Variant report

Variant	nsv899568
Chromosome Location	chr12:122254713-122456524
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5075)
CpG islands
(count:5561)
Chromatin interactive
region (count:269)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:9)

(count:5075 , 50 per page) page: 1 2 3 4 5 6 7 ... 102

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:122295171-122295680	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:122296705-122297646	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:122314183-122314721	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:122325816-122326760	HepG2	liver:	n/a	n/a
5	ARID3A	chr12:122330711-122331288	K562	blood:	n/a	n/a
6	ARID3A	chr12:122326929-122327344	K562	blood:	n/a	n/a
7	ARID3A	chr12:122277309-122277507	K562	blood:	n/a	n/a
8	ARID3A	chr12:122326143-122326708	K562	blood:	n/a	n/a
9	ARID3A	chr12:122337141-122337242	K562	blood:	n/a	n/a
10	ARID3A	chr12:122298083-122298452	HepG2	liver:	n/a	n/a
11	ATF1	chr12:122371725-122372366	K562	blood:	n/a	n/a
12	ATF1	chr12:122326182-122327290	K562	blood:	n/a	n/a
13	ATF1	chr12:122330991-122331538	K562	blood:	n/a	n/a
14	ATF2	chr12:122326236-122327362	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr12:122326165-122327474	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr12:122365270-122365774	GM12878	blood:	n/a	n/a
17	ATF2	chr12:122428955-122429589	GM12878	blood:	n/a	n/a
18	ATF2	chr12:122362561-122362999	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF2	chr12:122356073-122356620	H1-hESC	embryonic stem cell:	n/a	n/a
20	ATF2	chr12:122362536-122362988	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF2	chr12:122418175-122418737	GM12878	blood:	n/a	n/a
22	ATF2	chr12:122356087-122356586	GM12878	blood:	n/a	n/a
23	ATF2	chr12:122350161-122350512	GM12878	blood:	n/a	n/a
24	ATF2	chr12:122326257-122327125	GM12878	blood:	n/a	n/a
25	ATF2	chr12:122429940-122430453	GM12878	blood:	n/a	n/a
26	ATF2	chr12:122326154-122327234	GM12878	blood:	n/a	n/a
27	ATF2	chr12:122429897-122430524	GM12878	blood:	n/a	n/a
28	ATF2	chr12:122428625-122429608	GM12878	blood:	n/a	n/a
29	ATF2	chr12:122442225-122442556	GM12878	blood:	n/a	n/a
30	ATF2	chr12:122417962-122418888	GM12878	blood:	n/a	n/a
31	ATF2	chr12:122297203-122297537	H1-hESC	embryonic stem cell:	n/a	n/a
32	ATF2	chr12:122297148-122297578	H1-hESC	embryonic stem cell:	n/a	n/a
33	ATF3	chr12:122326241-122327197	A549	lung:	n/a	chr12:122326934-122326942
34	ATF3	chr12:122371684-122371983	K562	blood:	n/a	n/a
35	ATF3	chr12:122356143-122356638	GM12878	blood:	n/a	chr12:122356408-122356428
36	ATF3	chr12:122326022-122326791	K562	blood:	n/a	n/a
37	ATF3	chr12:122371642-122372089	K562	blood:	n/a	n/a
38	ATF3	chr12:122326323-122326679	HepG2	liver:	n/a	n/a
39	ATF3	chr12:122297044-122297555	A549	lung:	n/a	n/a
40	ATF3	chr12:122362523-122362919	A549	lung:	n/a	n/a
41	ATF3	chr12:122356127-122356533	H1-hESC	embryonic stem cell:	n/a	chr12:122356408-122356428
42	ATF3	chr12:122356298-122356490	GM12878	blood:	n/a	chr12:122356408-122356428
43	ATF3	chr12:122356143-122356633	H1-hESC	embryonic stem cell:	n/a	chr12:122356408-122356428
44	ATF3	chr12:122326034-122326973	A549	lung:	n/a	chr12:122326934-122326942
45	ATF3	chr12:122297236-122297495	HepG2	liver:	n/a	n/a
46	ATF3	chr12:122326325-122326743	H1-hESC	embryonic stem cell:	n/a	n/a
47	ATF3	chr12:122326335-122326708	K562	blood:	n/a	n/a
48	BACH1	chr12:122277212-122278008	H1-hESC	embryonic stem cell:	n/a	n/a
49	BACH1	chr12:122418887-122419052	H1-hESC	embryonic stem cell:	n/a	n/a
50	BACH1	chr12:122371790-122372522	K562	blood:	n/a	chr12:122371829-122371843

