Variant report

Variant	esv3386327
Chromosome Location	chr12:51154734-51184232
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1645)
CpG islands
(count:978)
Chromatin interactive
region (count:79)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1645 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:51156120-51156335	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:51159669-51159699	K562	blood:	n/a	n/a
3	ARID3A	chr12:51182528-51182807	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:51180652-51181192	HepG2	liver:	n/a	n/a
5	ARID3A	chr12:51162351-51162842	K562	blood:	n/a	n/a
6	ARID3A	chr12:51157999-51158006	K562	blood:	n/a	n/a
7	ARID3A	chr12:51158351-51159306	HepG2	liver:	n/a	chr12:51159110-51159126
8	ARID3A	chr12:51158846-51159378	K562	blood:	n/a	chr12:51159110-51159126
9	ARID3A	chr12:51157520-51157977	HepG2	liver:	n/a	n/a
10	ATF1	chr12:51159068-51159679	K562	blood:	n/a	n/a
11	ATF1	chr12:51157546-51158067	K562	blood:	n/a	n/a
12	ATF2	chr12:51178655-51179022	GM12878	blood:	n/a	n/a
13	ATF2	chr12:51157347-51157811	GM12878	blood:	n/a	n/a
14	ATF2	chr12:51178727-51179007	GM12878	blood:	n/a	n/a
15	ATF2	chr12:51157568-51157887	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr12:51157429-51157894	GM12878	blood:	n/a	n/a
17	ATF2	chr12:51158044-51158550	GM12878	blood:	n/a	n/a
18	ATF3	chr12:51157441-51157943	A549	lung:	n/a	chr12:51157748-51157762
19	ATF3	chr12:51180450-51181064	A549	lung:	n/a	n/a
20	ATF3	chr12:51157520-51157810	H1-hESC	embryonic stem cell:	n/a	chr12:51157748-51157762
21	ATF3	chr12:51157548-51157803	HepG2	liver:	n/a	chr12:51157748-51157762
22	ATF3	chr12:51157472-51157811	H1-hESC	embryonic stem cell:	n/a	chr12:51157748-51157762
23	ATF3	chr12:51157432-51157947	A549	lung:	n/a	chr12:51157748-51157762
24	ATF3	chr12:51157563-51157814	K562	blood:	n/a	chr12:51157748-51157762
25	ATF3	chr12:51180381-51181139	A549	lung:	n/a	n/a
26	ATF3	chr12:51157640-51157808	GM12878	blood:	n/a	chr12:51157748-51157762
27	ATF3	chr12:51157471-51157968	HepG2	liver:	n/a	chr12:51157748-51157762 chr12:51157951-51157960
28	ATF3	chr12:51157525-51157817	GM12878	blood:	n/a	chr12:51157748-51157762
29	BACH1	chr12:51157544-51158423	H1-hESC	embryonic stem cell:	n/a	n/a
30	BATF	chr12:51178762-51178998	GM12878	blood:	n/a	n/a
31	BATF	chr12:51157590-51157849	GM12878	blood:	n/a	n/a
32	BATF	chr12:51171142-51171377	GM12878	blood:	n/a	n/a
33	BATF	chr12:51178737-51179041	GM12878	blood:	n/a	n/a
34	BCL11A	chr12:51178739-51178965	GM12878	blood:	n/a	n/a
35	BCL3	chr12:51158438-51159230	A549	lung:	n/a	chr12:51158450-51158463
36	BCL3	chr12:51180387-51181245	A549	lung:	n/a	n/a
37	BCL3	chr12:51180368-51181264	A549	lung:	n/a	n/a
38	BCL3	chr12:51157288-51158017	A549	lung:	n/a	chr12:51157620-51157628
39	BCLAF1	chr12:51158918-51159421	GM12878	blood:	n/a	n/a
40	BCLAF1	chr12:51157317-51157948	GM12878	blood:	n/a	chr12:51157620-51157628
41	BCLAF1	chr12:51158103-51158699	GM12878	blood:	n/a	chr12:51158252-51158261 chr12:51158450-51158463 chr12:51158261-51158270
42	BCLAF1	chr12:51157422-51158095	GM12878	blood:	n/a	chr12:51157620-51157628
43	BHLHE40	chr12:51157464-51159370	K562	blood:	n/a	chr12:51159231-51159247
44	BHLHE40	chr12:51157405-51158665	GM12878	blood:	n/a	n/a
45	BHLHE40	chr12:51157355-51158970	HepG2	liver:	n/a	n/a
46	BHLHE40	chr12:51155993-51156448	K562	blood:	n/a	n/a
47	BHLHE40	chr12:51162663-51162732	K562	blood:	n/a	n/a
48	BHLHE40	chr12:51159026-51159379	GM12878	blood:	n/a	chr12:51159231-51159247
49	BHLHE40	chr12:51178843-51178886	GM12878	blood:	n/a	n/a
50	BRCA1	chr12:51167572-51167822	Hela-S3	cervix:	n/a	n/a

(count:978 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:51157954-51158004	U87	brain:	n/a
2	chr12:51157023-51157073	AoSMC	blood vessel:	n/a
3	chr12:51157954-51158004	U87	brain:	n/a
4	chr12:51157023-51157073	AoSMC	blood vessel:	n/a
5	chr12:51157559-51157609	Jurkat	blood:	n/a
