chr2:234550262-234550263	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs557775735	chr2:234550362-234550363	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs28969981	chr2:234550393-234550394	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs147906024	chr2:234550431-234550432	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs75381408	chr2:234550449-234550450	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs529532046	chr2:234550475-234550476	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs543209152	chr2:234550500-234550501	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs572016752	chr2:234550503-234550504	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs28969982	chr2:234550535-234550536	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs540879180	chr2:234550539-234550540	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs547494268	chr2:234550551-234550552	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs564129949	chr2:234550555-234550556	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	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
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
prenatal diagnosis	22389664	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Chronic myeloid leukemia	21384125	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:501 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234547800-234554000	Weak transcription	Colonic Mucosa	Colon
2	chr2:234548200-234549400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:234549400-234550000	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr2:234549400-234550000	Enhancers	Stomach Mucosa	stomach
5	chr2:234550000-234551400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:234550000-234551400	Weak transcription	Stomach Mucosa	stomach
7	chr2:234551400-234551600	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr2:234551400-234551800	Enhancers	Stomach Mucosa	stomach
9	chr2:234551600-234551800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:234551600-234551800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:234551600-234551800	Enhancers	Esophagus	oesophagus
12	chr2:234551600-234553800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr2:234551800-234559200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:234552400-234552600	Enhancers	Esophagus	oesophagus
15	chr2:234553800-234554000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr2:234553800-234554600	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
17	chr2:234554000-234554800	ZNF genes & repeats	Colonic Mucosa	Colon
18	chr2:234554200-234555000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
19	chr2:234554600-234587800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr2:234555000-234559600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr2:234559000-234559600	Enhancers	NHEK	skin
22	chr2:234559000-234560400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:234559200-234560000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:234559200-234560000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:234559400-234559800	Enhancers	HMEC	breast
26	chr2:234559600-234559800	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr2:234559600-234560000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr2:234559600-234560000	Enhancers	A549	lung
29	chr2:234559600-234560000	Flanking Active TSS	NHEK	skin
30	chr2:234559800-234592800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr2:234560000-234560600	Enhancers	NHEK	skin
32	chr2:234563200-234563600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:234563200-234564200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:234563200-234564200	Enhancers	Duodenum Mucosa	Duodenum
35	chr2:234563200-234564200	Enhancers	Stomach Mucosa	stomach
36	chr2:234563800-234564200	Enhancers	Liver	Liver
37	chr2:234563800-234565200	Enhancers	GM12878-XiMat	blood
38	chr2:234564200-234565200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:234564200-234566800	Weak transcription	Liver	Liver
40	chr2:234565200-234565400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr2:234566800-234568400	Enhancers	Liver	Liver
42	chr2:234567000-234572000	Weak transcription	Colonic Mucosa	Colon
43	chr2:234568400-234569800	Weak transcription	Liver	Liver
44	chr2:234569800-234571400	Enhancers	Liver	Liver
45	chr2:234570000-234570600	Enhancers	A549	lung
46	chr2:234570600-234572400	Weak transcription	A549	lung
47	chr2:234577400-234578400	Enhancers	A549	lung
48	chr2:234577400-234579800	Enhancers	Liver	Liver
49	chr2:234579800-234580600	Flanking Active TSS	Liver	Liver
50	chr2:234579800-234580600	Enhancers	A549	lung

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