(count:5561 , 50 per page) page: 1 2 3 4 5 6 7 ... 112

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:122265088-122265138	NT2-D1	testis:	n/a
2	chr12:122372131-122372181	BE2_C	brain:	n/a
3	chr12:122261828-122261878	PANC-1	pancreas:	n/a
4	chr12:122260498-122260548	CMK	blood:	n/a
5	chr12:122261552-122261602	T-47D	breast:	n/a
6	chr12:122254908-122254958	K562	blood:	n/a
7	chr12:122255755-122255805	HIPEpiC	eye:	n/a
8	chr12:122265088-122265138	T-47D	breast:	n/a
9	chr12:122269675-122269725	MCF-7	breast:	n/a
10	chr12:122255456-122255506	HL-60	blood:	n/a
11	chr12:122265088-122265138	NT2-D1	testis:	n/a
12	chr12:122372131-122372181	BE2_C	brain:	n/a
13	chr12:122261828-122261878	PANC-1	pancreas:	n/a
14	chr12:122260498-122260548	CMK	blood:	n/a
15	chr12:122261552-122261602	T-47D	breast:	n/a
16	chr12:122254908-122254958	K562	blood:	n/a
17	chr12:122255755-122255805	HIPEpiC	eye:	n/a
18	chr12:122265088-122265138	T-47D	breast:	n/a
19	chr12:122269675-122269725	MCF-7	breast:	n/a
20	chr12:122255456-122255506	HL-60	blood:	n/a
21	chr12:122326584-122326634	NHBE	bronchial:	n/a
22	chr12:122442379-122442429	HIPEpiC	eye:	n/a
23	chr12:122330195-122330245	ProgFib	skin:	n/a
24	chr12:122281432-122281482	HMEC	breast:	n/a
25	chr12:122255002-122255052	NHBE	bronchial:	n/a
26	chr12:122261097-122261147	AG09319	gingival:	n/a
27	chr12:122396677-122396727	NHDF-neo	bronchial:	n/a
28	chr12:122444621-122444671	SK-N-MC	brain:	n/a
29	chr12:122255456-122255506	HCF	heart:	n/a
30	chr12:122432338-122432388	H1-hESC	embryonic stem cell:	embryo
31	chr12:122332665-122332715	PrEC	prostate:	n/a
32	chr12:122269184-122269234	NT2-D1	testis:	n/a
33	chr12:122428377-122428427	AoSMC	blood vessel:	n/a
34	chr12:122356316-122356366	HRPEpiC	eye:	n/a
35	chr12:122266596-122266646	SK-N-SH_RA	brain:	n/a
36	chr12:122261552-122261602	H1-hESC	embryonic stem cell:	embryo
37	chr12:122326549-122326599	HCT-116	colon:	n/a
38	chr12:122396687-122396737	NHBE	bronchial:	n/a
39	chr12:122297408-122297458	NT2-D1	testis:	n/a
40	chr12:122268654-122268704	GM12878	blood:	n/a
41	chr12:122355842-122355892	HEK293	kidney:	embryo
42	chr12:122268629-122268679	GM12891	blood:	n/a
43	chr12:122261097-122261147	AG09309	skin:	n/a
44	chr12:122268629-122268679	AG09309	skin:	n/a
45	chr12:122277360-122277410	NHBE	bronchial:	n/a
46	chr12:122326393-122326443	PrEC	prostate:	n/a
47	chr12:122330195-122330245	T-47D	breast:	n/a
48	chr12:122296680-122296730	HIPEpiC	eye:	n/a
49	chr12:122257644-122257694	AG10803	skin:	n/a
50	chr12:122356316-122356366	HCPEpiC	choroid plexus:	n/a