6	chr12:51157638-51157688	PFSK-1	brain:	n/a
7	chr12:51157772-51157822	IMR90	lung:	fetal
8	chr12:51178930-51178980	AG04450	lung:	fetal
9	chr12:51157023-51157073	AG09319	gingival:	n/a
10	chr12:51158439-51158489	HCF	heart:	n/a
11	chr12:51158663-51158713	CMK	blood:	n/a
12	chr12:51157683-51157733	K562	blood:	n/a
13	chr12:51157023-51157073	NHDF-neo	bronchial:	n/a
14	chr12:51180192-51180242	ECC-1	luminal epithelium:	n/a
15	chr12:51157716-51157766	HEEpiC	esophagus:	n/a
16	chr12:51157716-51157766	HRPEpiC	eye:	n/a
17	chr12:51157776-51157826	HRCEpiC	kidney:	n/a
18	chr12:51158439-51158489	HUVEC	blood vessel:	n/a
19	chr12:51157550-51157600	HEK293	kidney:	embryo
20	chr12:51157023-51157073	T-47D	breast:	n/a
21	chr12:51157638-51157688	NH-A	brain:	n/a
22	chr12:51157550-51157600	NHDF-neo	bronchial:	n/a
23	chr12:51157716-51157766	AG04449	skin:	fetal
24	chr12:51158946-51158996	AG04450	lung:	fetal
25	chr12:51157023-51157073	SK-N-SH_RA	brain:	n/a
26	chr12:51157638-51157688	Jurkat	blood:	n/a
27	chr12:51157023-51157073	HRE	kidney:	n/a
28	chr12:51157776-51157826	NHBE	bronchial:	n/a
29	chr12:51157559-51157609	HCM	heart:	n/a
30	chr12:51157023-51157073	NB4	blood:	n/a
31	chr12:51158439-51158489	NH-A	brain:	n/a
32	chr12:51157772-51157822	ProgFib	skin:	n/a
33	chr12:51158663-51158713	GM06990	blood:	n/a
34	chr12:51158946-51158996	HUVEC	blood vessel:	n/a
35	chr12:51158439-51158489	LNCaP	prostate:	n/a
36	chr12:51157776-51157826	ovcar-3	ovarian:	n/a
37	chr12:51157683-51157733	HCF	heart:	n/a
38	chr12:51157638-51157688	U87	brain:	n/a
39	chr12:51180192-51180242	HMEC	breast:	n/a
40	chr12:51158439-51158489	NHDF-neo	bronchial:	n/a
41	chr12:51157954-51158004	HEK293	kidney:	embryo
42	chr12:51157559-51157609	K562	blood:	n/a
43	chr12:51157023-51157073	PANC-1	pancreas:	n/a
44	chr12:51178930-51178980	ovcar-3	ovarian:	n/a
45	chr12:51180192-51180242	AG10803	skin:	n/a
46	chr12:51180192-51180242	T-47D	breast:	n/a
47	chr12:51157550-51157600	HCPEpiC	choroid plexus:	n/a
48	chr12:51157638-51157688	HPAEpiC	pulmonary alveolar:	n/a
49	chr12:51178930-51178980	ECC-1	luminal epithelium:	n/a
50	chr12:51157954-51158004	SKMC	muscle:	n/a

(count:79 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:51158399..51160694-chr12:51565412..51567742,2	K562	blood:
2	chr12:51138761..51142670-chr12:51152791..51156201,3	K562	blood:
3	chr12:51156114..51160622-chr12:51418657..51421869,11	K562	blood:
4	chr12:51171915..51173515-chr12:51175788..51178254,2	MCF-7	breast:
5	chr12:50497524..50499290-chr12:51157685..51160627,2	MCF-7	breast:
6	chr12:51147055..51148695-chr12:51151932..51154875,2	K562	blood:
7	chr11:67777437..67778023-chr12:51157504..51158407,2	Hela-S3	cervix:
8	chr12:51156235..51160771-chr12:51163731..51171865,12	MCF-7	breast:
9	chr12:51135835..51138035-chr12:51156285..51158061,2	MCF-7	breast:
10	chr12:51156536..51158196-chr12:51316559..51318763,2	K562	blood:
11	chr12:51157750..51158421-chr8:103667480..103668288,2	Hela-S3	cervix:
12	chr12:51180221..51180749-chr7:5569779..5570454,2	Hela-S3	cervix:
13	chr12:51154877..51158479-chr12:51475248..51478841,3	K562	blood:
14	chr12:51155325..51162343-chr12:51172009..51182370,14	MCF-7	breast:
15	chr12:51154190..51156314-chr5:179049312..179052209,2	MCF-7	breast:
16	chr12:51167462..51169093-chr12:51179939..51182142,2	MCF-7	breast:
17	chr12:51156345..51159697-chr12:51418125..51424480,11	MCF-7	breast:
18	chr12:50684742..50686911-chr12:51184178..51187146,2	K562	blood:
19	chr12:51155993..51157542-chr12:51233838..51236379,2	MCF-7	breast:
20	chr12:51157488..51159323-chr12:51172823..51174505,2	K562	blood:
21	chr12:51155753..51160968-chr12:51475872..51478809,5	MCF-7	breast:
22	chr12:51157194..51157900-chr12:118541616..118542435,2	Hela-S3	cervix:
23	chr12:51171915..51173515-chr12:51175788..51178254,2	MCF-7	breast:
24	chr12:51177098..51179520-chr12:51179532..51182751,3	K562	blood:
