Variant report

Variant	esv2757512
Chromosome Location	chr12:75109801-75213909
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr12:75194216-75194284	A549	lung:	n/a	n/a
2	CEBPB	chr12:75195402-75195853	A549	lung:	n/a	chr12:75195567-75195576 chr12:75195567-75195576 chr12:75195565-75195578 chr12:75195567-75195576 chr12:75195566-75195577
3	CEBPB	chr12:75168732-75168947	A549	lung:	n/a	n/a
4	CEBPB	chr12:75195496-75195650	HepG2	liver:	n/a	chr12:75195567-75195576 chr12:75195567-75195576 chr12:75195565-75195578 chr12:75195567-75195576 chr12:75195566-75195577
5	CEBPB	chr12:75184798-75184845	HepG2	liver:	n/a	n/a
6	CEBPB	chr12:75191376-75191500	A549	lung:	n/a	chr12:75191468-75191485
7	CEBPB	chr12:75195368-75195808	MCF-7	breast:	n/a	chr12:75195567-75195576 chr12:75195567-75195576 chr12:75195565-75195578 chr12:75195567-75195576 chr12:75195566-75195577
8	CEBPB	chr12:75195355-75195778	HCT-116	colon:	n/a	chr12:75195567-75195576 chr12:75195567-75195576 chr12:75195565-75195578 chr12:75195567-75195576 chr12:75195566-75195577
9	CEBPB	chr12:75195383-75195762	IMR90	lung:	n/a	chr12:75195567-75195576 chr12:75195567-75195576 chr12:75195565-75195578 chr12:75195567-75195576 chr12:75195566-75195577
10	CEBPB	chr12:75118644-75118950	HepG2	liver:	n/a	chr12:75118784-75118793 chr12:75118784-75118793 chr12:75118784-75118793 chr12:75118701-75118712 chr12:75118782-75118795
11	CEBPB	chr12:75195402-75195745	A549	lung:	n/a	chr12:75195567-75195576 chr12:75195567-75195576 chr12:75195565-75195578 chr12:75195567-75195576 chr12:75195566-75195577
12	CEBPB	chr12:75171901-75172235	MCF-7	breast:	n/a	n/a
13	CEBPB	chr12:75195387-75195757	A549	lung:	n/a	chr12:75195567-75195576 chr12:75195567-75195576 chr12:75195565-75195578 chr12:75195567-75195576 chr12:75195566-75195577
14	CEBPB	chr12:75195373-75195771	Hela-S3	cervix:	n/a	chr12:75195567-75195576 chr12:75195567-75195576 chr12:75195565-75195578 chr12:75195567-75195576 chr12:75195566-75195577
15	CEBPB	chr12:75195336-75195906	MCF-7	breast:	n/a	chr12:75195567-75195576 chr12:75195567-75195576 chr12:75195565-75195578 chr12:75195567-75195576 chr12:75195566-75195577
16	CEBPB	chr12:75126041-75126359	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr12:75195380-75195764	HepG2	liver:	n/a	chr12:75195567-75195576 chr12:75195567-75195576 chr12:75195565-75195578 chr12:75195567-75195576 chr12:75195566-75195577
18	CEBPB	chr12:75195388-75195790	H1-hESC	embryonic stem cell:	n/a	chr12:75195567-75195576 chr12:75195567-75195576 chr12:75195565-75195578 chr12:75195567-75195576 chr12:75195566-75195577
19	CEBPB	chr12:75195406-75195744	K562	blood:	n/a	chr12:75195567-75195576 chr12:75195567-75195576 chr12:75195565-75195578 chr12:75195567-75195576 chr12:75195566-75195577
20	CEBPB	chr12:75184723-75184889	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr12:75195356-75195839	ECC-1	luminal epithelium:	n/a	chr12:75195567-75195576 chr12:75195567-75195576 chr12:75195565-75195578 chr12:75195567-75195576 chr12:75195566-75195577
22	CEBPB	chr12:75118638-75118882	H1-hESC	embryonic stem cell:	n/a	chr12:75118784-75118793 chr12:75118784-75118793 chr12:75118784-75118793 chr12:75118701-75118712 chr12:75118782-75118795
23	CEBPB	chr12:75195395-75195822	HCT-116	colon:	n/a	chr12:75195567-75195576 chr12:75195567-75195576 chr12:75195565-75195578 chr12:75195567-75195576 chr12:75195566-75195577
24	CEBPB	chr12:75126094-75126486	HCT-116	colon:	n/a	n/a
25	CEBPB	chr12:75118635-75118948	IMR90	lung:	n/a	chr12:75118784-75118793 chr12:75118784-75118793 chr12:75118784-75118793 chr12:75118701-75118712 chr12:75118782-75118795
26	CEBPB	chr12:75118639-75119188	ECC-1	luminal epithelium:	n/a	chr12:75118784-75118793 chr12:75118784-75118793 chr12:75118784-75118793 chr12:75118701-75118712 chr12:75118782-75118795
27	CEBPB	chr12:75195348-75195775	ECC-1	luminal epithelium:	n/a	chr12:75195567-75195576 chr12:75195567-75195576 chr12:75195565-75195578 chr12:75195567-75195576 chr12:75195566-75195577
28	CEBPB	chr12:75156758-75156986	A549	lung:	n/a	chr12:75156857-75156870 chr12:75156859-75156868 chr12:75156857-75156868 chr12:75156859-75156868 chr12:75156859-75156868 chr12:75156858-75156869 chr12:75156859-75156868 chr12:75156857-75156870 chr12:75156857-75156870
29	CEBPB	chr12:75156716-75156999	HepG2	liver:	n/a	chr12:75156857-75156870 chr12:75156859-75156868 chr12:75156857-75156868 chr12:75156859-75156868 chr12:75156859-75156868 chr12:75156858-75156869 chr12:75156859-75156868 chr12:75156857-75156870 chr12:75156857-75156870
30	CEBPB	chr12:75118652-75118932	A549	lung:	n/a	chr12:75118784-75118793 chr12:75118784-75118793 chr12:75118784-75118793 chr12:75118701-75118712 chr12:75118782-75118795