(count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Distal block	Cell Line	Cell type
1	chr12:122355684..122357967-chr12:122369270..122371880,2	K562	blood:
2	chr12:122284827..122287337-chr12:122291001..122292909,2	MCF-7	breast:
3	chr12:122145250..122147577-chr12:122276156..122278348,3	K562	blood:
4	chr12:122233788..122236172-chr12:122398855..122400644,2	MCF-7	breast:
5	chr12:122270244..122271773-chr12:122272633..122275572,2	K562	blood:
6	chr12:122263316..122269840-chr12:122275192..122277563,9	K562	blood:
7	chr12:122355691..122357856-chr12:122357924..122360707,2	MCF-7	breast:
8	chr12:122254792..122256500-chr12:122324341..122327043,2	MCF-7	breast:
9	chr12:122395836..122398173-chr12:122399346..122401443,3	MCF-7	breast:
10	chr12:122356506..122358944-chr12:122464672..122467378,2	MCF-7	breast:
11	chr12:122427530..122430747-chr12:122431781..122435522,3	MCF-7	breast:
12	chr12:122231775..122233087-chr12:122326346..122327350,5	MCF-7	breast:
13	chr12:122366441..122369045-chr12:122369875..122372050,2	K562	blood:
14	chr12:122355691..122357856-chr12:122357924..122360707,2	MCF-7	breast:
15	chr12:122259672..122261215-chr12:122262600..122265504,2	MCF-7	breast:
16	chr12:122393339..122394256-chr12:122469215..122470133,3	MCF-7	breast:
17	chr12:122231441..122233928-chr12:122277608..122279379,2	K562	blood:
18	chr12:122302034..122304399-chr12:122306279..122308063,2	K562	blood:
19	chr12:122377347..122378938-chr12:122380678..122382509,2	MCF-7	breast:
20	chr12:122444926..122447764-chr12:122458397..122461144,2	K562	blood:
21	chr12:122429414..122431335-chr12:122431461..122433062,2	MCF-7	breast:
22	chr12:122263314..122265350-chr12:122325575..122328455,3	MCF-7	breast:
23	chr12:122255928..122260265-chr12:122261621..122265841,4	K562	blood:
24	chr12:122440832..122442485-chr12:122443851..122445815,2	K562	blood:
25	chr12:122236505..122239479-chr12:122304789..122306733,2	K562	blood:
26	chr12:122263316..122269840-chr12:122275192..122277563,9	K562	blood:
27	chr12:122063686..122066969-chr12:122326410..122329127,3	K562	blood:
28	chr12:122277629..122280241-chr12:122306316..122307836,2	K562	blood:
29	chr12:122369123..122373485-chr12:122458454..122462950,5	K562	blood:
30	chr12:122214009..122214701-chr12:122332315..122333181,2	MCF-7	breast:
31	chr12:122403424..122405095-chr12:122408699..122410870,2	K562	blood:
32	chr12:122385316..122388171-chr12:122391826..122394372,2	MCF-7	breast:
33	chr12:122313122..122314664-chr12:122320554..122322412,2	K562	blood:
34	chr12:122257311..122259605-chr12:122263406..122267409,4	MCF-7	breast:
35	chr12:122231564..122242843-chr12:122324518..122333366,33	K562	blood:
36	chr12:122302034..122304399-chr12:122306279..122308063,2	K562	blood:
37	chr12:122277581..122279588-chr12:122359904..122362557,2	K562	blood:
38	chr12:122415297..122419092-chr12:122458561..122460890,4	MCF-7	breast:
39	chr12:122393592..122395779-chr12:122400656..122403431,2	MCF-7	breast:
40	chr12:122306240..122308217-chr12:122309790..122311950,3	K562	blood:
41	chr12:122392019..122395422-chr12:122459047..122461618,4	MCF-7	breast:
42	chr12:122383104..122386002-chr12:122399746..122401502,2	K562	blood:
43	chr12:122399815..122401399-chr12:122459120..122461080,2	MCF-7	breast:
44	chr12:122250365..122256158-chr12:122324216..122328328,5	MCF-7	breast:
45	chr12:122232014..122232997-chr12:122276967..122277944,2	K562	blood:
46	chr12:122383104..122386002-chr12:122399746..122401502,2	K562	blood:
47	chr12:122450614..122453245-chr12:122454645..122456321,2	K562	blood:
48	chr12:122240928..122242947-chr12:122294701..122297543,2	MCF-7	breast:
49	chr12:122277494..122279304-chr12:122281491..122283464,2	K562	blood:
50	chr12:122325518..122327854-chr12:122516363..122518486,3	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BCL7A-3	chr12:122416025-122416306	l_748_chr12:122413669-122416306_testes
2	lnc-HPD-2	chr12:122445340-122445840	ENSG00000255856
3	lnc-WDR66-2	chr12:122447660-122448157	NONHSAT031481
4	lnc-BCL7A-3	chr12:122413670-122415137	l_748_chr12:122413669-122416306_testes
5	lnc-BCL7A-2	chr12:122454089-122454336	NONHSAT031482
6	lnc-BCL7A-3	chr12:122415201-122415244	l_748_chr12:122413669-122416306_testes
7	lnc-BCL7A-3	chr12:122415445-122415636	l_748_chr12:122413669-122416306_testes