25	chr12:51179438..51182295-chr12:51203599..51205649,2	MCF-7	breast:
26	chr12:51156141..51159167-chr12:51172067..51175180,3	MCF-7	breast:
27	chr12:51168355..51171180-chr12:51178440..51181054,2	K562	blood:
28	chr12:51158682..51159758-chr12:51380494..51381376,3	MCF-7	breast:
29	chr11:64878931..64879673-chr12:51157386..51158326,2	NB4	blood:
30	chr12:51157187..51158117-chr19:19496545..19497370,2	NB4	blood:
31	chr12:51160285..51163042-chr12:51178907..51180859,2	MCF-7	breast:
32	chr12:51157779..51158529-chr17:49021485..49022127,3	Hela-S3	cervix:
33	chr12:50898290..50900177-chr12:51158500..51160466,2	MCF-7	breast:
34	chr12:51168132..51169844-chr12:51406411..51408266,2	MCF-7	breast:
35	chr12:51159439..51159963-chr12:51419339..51419854,2	MCF-7	breast:
36	chr12:51156398..51158646-chr12:51422122..51423732,2	MCF-7	breast:
37	chr12:51157277..51157789-chr9:75766629..75767511,2	Hela-S3	cervix:
38	chr12:50793597..50795392-chr12:51156771..51159161,2	MCF-7	breast:
39	chr12:50897453..50902823-chr12:51156009..51160960,8	MCF-7	breast:
40	chr12:51169144..51170647-chr12:51172407..51174153,2	MCF-7	breast:
41	chr12:51157529..51159205-chr6:26158256..26159760,2	MCF-7	breast:
42	chr12:51156412..51159922-chr12:51179248..51181916,4	MCF-7	breast:
43	chr12:51158475..51160420-chr12:51281763..51283394,2	K562	blood:
44	chr12:51177098..51179722-chr12:51180352..51182751,3	K562	blood:
45	chr12:51156583..51159237-chr12:51477140..51478642,2	MCF-7	breast:
46	chr12:51168065..51169805-chr12:51419046..51421840,2	K562	blood:
47	chr12:51177098..51179520-chr12:51179532..51182751,3	K562	blood:
48	chr12:51150985..51152690-chr12:51154606..51156360,3	K562	blood:
49	chr12:51155941..51160401-chr12:51475746..51478915,6	K562	blood:
50	chr12:51182843..51185421-chr12:51191723..51194223,2	MCF-7	breast:

No data

Variant related genes	Relation type
ATF1	TF binding region
ATF1	CpG island
ENSG00000135457	chromatin interactions
ENSG00000272028	chromatin interactions
ENSG00000151376	chromatin interactions
ENSG00000155090	chromatin interactions
ENSG00000247011	chromatin interactions
ENSG00000135046	chromatin interactions
ENSG00000175866	chromatin interactions
ENSG00000203431	chromatin interactions
ENSG00000110925	chromatin interactions
ENSG00000066084	chromatin interactions
ENSG00000169045	chromatin interactions
ENSG00000206652	chromatin interactions
ENSG00000161813	chromatin interactions
ENSG00000242622	chromatin interactions
ENSG00000110934	chromatin interactions
ENSG00000200428	chromatin interactions
ENSG00000176834	chromatin interactions
ENSG00000158373	chromatin interactions
ENSG00000006534	chromatin interactions
ENSG00000123268	chromatin interactions
ENSG00000185432	chromatin interactions
ENSG00000110911	chromatin interactions
ENSG00000213995	chromatin interactions
ENSG00000254501	chromatin interactions
ENSG00000243075	chromatin interactions
ENSG00000167491	chromatin interactions
ENSG00000167588	chromatin interactions
ENSG00000149809	chromatin interactions
ENSG00000050426	chromatin interactions
ENSG00000075624	chromatin interactions

Extended variants
information (count: 1075 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1075 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150463920	chr12:51154738-51154739	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs548378271	chr12:51154741-51154742	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs368435107	chr12:51154762-51154763	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs568470059	chr12:51154770-51154771	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs138319865	chr12:51154798-51154799	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs548109182	chr12:51154809-51154810	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs74372991	chr12:51154815-51154816	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs540040493	