Variant report

Variant	nsv1047264
Chromosome Location	chr12:31128606-31171300
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	BCL11A	chr12:31133143-31133385	GM12878	blood:	n/a	n/a
2	BHLHE40	chr12:31143178-31143220	A549	lung:	n/a	n/a
3	BHLHE40	chr12:31138858-31138979	K562	blood:	n/a	n/a
4	BHLHE40	chr12:31165039-31165126	K562	blood:	n/a	n/a
5	CEBPB	chr12:31131651-31131996	A549	lung:	n/a	chr12:31131815-31131826
6	CEBPB	chr12:31131670-31131987	HepG2	liver:	n/a	chr12:31131815-31131826
7	CEBPB	chr12:31167977-31168208	IMR90	lung:	n/a	n/a
8	CEBPB	chr12:31131676-31131927	H1-hESC	embryonic stem cell:	n/a	chr12:31131815-31131826
9	CEBPB	chr12:31150786-31151086	HepG2	liver:	n/a	n/a
10	CEBPB	chr12:31131641-31131997	IMR90	lung:	n/a	chr12:31131815-31131826
11	CEBPB	chr12:31131686-31131913	K562	blood:	n/a	chr12:31131815-31131826
12	CEBPB	chr12:31168040-31168169	A549	lung:	n/a	n/a
13	CHD2	chr12:31134394-31134481	K562	blood:	n/a	n/a
14	CHD2	chr12:31170756-31170775	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr12:31158840-31159211	Hela-S3	cervix:	n/a	n/a
16	CREB1	chr12:31138713-31139154	A549	lung:	n/a	n/a
17	CTCF	chr12:31149933-31149935	HepG2	liver:	n/a	n/a
18	CTCF	chr12:31165314-31165460	LNCaP	prostate:	n/a	chr12:31165385-31165401 chr12:31165386-31165399 chr12:31165384-31165402
19	CTCF	chr12:31142900-31143050	GM12865	blood:	n/a	chr12:31142936-31142952 chr12:31142935-31142953
20	CTCF	chr12:31170401-31170424	GM13977	blood:	n/a	n/a
21	CTCF	chr12:31146880-31147030	WERI-Rb-1	eye:	n/a	n/a
22	CTCF	chr12:31142874-31143022	GM13977	blood:	n/a	chr12:31142936-31142952 chr12:31142935-31142953
23	CTCF	chr12:31138860-31139010	A549	lung:	n/a	n/a
24	CTCF	chr12:31138580-31138730	AG09309	skin:	n/a	n/a
25	CTCF	chr12:31142880-31143030	NHLF	lung:	n/a	chr12:31142936-31142952 chr12:31142935-31142953
26	CTCF	chr12:31142816-31143093	Gliobla	brain:	n/a	chr12:31142936-31142952 chr12:31142935-31142953 chr12:31142830-31142848
27	CTCF	chr12:31142952-31142973	Kidney_OC	kidney:	n/a	n/a
28	CTCF	chr12:31165261-31165432	IMR90	lung:	n/a	chr12:31165385-31165401 chr12:31165386-31165399 chr12:31165384-31165402
29	CTCF	chr12:31143060-31143210	HRE	kidney:	n/a	n/a
30	CTCF	chr12:31132000-31132150	HepG2	liver:	n/a	n/a
31	CTCF	chr12:31142624-31143260	SK-N-SH	brain:	n/a	chr12:31142936-31142952 chr12:31142935-31142953 chr12:31142830-31142848
32	CTCF	chr12:31142900-31143050	HMEC	breast:	n/a	chr12:31142936-31142952 chr12:31142935-31142953
33	CTCF	chr12:31165600-31165750	HVMF	connective:	n/a	n/a
34	CTCF	chr12:31138820-31138970	K562	blood:	n/a	n/a
35	CTCF	chr12:31165280-31165430	NHDF-neo	bronchial:	n/a	chr12:31165385-31165401 chr12:31165386-31165399 chr12:31165384-31165402
36	CTCF	chr12:31131940-31132090	NHDF-neo	bronchial:	n/a	n/a
37	CTCF	chr12:31165260-31165410	GM12872	blood:	n/a	chr12:31165385-31165401 chr12:31165386-31165399 chr12:31165384-31165402
38	CTCF	chr12:31142850-31143046	K562	blood:	n/a	chr12:31142936-31142952 chr12:31142935-31142953
39	CTCF	chr12:31165300-31165450	GM12870	blood:	n/a	chr12:31165385-31165401 chr12:31165386-31165399 chr12:31165384-31165402
40	CTCF	chr12:31165286-31165495	Fibrobl	skin:	n/a	chr12:31165385-31165401 chr12:31165386-31165399 chr12:31165384-31165402
41	CTCF	chr12:31142860-31143010	WERI-Rb-1	eye:	n/a	chr12:31142936-31142952 chr12:31142935-31142953
42	CTCF	chr12:31142800-31142950	NHEK	skin:	n/a	chr12:31142830-31142848
43	CTCF	chr12:31138860-31139010	BJ	skin:	n/a	n/a
44	CTCF	chr12:31142833-31143067	A549	lung:	n/a	chr12:31142936-31142952 chr12:31142935-31142953
45	CTCF	chr12:31142785-31143109	MCF-7	breast:	n/a	chr12:31142936-31142952 chr12:31142935-31142953 chr12:31142830-31142848
46	CTCF	chr12:31142838-31143052	GM12878	blood:	n/a	chr12:31142936-31142952 chr12:31142935-31142953
47	CTCF	chr12:31138763-31139066	GM19239	blood:	n/a	chr12:31138776-31138784
48	CTCF	chr12:31165300-31165450	HRPEpiC	eye:	n/a	chr12:31165385-31165401 chr12:31165386-31165399 chr12:31165384-31165402
49	CTCF	chr12:31142840-31142990	GM12868	blood:	n/a	chr12:31142936-31142952 chr12:31142935-31142953