31	CEBPB	chr12:75156761-75157040	IMR90	lung:	n/a	chr12:75156857-75156870 chr12:75156859-75156868 chr12:75156857-75156868 chr12:75156859-75156868 chr12:75156859-75156868 chr12:75156858-75156869 chr12:75156859-75156868 chr12:75156857-75156870 chr12:75156857-75156870
32	CEBPB	chr12:75150795-75150866	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr12:75141200-75141350	HPAF	blood vessel:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
34	CTCF	chr12:75197026-75197385	A549	lung:	n/a	n/a
35	CTCF	chr12:75197200-75197350	SAEC	small airway:	n/a	n/a
36	CTCF	chr12:75197080-75197230	RPTEC	kidney:	n/a	n/a
37	CTCF	chr12:75197160-75197310	BJ	skin:	n/a	n/a
38	CTCF	chr12:75141225-75141315	HepG2	liver:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
39	CTCF	chr12:75197140-75197290	HRE	kidney:	n/a	n/a
40	CTCF	chr12:75141181-75141342	H1-hESC	embryonic stem cell:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
41	CTCF	chr12:75197120-75197270	Caco-2	colon:	n/a	n/a
42	CTCF	chr12:75141152-75141376	Medullo	brain:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
43	CTCF	chr12:75197086-75197278	GM12891	blood:	n/a	n/a
44	CTCF	chr12:75197120-75197270	SK-N-SH_RA	brain:	n/a	n/a
45	CTCF	chr12:75197120-75197270	HEK293	kidney:	n/a	n/a
46	CTCF	chr12:75196780-75196930	HPAF	blood vessel:	n/a	n/a
47	CTCF	chr12:75197100-75197250	GM12869	blood:	n/a	n/a
48	CTCF	chr12:75141200-75141350	HBMEC	blood vessel:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
49	CTCF	chr12:75197099-75197336	Medullo	brain:	n/a	n/a
50	CTCF	chr12:75197102-75197341	SK-N-SH_RA	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:75116380-75116430	NHBE	bronchial:	n/a
2	chr12:75116380-75116430	NHBE	bronchial:	n/a
3	chr12:75116380-75116430	A549	lung:	n/a
4	chr12:75116380-75116430	HCT-116	colon:	n/a
5	chr12:75116380-75116430	ovcar-3	ovarian:	n/a
6	chr12:75116380-75116430	NHDF-neo	bronchial:	n/a
7	chr12:75116380-75116430	HMEC	breast:	n/a
8	chr12:75116380-75116430	Hepatocyte	liver:	n/a
9	chr12:75116380-75116430	AG04450	lung:	fetal
10	chr12:75116380-75116430	Jurkat	blood:	n/a
11	chr12:75116380-75116430	HIPEpiC	eye:	n/a
12	chr12:75116380-75116430	RPTEC	kidney:	n/a
13	chr12:75116380-75116430	ECC-1	luminal epithelium:	n/a
14	chr12:75116380-75116430	IMR90	lung:	fetal
15	chr12:75116380-75116430	HNPCEpiC	eye:	n/a
16	chr12:75116380-75116430	HEK293	kidney:	embryo
17	chr12:75116380-75116430	Caco-2	colon:	n/a
18	chr12:75116380-75116430	Hela-S3	cervix:	n/a
19	chr12:75116380-75116430	T-47D	breast:	n/a
20	chr12:75116380-75116430	GM12892	blood:	n/a
21	chr12:75116380-75116430	HPAEpiC	pulmonary alveolar:	n/a
22	chr12:75116380-75116430	AG04449	skin:	fetal
23	chr12:75116380-75116430	SKMC	muscle:	n/a
24	chr12:75116380-75116430	HL-60	blood:	n/a
25	chr12:75116380-75116430	MCF-7	breast:	n/a
26	chr12:75116380-75116430	MCF10A-Er-Src	breast:	n/a
27	chr12:75116380-75116430	HCF	heart:	n/a
28	chr12:75116380-75116430	PFSK-1	brain:	n/a
29	chr12:75116380-75116430	NT2-D1	testis:	n/a
30	chr12:75116380-75116430	AG09309	skin:	n/a
31	chr12:75116380-75116430	HCM	heart:	n/a
32	chr12:75116380-75116430	K562	blood:	n/a
33	chr12:75116380-75116430	SK-N-SH_RA	brain:	n/a
34	chr12:75116380-75116430	BE2_C	brain:	n/a
35	chr12:75116380-75116430	HRPEpiC	eye:	n/a
36	chr12:75116380-75116430	HUVEC	blood vessel:	n/a
37	chr12:75116380-75116430	SK-N-MC	brain:	n/a
38	chr12:75116380-75116430	BJ	skin:	n/a
39	chr12:75116380-75116430	AoSMC	blood vessel:	n/a
40	chr12:75116380-75116430	NB4	blood:	n/a
41	chr12:75116380-75116430	SAEC	small airway:	n/a
42	chr12:75116380-75116430	AG09319	gingival:	n/a
43	chr12:75116380-75116430	HCPEpiC	choroid plexus:	n/a
44	chr12:75116380-75116430	LNCaP	prostate:	n/a
45	chr12:75116380-75116430	CMK	blood:	n/a
46	chr12:75116380-75116430	HRCEpiC	kidney:	n/a
47	chr12:75116380-75116430	HRE	kidney:	n/a
48	chr12:75116380-75116430	AG10803	skin:	n/a
49	chr12:75116380-75116430	GM12878	blood:	n/a
50	chr12:75116380-75116430	GM06990	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:75106983..75109185-chr12:75115008..75117745,2	K562	blood:
2	chr12:75140910..75141773-chr12:75451603..75452321,3	MCF-7	breast:
3	chr12:75160845..75163008-chr12:75163683..75165464,2	MCF-7	breast:
4	chr12:75140866..75141740-chr12:75683619..75684268,4	MCF-7	breast:
5	chr12:75123651..75124270-chr3:64290669..64291523,2	MCF-7	breast:
6	chr12:75196803..75199256-chr12:75201157..75202833,2	MCF-7	breast:
7	chr12:75200335..75203093-chr12:75211063..75214907,4	MCF-7	breast:
8	chr12:75174683..75177641-chr12:75186836..75188465,2	MCF-7	breast:
9	chr12:75143585..75146196-chr12:75682282..75684719,2	MCF-7	breast:
10	chr12:75204290..75207004-chr12:75208185..75210235,2	MCF-7	breast:
11	chr12:75209417..75211529-chr12:75216257..75219142,2	MCF-7	breast:
12	chr12:75196304..75196971-chr12:75265353..75265934,3	MCF-7	breast:
13	chr12:75204290..75207004-chr12:75208185..75210235,2	MCF-7	breast:
14	chr12:75120647..75123375-chr12:75123565..75125151,2	MCF-7	breast:
15	chr12:75200335..75203093-chr12:75211063..75214907,4	MCF-7	breast:
16	chr12:75196597..75197191-chr12:75265299..75266255,3	MCF-7	breast:
17	chr12:75195069..75197266-chr12:75262838..75264849,2	MCF-7	breast:
18	chr12:75197132..75197693-chr12:75727753..75728675,2	MCF-7	breast:
19	chr12:75196803..75199256-chr12:75201157..75202833,2	MCF-7	breast:
20	chr12:75207717..75210514-chr12:75285038..75287810,2	MCF-7	breast:
21	chr12:75174683..75177641-chr12:75186836..75188465,2	MCF-7	breast:
22	chr12:75199743..75202580-chr12:75253148..75256018,2	MCF-7	breast:
23	chr12:75200349..75202777-chr12:75227441..75229232,2	MCF-7	breast:
24	chr12:75160845..75163008-chr12:75163683..75165464,2	MCF-7	breast:
25	chr12:75196228..75196971-chr12:75265351..75266301,5	MCF-7	breast:
26	chr12:75082733..75083422-chr12:75196794..75197408,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNC2-7	chr12:75121818-75122631	NONHSAT029512

Variant related genes	Relation type
ENSG00000257998	TF binding region
ENSG00000257998	CpG island
ENSG00000257998	chromatin interactions
ENSG00000173401	chromatin interactions

Extended variants
information (count: 1578 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1578 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7955185	chr12:75110427-75110428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113873573	chr12:75110484-75110485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368980099	chr12:75110564-75110565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570772560	chr12:75110569-75110570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs60341073	chr12:75110570-75110571	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs556455262	chr12:75110591-75110592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115461153	chr12:75110595-75110596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73359998	chr12:75110596-75110597	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs554644281	chr12:75110604-75110605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574487273	chr12:75110639-75110640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540194905	chr12:75110681-75110682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554123536	chr12:75110709-75110710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577181097	chr12:75110759-75110760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149381211	chr12:75110764-75110765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79331670	chr12:75110794-75110795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78074389	chr12:75110795-75110796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566033475	chr12:75110859-75110860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7958512	chr12:75110860-75110861	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs189727069	chr12:75110871-75110872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527691285	chr12:75110930-75110931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547354476	chr12:75110944-75110945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570833942	chr12:75110955-75110956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79685719	chr12:75110973-75110974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7971770	chr12:75110982-75110983	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs192706994	chr12:75111058-75111059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78066052	chr12:75111075-75111076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141854334	chr12:75111123-75111124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs59792000	chr12:75111170-75111171	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs554714748	chr12:75111173-75111174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568127807	chr12:75111194-75111195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61932625	chr12:75111217-75111218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553830085	chr12:75111249-75111250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576893407	chr12:75111320-75111321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7972303	chr12:75111321-75111322	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs556419420	chr12:75111333-75111334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143695074	chr12:75111345-75111346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541970163	chr12:75111356-75111357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561865001	chr12:75111415-75111416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75228340	