Variant report

Variant	nsv511878
Chromosome Location	chr6:34036978-34040280
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	BCL3	chr6:34038584-34039181	GM12878	blood:	n/a	chr6:34038681-34038689 chr6:34038672-34038681
2	BCL3	chr6:34038484-34039145	GM12878	blood:	n/a	chr6:34038681-34038689 chr6:34038672-34038681
3	BHLHE40	chr6:34039681-34039895	K562	blood:	n/a	n/a
4	CBX3	chr6:34038893-34041263	K562	blood:	n/a	n/a
5	CBX3	chr6:34039045-34041038	K562	blood:	n/a	n/a
6	CEBPB	chr6:34039938-34040191	HepG2	liver:	n/a	n/a
7	CTCF	chr6:34039740-34039890	GM12875	blood:	n/a	n/a
8	CTCF	chr6:34038160-34038310	GM06990	blood:	n/a	n/a
9	CTCF	chr6:34038990-34039470	GM19239	blood:	n/a	n/a
10	CTCF	chr6:34039840-34039990	GM12866	blood:	n/a	n/a
11	CTCF	chr6:34038285-34038365	GM12892	blood:	n/a	chr6:34038319-34038332 chr6:34038317-34038335
12	CTCF	chr6:34039620-34039770	GM12872	blood:	n/a	n/a
13	CTCF	chr6:34039640-34039790	NB4	blood:	n/a	n/a
14	CTCF	chr6:34039740-34039890	AoAF	blood vessel:	n/a	n/a
15	CTCF	chr6:34038260-34038410	GM06990	blood:	n/a	chr6:34038319-34038332 chr6:34038317-34038335
16	CTCF	chr6:34038260-34038410	WERI-Rb-1	eye:	n/a	chr6:34038319-34038332 chr6:34038317-34038335
17	CTCF	chr6:34039720-34039870	HepG2	liver:	n/a	n/a
18	CTCF	chr6:34039590-34040336	GM19239	blood:	n/a	n/a
19	CTCF	chr6:34038314-34038399	GM12878	blood:	n/a	chr6:34038319-34038332 chr6:34038317-34038335
20	E2F6	chr6:34039082-34041089	Hela-S3	cervix:	n/a	n/a
21	ELK1	chr6:34039323-34039371	GM12878	blood:	n/a	n/a
22	GATA1	chr6:34039269-34040553	K562	blood:	n/a	n/a
23	GTF2F1	chr6:34039826-34039968	H1-hESC	embryonic stem cell:	n/a	n/a
24	HA-E2F1	chr6:34039020-34040976	MCF-7	breast:	n/a	n/a
25	IRF1	chr6:34039799-34039919	K562	blood:	n/a	n/a
26	MAZ	chr6:34039711-34040016	HepG2	liver:	n/a	n/a
27	MAZ	chr6:34039743-34039920	Hela-S3	cervix:	n/a	n/a
28	MXI1	chr6:34040164-34040357	Hela-S3	cervix:	n/a	n/a
29	MYC	chr6:34040000-34040100	HUVEC	blood vessel:	n/a	n/a
30	MYC	chr6:34039137-34039269	GM12878	blood:	n/a	n/a
31	MYC	chr6:34039000-34039100	H1-hESC	embryonic stem cell:	n/a	n/a
32	MYC	chr6:34039715-34039765	H1-hESC	embryonic stem cell:	n/a	n/a
33	MYC	chr6:34039707-34039759	GM12878	blood:	n/a	n/a
34	MYC	chr6:34039582-34039730	HUVEC	blood vessel:	n/a	n/a
35	NFATC1	chr6:34038684-34039115	GM12878	blood:	n/a	n/a
36	NFATC1	chr6:34038696-34039322	GM12878	blood:	n/a	n/a
37	NR2C2	chr6:34039172-34041040	Hela-S3	cervix:	n/a	n/a
38	NR2C2	chr6:34038968-34041304	GM12878	blood:	n/a	n/a
39	PAX5	chr6:34038997-34040117	GM12878	blood:	n/a	n/a
40	PBX3	chr6:34038015-34038224	GM12878	blood:	n/a	n/a
41	PBX3	chr6:34038734-34039343	GM12878	blood:	n/a	n/a
42	POLR2A	chr6:34039842-34039983	Gliobla	brain:	n/a	n/a
43	POLR2A	chr6:34040274-34040982	HepG2	liver:	n/a	n/a
44	POLR2A	chr6:34039057-34039064	HepG2	liver:	n/a	n/a
45	POLR2A	chr6:34039655-34039681	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr6:34039104-34040090	HepG2	liver:	n/a	n/a
47	POLR2A	chr6:34039705-34039887	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr6:34040221-34040254	HepG2	liver:	n/a	n/a
49	POLR2A	chr6:34040200-34040251	K562	blood:	n/a	n/a
50	POLR2A	chr6:34040008-34040050	Gliobla	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:33674390..33676592-chr6:34040123..34042729,2	MCF-7	breast:
2	chr6:34032376..34034708-chr6:34039734..34041335,2	K562	blood:
3	chr6:33679075..33679957-chr6:34037863..34038862,2	MCF-7	breast:
4	chr6:34023974..34026204-chr6:34036920..34039187,2	MCF-7	breast:
5	chr6:34024875..34026613-chr6:34038654..34040465,2	K562	blood:

Variant related genes	Relation type
ENSG00000221779	TF binding region
ENSG00000124493	chromatin interactions
ENSG00000137288	chromatin interactions

Extended variants
information (count: 195 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:195 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2451366	chr6:34036979-34036980	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs142693060	chr6:34036981-34036982	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs558431606	chr6:34036982-34036983	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs9469702	chr6:34036983-34036984	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs59527517	chr6:34036986-34036987	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs570752545	chr6:34036991-34036992	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs186768924	chr6:34037039-34037040	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs148502997	chr6:34037091-34037092	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs568720517	chr6:34037148-34037149	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs114084772	chr6:34037172-34037173	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs556887088	chr6:34037173-34037174	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs372741859	chr6:34037183-34037184	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs2894392	chr6:34037297-34037298	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs575412886	chr6:34037306-34037307	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs545870835	chr6:34037347-34037348	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs557875273	chr6:34037357-34037358	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs377215845	chr6:34037425-34037426	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs3222082	chr6:34037426-34037427	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs9469703	chr6:34037437-34037438	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs377337996	chr6:34037449-34037450	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs142843535	chr6:34037453-34037454	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs76938285	chr6:34037471-34037472	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs534688937	chr6:34037475-34037476	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs74686305	chr6:34037525-34037526	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs112246268	chr6:34037548-34037549	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs2499685	chr6:34037552-34037553	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs73410900	chr6:34037583-34037584	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs12525132	chr6:34037640-34037641	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs530805392	chr6:34037735-34037736	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs552300415	chr6:34037750-34037751	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs79697957	chr6:34037751-34037752	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs112945445	chr6:34037752-34037753	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs547135962	chr6:34037754-34037755	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs377142133	chr6:34037767-34037768	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs568680544	chr6:34037791-34037792	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs140155737	chr6:34037792-34037793	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs78860211	chr6:34037819-34037820	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs10947477	chr6:34037855-34037856	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs539434969	chr6:34037861-34037862	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs114481205	chr6:34037898-34037899	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs572943726	chr6:34037915-34037916	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs533771245	chr6:34037916-34037917	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs143920983	chr6:34037958-34037959	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs573864075	chr6:34037963-34037964	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs146836095	chr6:34037968-34037969	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs79481322	chr6:34037993-34037994	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs575263902	chr6:34038016-34038017	Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs375715455	chr6:34038026-34038027	Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs191664821	chr6:34038028-34038029	Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs80236590	chr6:34038029-34038030	Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34025000-34101800	Weak transcription	Right Atrium	heart
2	chr6:34025200-34039600	Weak transcription	Gastric	stomach
3	chr6:34027400-34066400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr6:34033800-34041400	Weak transcription	Fetal Brain Female	brain
5	chr6:34035800-34037800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:34036000-34037200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr6:34036000-34039200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:34036400-34038000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:34036600-34044800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:34036800-34038000	Enhancers	Fetal Brain Male	brain
11	chr6:34037000-34037800	Bivalent Enhancer	Fetal Muscle Leg	muscle
12	chr6:34037200-34038000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr6:34037600-34038000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:34037600-34038000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:34038000-34038800	Active TSS	Spleen	Spleen
16	chr6:34038000-34039000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:34038000-34039800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:34038000-34042400	Weak transcription	Fetal Heart	heart
19	chr6:34038200-34038800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr6:34038200-34039000	Weak transcription	Esophagus	oesophagus
21	chr6:34038400-34039200	Weak transcription	Pancreas	Pancrea
22	chr6:34038800-34039400	Weak transcription	Spleen	Spleen
23	chr6:34039000-34039800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr6:34039000-34040200	ZNF genes & repeats	Esophagus	oesophagus
25	chr6:34039000-34041000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:34039200-34039600	Active TSS	Fetal Lung	lung
27	chr6:34039200-34040400	Genic enhancers	Pancreas	Pancrea
28	chr6:34039200-34041000	ZNF genes & repeats	Fetal Kidney	kidney
29	chr6:34039200-34041200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:34039400-34039600	Genic enhancers	Spleen	Spleen
31	chr6:34039400-34041000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
32	chr6:34039600-34039800	Transcr. at gene 5' and 3'	Spleen	Spleen
33	chr6:34039600-34040400	ZNF genes & repeats	Fetal Lung	lung
34	chr6:34039600-34040800	ZNF genes & repeats	Gastric	stomach
35	chr6:34039800-34040000	Active TSS	Spleen	Spleen
36	chr6:34039800-34040800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr6:34040000-34040200	Genic enhancers	Spleen	Spleen
38	chr6:34040200-34041000	Enhancers	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links