50	CTCF	chr12:31165280-31165430	HRPEpiC	eye:	n/a	chr12:31165385-31165401 chr12:31165386-31165399 chr12:31165384-31165402

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:31149418-31149468	HL-60	blood:	n/a
2	chr12:31145469-31145519	CMK	blood:	n/a
3	chr12:31149418-31149468	LNCaP	prostate:	n/a
4	chr12:31145469-31145519	PANC-1	pancreas:	n/a
5	chr12:31149418-31149468	PrEC	prostate:	n/a
6	chr12:31130225-31130275	SAEC	small airway:	n/a
7	chr12:31138958-31139008	AG10803	skin:	n/a
8	chr12:31130225-31130275	HRCEpiC	kidney:	n/a
9	chr12:31130225-31130275	ECC-1	luminal epithelium:	n/a
10	chr12:31130225-31130275	PANC-1	pancreas:	n/a
11	chr12:31130225-31130275	HRE	kidney:	n/a
12	chr12:31130225-31130275	GM12892	blood:	n/a
13	chr12:31149418-31149468	HRCEpiC	kidney:	n/a
14	chr12:31138958-31139008	HNPCEpiC	eye:	n/a
15	chr12:31130225-31130275	PFSK-1	brain:	n/a
16	chr12:31149418-31149468	GM06990	blood:	n/a
17	chr12:31156691-31156741	Caco-2	colon:	n/a
18	chr12:31156691-31156741	PANC-1	pancreas:	n/a
19	chr12:31145469-31145519	RPTEC	kidney:	n/a
20	chr12:31145469-31145519	NT2-D1	testis:	n/a
21	chr12:31149418-31149468	AG04449	skin:	fetal
22	chr12:31149418-31149468	HPAEpiC	pulmonary alveolar:	n/a
23	chr12:31149418-31149468	CMK	blood:	n/a
24	chr12:31149418-31149468	Hepatocyte	liver:	n/a
25	chr12:31156691-31156741	NH-A	brain:	n/a
26	chr12:31156691-31156741	HRPEpiC	eye:	n/a
27	chr12:31138958-31139008	AG09309	skin:	n/a
28	chr12:31130225-31130275	T-47D	breast:	n/a
29	chr12:31149418-31149468	MCF10A-Er-Src	breast:	n/a
30	chr12:31138958-31139008	HAEpiC	amniotic membrane:	n/a
31	chr12:31138958-31139008	LNCaP	prostate:	n/a
32	chr12:31149418-31149468	HIPEpiC	eye:	n/a
33	chr12:31130225-31130275	RPTEC	kidney:	n/a
34	chr12:31145469-31145519	SKMC	muscle:	n/a
35	chr12:31145469-31145519	SK-N-SH	brain:	n/a
36	chr12:31149418-31149468	AG10803	skin:	n/a
37	chr12:31130225-31130275	MCF-7	breast:	n/a
38	chr12:31149418-31149468	HRPEpiC	eye:	n/a
39	chr12:31149418-31149468	HCF	heart:	n/a
40	chr12:31130225-31130275	K562	blood:	n/a
41	chr12:31156691-31156741	AG10803	skin:	n/a
42	chr12:31149418-31149468	AG09319	gingival:	n/a
43	chr12:31138958-31139008	ProgFib	skin:	n/a
44	chr12:31156691-31156741	A549	lung:	n/a
45	chr12:31138958-31139008	GM12878	blood:	n/a
46	chr12:31156691-31156741	AG04450	lung:	fetal
47	chr12:31149418-31149468	PFSK-1	brain:	n/a
48	chr12:31138958-31139008	Jurkat	blood:	n/a
49	chr12:31149418-31149468	T-47D	breast:	n/a
50	chr12:31130225-31130275	SK-N-SH_RA	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:31118639..31119261-chr12:31138195..31139078,2	MCF-7	breast:
2	chr12:31149175..31150805-chr12:31151820..31154429,2	K562	blood:
3	chr12:31149175..31150805-chr12:31151820..31154429,2	K562	blood:
4	chr12:30999859..31000781-chr12:31142534..31143349,2	K562	blood:
5	chr12:31122291..31124648-chr12:31129528..31132132,2	K562	blood:
6	chr12:31122020..31124643-chr12:31127496..31129096,2	K562	blood:
7	chr12:31003713..31004456-chr12:31138363..31139354,3	MCF-7	breast:
8	chr12:31118586..31119188-chr12:31138566..31139432,2	MCF-7	breast:
9	chr12:31159465..31161712-chr12:31163343..31166025,2	K562	blood:
10	chr12:31121879..31124648-chr12:31129528..31132087,2	K562	blood:
11	chr12:31114199..31115183-chr12:31138028..31138949,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226472	TF binding region
ENSG00000256984	TF binding region
ENSG00000226472	CpG island
ENSG00000256984	CpG island
ENSG00000256984	chromatin interactions

Extended variants