No data

(count:9 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	SETD1B	hsa-miR-92a-3p	chr12:122270236-122270242
2	SETD1B	hsa-miR-103a-3p	chr12:122268485-122268506
3	SETD1B	hsa-miR-16-5p	chr12:122268486-122268507
4	SETD1B	hsa-miR-16-5p	chr12:122268500-122268507
5	PSMD9	hsa-miR-148a-3p	chr12:122354674-122354692
6	SETD1B	hsa-miR-103a-3p	chr12:122268499-122268505
7	PSMD9	hsa-miR-19b-3p	chr12:122354668-122354690
8	PSMD9	hsa-miR-130b-3p	chr12:122354670-122354691
9	SETD1B	hsa-miR-25-3p	chr12:122270236-122270242

Variant related genes	Relation type
ENSG00000256811	TF binding region
RNU7-170P	TF binding region
PSMD9	TF binding region
BCL7A	TF binding region
HPD	TF binding region
ENSG00000256950	TF binding region
WDR66	TF binding region
ENSG00000256811	CpG island
RNU7-170P	CpG island
PSMD9	CpG island
BCL7A	CpG island
HPD	CpG island
ENSG00000256950	CpG island
WDR66	CpG island
ENSG00000110801	chromatin interactions
ENSG00000182500	chromatin interactions
ENSG00000139725	chromatin interactions
ENSG00000255856	chromatin interactions
ENSG00000206652	chromatin interactions
ENSG00000170759	chromatin interactions
ENSG00000175727	chromatin interactions
ENSG00000256950	chromatin interactions
ENSG00000176383	chromatin interactions
ENSG00000188735	chromatin interactions
ENSG00000158023	chromatin interactions
ENSG00000239082	chromatin interactions
ENSG00000272849	chromatin interactions
ENSG00000110987	chromatin interactions
ENSG00000184047	chromatin interactions
ENSG00000256811	chromatin interactions
ENSG00000212694	chromatin interactions
ENSG00000158104	chromatin interactions
ENSG00000139718	chromatin interactions

Extended variants
information (count: 8138 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:8138 , 50 per page) page: 1 2 3 4 5 6 7 ... 163