chr12:51154842-51154843	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs11169551	chr12:51154844-51154845	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs114754739	chr12:51154846-51154847	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs567973799	chr12:51154880-51154881	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs535567993	chr12:51154881-51154882	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs555145670	chr12:51154886-51154887	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs572050225	chr12:51154936-51154937	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs115938226	chr12:51154941-51154942	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs574312603	chr12:51154993-51154994	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs182123059	chr12:51155027-51155028	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs149644537	chr12:51155061-51155062	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs577490046	chr12:51155062-51155063	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs4424726	chr12:51155069-51155070	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs543230154	chr12:51155075-51155076	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs563178705	chr12:51155084-51155085	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs572731740	chr12:51155095-51155096	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs4365114	chr12:51155114-51155115	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs4619210	chr12:51155117-51155118	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs187232173	chr12:51155121-51155122	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs542357284	chr12:51155124-51155125	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs562032303	chr12:51155125-51155126	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs34275616	chr12:51155129-51155130	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs527694295	chr12:51155152-51155153	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs547425739	chr12:51155162-51155163	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs571182288	chr12:51155169-51155170	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs10876080	chr12:51155194-51155195	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs191706264	chr12:51155195-51155196	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs75370524	chr12:51155202-51155203	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs74965884	chr12:51155204-51155205	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs112170093	chr12:51155207-51155208	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs570287667	chr12:51155236-51155237	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs71466986	chr12:51155299-51155300	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs535665659	chr12:51155324-51155325	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs369231532	chr12:51155380-51155381	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs67218241	chr12:51155422-51155423	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs57847386	chr12:51155460-51155461	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs375988284	chr12:51155499-51155500	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs534636873	chr12:51155514-51155515	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs112959693	chr12:51155521-51155522	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs577709145	chr12:51155539-51155540	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs144219160	chr12:51155547-51155548	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs116710278	chr12:51155576-51155577	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs376638030	chr12:51155592-51155593	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
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