information (count: 1724 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1724 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1950	chr12:31128606-31128607	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs40423	chr12:31128621-31128622	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs547484153	chr12:31128651-31128652	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs566055943	chr12:31128674-31128675	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs536196908	chr12:31128676-31128677	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs145422790	chr12:31128677-31128678	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs569547238	chr12:31128694-31128695	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs536862502	chr12:31128795-31128796	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs147698132	chr12:31128848-31128849	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs369466765	chr12:31128867-31128868	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs372886720	chr12:31128879-31128880	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs541082682	chr12:31128897-31128898	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs10843868	chr12:31128920-31128921	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs574371200	chr12:31128922-31128923	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs542979950	chr12:31128926-31128927	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs561550254	chr12:31128944-31128945	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs10843869	chr12:31128946-31128947	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs149174655	chr12:31128958-31128959	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs185953115	chr12:31128959-31128960	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs74566125	chr12:31128972-31128973	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs35102	chr12:31128988-31128989	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs77252366	chr12:31129006-31129007	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs190364197	chr12:31129049-31129050	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs536862786	chr12:31129082-31129083	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs16907089	chr12:31129130-31129131	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs548142337	chr12:31129167-31129168	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs569637832	chr12:31129173-31129174	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs11051193	chr12:31129175-31129176	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs181484997	chr12:31129176-31129177	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs185581444	chr12:31129180-31129181	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs534850863	chr12:31129189-31129190	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs75634403	chr12:31129222-31129223	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs142155294	chr12:31129237-31129238	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs371517809	chr12:31129238-31129239	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs575225404	chr12:31129247-31129248	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs151208387	chr12:31129252-31129253	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs140388306	chr12:31129266-31129267	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs374448188	chr12:31129281-31129282	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs191405062	chr12:31129298-31129299	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs556948971	chr12:31129304-31129305	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs576818040	chr12:31129320-31129321	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs182724897	chr12:31129344-31129345	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs117696369	chr12:31129359-31129360	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs577343987	chr12:31129410-31129411	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs187708125	chr12:31129443-31129444	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs35101	chr12:31129444-31129445	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs559811073	chr12:31129460-31129461	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs199705650	chr12:31129503-31129504	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs530107931	chr12:31129511-31129512	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs548182388	chr12:31129534-31129535	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	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