chr12:75111527-75111528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527754391	chr12:75111543-75111544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541107854	chr12:75111570-75111571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564178253	chr12:75111615-75111616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10879828	chr12:75111646-75111647	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs550208303	chr12:75111664-75111665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563966934	chr12:75111665-75111666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529478435	chr12:75111668-75111669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78734799	chr12:75111669-75111670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12366985	chr12:75111676-75111677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200278909	chr12:75111677-75111678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183484419	chr12:75111685-75111686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	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
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	17133270	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	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
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75110400-75110800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr12:75110400-75110800	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr12:75110800-75111400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:75110800-75116600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr12:75115000-75116800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:75115800-75116200	Enhancers	Left Ventricle	heart
7	chr12:75115800-75116400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:75116000-75116200	Enhancers	H9 Cell Line	embryonic stem cell
9	chr12:75116000-75116400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr12:75116000-75116400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:75116400-75117000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr12:75116400-75117400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr12:75116400-75117400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:75116600-75118000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr12:75117400-75117800	Enhancers	H9 Cell Line	embryonic stem cell
16	chr12:75117600-75117800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:75117600-75120000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:75119000-75119400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr12:75126400-75126600	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr12:75126600-75127000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr12:75127000-75127200	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr12:75127200-75134200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr12:75134200-75134600	Enhancers	Fetal Heart	heart
24	chr12:75134200-75135800	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr12:75134600-75135000	Weak transcription	Fetal Heart	heart
26	chr12:75135000-75135800	Enhancers	Fetal Heart	heart
27	chr12:75155200-75155400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:75155400-75156400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:75156400-75156800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:75168600-75168800	Enhancers	A549	lung
31	chr12:75171800-75172000	Enhancers	HSMM	muscle
32	chr12:75171800-75172000	Enhancers	HSMMtube	muscle
33	chr12:75172800-75173200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr12:75173000-75173800	Enhancers	NH-A	brain
35	chr12:75173200-75174200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr12:75173200-75176600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:75173400-75176600	Enhancers	HUVEC	blood vessel
38	chr12:75173600-75176600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr12:75173800-75174200	Flanking Active TSS	NH-A	brain
40	chr12:75173800-75176200	Enhancers	Osteobl	bone
41	chr12:75173800-75176400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:75173800-75176600	Enhancers	HSMM	muscle
43	chr12:75173800-75176600	Enhancers	HSMMtube	muscle
44	chr12:75174000-75175800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:75174200-75174600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:75174200-75176000	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr12:75174200-75176600	Enhancers	NH-A	brain
48	chr12:75174400-75174800	Enhancers	Hela-S3	cervix
49	chr12:75174400-75176600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr12:75174600-75175000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links