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Cancer	17160897	CNVD
Breast cancer	21858162	CNVD
Urothelial carcinoma	21177765	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1413 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51135800-51156200	Weak transcription	Fetal Kidney	kidney
2	chr12:51139000-51156000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:51139600-51156000	Weak transcription	A549	lung
4	chr12:51140400-51156200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:51141800-51156600	Weak transcription	Fetal Brain Female	brain
6	chr12:51141800-51156800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr12:51142000-51156200	Weak transcription	HMEC	breast
8	chr12:51142000-51156200	Weak transcription	Osteobl	bone
9	chr12:51142000-51156800	Weak transcription	Pancreas	Pancrea
10	chr12:51142200-51156000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:51142200-51156200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr12:51142200-51156200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr12:51142200-51156400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr12:51142200-51156400	Weak transcription	NH-A	brain
15	chr12:51142200-51156800	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr12:51142200-51156800	Weak transcription	Spleen	Spleen
17	chr12:51142400-51155600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr12:51142800-51156200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:51142800-51156200	Weak transcription	Brain Germinal Matrix	brain
20	chr12:51143600-51155600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr12:51143600-51156200	Weak transcription	Adipose Nuclei	Adipose
22	chr12:51143800-51156000	Weak transcription	Thymus	Thymus
23	chr12:51143800-51156200	Weak transcription	Fetal Lung	lung
24	chr12:51144000-51156200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:51144400-51156200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:51144600-51155800	Weak transcription	Liver	Liver
27	chr12:51144600-51156200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:51144600-51156200	Weak transcription	Brain Anterior Caudate	brain
29	chr12:51144600-51156400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:51144600-51156800	Weak transcription	Lung	lung
31	chr12:51144800-51156000	Weak transcription	Fetal Intestine Small	intestine
32	chr12:51144800-51156200	Weak transcription	Primary T cells from cord blood	blood
33	chr12:51144800-51156200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr12:51144800-51156200	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr12:51144800-51156200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr12:51145000-51156800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr12:51145400-51156200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr12:51145400-51156200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:51145400-51156200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr12:51145800-51155800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr12:51146000-51156400	Weak transcription	Brain Hippocampus Middle	brain
42	chr12:51146000-51156800	Weak transcription	Fetal Muscle Trunk	muscle
43	chr12:51146400-51156000	Weak transcription	GM12878-XiMat	blood
44	chr12:51147400-51155800	Weak transcription	Left Ventricle	heart
45	chr12:51149000-51157000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr12:51150000-51156200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr12:51151200-51155200	Weak transcription	K562	blood
48	chr12:51152400-51155800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr12:51152600-51155600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr12:51154400-51154800	Flanking Active TSS	Primary hematopoietic stem cells	blood

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