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Follicular lymphoma	18703704	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Sertoli-cell only syndrome	20877625	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Autism	21865298	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Williams Syndrome	20824207	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:545 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31108000-31130600	Weak transcription	Fetal Brain Female	brain
2	chr12:31122800-31133600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:31124000-31129200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:31124000-31129400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:31124000-31129400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr12:31124200-31128800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:31126200-31128800	Weak transcription	Brain Angular Gyrus	brain
8	chr12:31126400-31130600	Weak transcription	Spleen	Spleen
9	chr12:31127000-31132600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:31127400-31130800	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:31127600-31129400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr12:31127600-31129600	Enhancers	Right Ventricle	heart
13	chr12:31128200-31129000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:31128200-31133600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:31128200-31134600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:31128400-31142800	Weak transcription	Brain Germinal Matrix	brain
17	chr12:31128600-31128800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:31128600-31129000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:31128600-31129000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr12:31128600-31130000	Enhancers	NHDF-Ad	bronchial
21	chr12:31128600-31130600	Weak transcription	Fetal Heart	heart
22	chr12:31128600-31135800	Enhancers	Fetal Stomach	stomach
23	chr12:31128800-31129200	Enhancers	Brain Cingulate Gyrus	brain
24	chr12:31128800-31129200	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr12:31128800-31129600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:31128800-31130200	Enhancers	Brain Angular Gyrus	brain
27	chr12:31129000-31129200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:31129000-31129600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:31129000-31130000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:31129000-31130400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr12:31129000-31130600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr12:31129000-31131400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:31129000-31133800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr12:31129200-31129400	Enhancers	Fetal Thymus	thymus
35	chr12:31129200-31129800	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr12:31129200-31130600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr12:31129200-31134400	Enhancers	Fetal Muscle Leg	muscle
38	chr12:31129400-31129600	Bivalent Enhancer	Adipose Nuclei	Adipose
39	chr12:31129400-31129800	Enhancers	Brain Hippocampus Middle	brain
40	chr12:31129400-31130000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr12:31129400-31130200	Weak transcription	Fetal Thymus	thymus
42	chr12:31129400-31131000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr12:31129400-31131200	Enhancers	H1 Cell Line	embryonic stem cell
44	chr12:31129400-31131400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr12:31129400-31131600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr12:31129600-31129800	Enhancers	Fetal Brain Male	brain
47	chr12:31129600-31131600	Weak transcription	Right Ventricle	heart
48	chr12:31129600-31132600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:31129800-31130800	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr12:31129800-31131200	Enhancers	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links