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7974348	chr12:122254713-122254714	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs372993030	chr12:122254730-122254731	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs555171193	chr12:122254731-122254732	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs558413073	chr12:122254762-122254763	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs576803044	chr12:122254763-122254764	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs186688340	chr12:122254772-122254773	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs562096126	chr12:122254778-122254779	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs574201094	chr12:122254833-122254834	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs375883193	chr12:122254878-122254879	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs541488048	chr12:122254900-122254901	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs560120726	chr12:122254908-122254909	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs527468463	chr12:122254915-122254916	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs369993612	chr12:122254930-122254931	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs552232306	chr12:122254933-122254934	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs371806440	chr12:122254953-122254954	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs564404263	chr12:122254965-122254966	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs540878104	chr12:122254977-122254978	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs375276520	chr12:122254983-122254984	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs550208198	chr12:122254988-122254989	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs369609061	chr12:122254989-122254990	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs568429841	chr12:122255022-122255023	Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs151217970	chr12:122255040-122255041	Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs367913171	chr12:122255084-122255085	Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs547890838	chr12:122255096-122255097	Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs566175997	chr12:122255115-122255116	Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs191488950	chr12:122255151-122255152	Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs368741660	chr12:122255204-122255205	Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs558212175	chr12:122255235-122255236	Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs570330893	chr12:122255285-122255286	Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs374547458	chr12:122255297-122255298	Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs555754128	chr12:122255319-122255320	Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs541427059	chr12:122255355-122255356	Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs199987652	chr12:122255372-122255373	Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs370992202	chr12:122255432-122255433	Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs574075717	chr12:122255433-122255434	Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs374996014	chr12:122255445-122255446	Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs541562313	chr12:122255448-122255449	Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs562261248	chr12:122255470-122255471	Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs553823417	chr12:122255472-122255473	Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs376443210	chr12:122255475-122255476	Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs376732753	chr12:122255494-122255495	Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs149930821	chr12:122255501-122255502	Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs183976176	chr12:122255520-122255521	Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs531654943	chr12:122255523-122255524	Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs71079098	chr12:122255537-122255538	Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs543713948	chr12:122255671-122255672	Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs78194112	chr12:122255675-122255676	Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs370880653	chr12:122255719-122255720	Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs373918253	chr12:122255720-122255721	Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs115711780	chr12:122255755-122255756	Strong transcription Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian cancer	21781307	CNVD
Autism	21865298	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:5362 , 50 per page) page: 1 2 3 4 5 6 7 ... 108

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122250800-122254800	Weak transcription	Psoas Muscle	Psoas
2	chr12:122250800-122270200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:122250800-122270400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:122250800-122277200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:122251000-122270200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:122251000-122270400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:122251200-122256400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:122251200-122262000	Strong transcription	GM12878-XiMat	blood
9	chr12:122251200-122266800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:122251200-122270600	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr12:122251200-122277000	Weak transcription	Right Atrium	heart
12	chr12:122251400-122255000	Genic enhancers	Fetal Thymus	thymus
13	chr12:122251400-122255000	Weak transcription	Small Intestine	intestine
14	chr12:122251400-122256400	Strong transcription	Brain Substantia Nigra	brain
15	chr12:122251400-122259200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:122251400-122262800	Strong transcription	NH-A	brain
17	chr12:122251400-122263000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:122251400-122263000	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr12:122251400-122266600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:122251400-122270400	Strong transcription	Fetal Muscle Trunk	muscle
21	chr12:122251600-122256200	Strong transcription	HSMM	muscle
22	chr12:122251600-122256200	Strong transcription	K562	blood
23	chr12:122251600-122258400	Strong transcription	Brain Angular Gyrus	brain
24	chr12:122251600-122259000	Strong transcription	Aorta	Aorta
25	chr12:122251600-122259000	Strong transcription	Colonic Mucosa	Colon
26	chr12:122251600-122262200	Strong transcription	Rectal Smooth Muscle	rectum
27	chr12:122251600-122263200	Strong transcription	Brain Anterior Caudate	brain
28	chr12:122251600-122266200	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr12:122251600-122268800	Strong transcription	Primary T cells from cord blood	blood
30	chr12:122251600-122270400	Strong transcription	Brain Inferior Temporal Lobe	brain
31	chr12:122251600-122270400	Strong transcription	NHLF	lung
32	chr12:122251600-122270400	Strong transcription	Osteobl	bone
33	chr12:122251600-122270800	Strong transcription	Fetal Muscle Leg	muscle
34	chr12:122251600-122270800	Strong transcription	Fetal Stomach	stomach
35	chr12:122251800-122256400	Strong transcription	Lung	lung
36	chr12:122251800-122262200	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr12:122251800-122262200	Strong transcription	Stomach Smooth Muscle	stomach
38	chr12:122251800-122262400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:122251800-122262400	Strong transcription	A549	lung
40	chr12:122251800-122262800	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr12:122251800-122262800	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr12:122251800-122266400	Strong transcription	Brain Germinal Matrix	brain
43	chr12:122251800-122270200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr12:122251800-122270200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:122251800-122270400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:122251800-122270400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr12:122251800-122270400	Strong transcription	Fetal Brain Female	brain
48	chr12:122251800-122270400	Strong transcription	Fetal Intestine Large	intestine
49	chr12:122251800-122270400	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr12:122251800-122270600	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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