Variant report

Variant	nsv970036
Chromosome Location	chr6:37876765-37894762
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	chr6:37892138-37892438	GM12878	blood:	n/a	n/a
2	BHLHE40	chr6:37892203-37892362	GM12878	blood:	n/a	n/a
3	CEBPB	chr6:37880000-37880203	HepG2	liver:	n/a	chr6:37880087-37880098
4	CEBPB	chr6:37887230-37887591	IMR90	lung:	n/a	n/a
5	CEBPB	chr6:37881040-37881281	IMR90	lung:	n/a	n/a
6	CEBPB	chr6:37884552-37884629	IMR90	lung:	n/a	n/a
7	CTCF	chr6:37880320-37880470	K562	blood:	n/a	n/a
8	CTCF	chr6:37885526-37885559	Kidney_OC	kidney:	n/a	n/a
9	CTCF	chr6:37889738-37889774	GM10266	blood:	n/a	n/a
10	CTCF	chr6:37879860-37880010	GM12872	blood:	n/a	n/a
11	E2F4	chr6:37880291-37880370	MCF10A-Er-Src	breast:	n/a	n/a
12	ELF1	chr6:37888471-37888758	HepG2	liver:	n/a	n/a
13	ELF1	chr6:37888520-37888782	HepG2	liver:	n/a	n/a
14	EP300	chr6:37892292-37892436	GM12878	blood:	n/a	n/a
15	FOS	chr6:37880915-37881411	MCF10A-Er-Src	breast:	n/a	chr6:37881214-37881225
16	FOS	chr6:37890486-37890756	MCF10A-Er-Src	breast:	n/a	chr6:37890620-37890631
17	FOS	chr6:37881024-37881336	MCF10A-Er-Src	breast:	n/a	chr6:37881214-37881225
18	FOS	chr6:37890359-37890788	HUVEC	blood vessel:	n/a	chr6:37890620-37890631
19	FOS	chr6:37881031-37881407	HUVEC	blood vessel:	n/a	chr6:37881214-37881225
20	FOS	chr6:37880987-37881445	MCF10A-Er-Src	breast:	n/a	chr6:37881214-37881225
21	FOS	chr6:37890467-37890760	MCF10A-Er-Src	breast:	n/a	chr6:37890620-37890631
22	FOS	chr6:37884479-37884800	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr6:37884540-37884701	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr6:37881003-37881392	MCF10A-Er-Src	breast:	n/a	chr6:37881214-37881225
25	FOS	chr6:37890448-37890783	MCF10A-Er-Src	breast:	n/a	chr6:37890620-37890631
26	FOS	chr6:37884496-37884816	MCF10A-Er-Src	breast:	n/a	n/a
27	FOSL2	chr6:37880986-37881457	SK-N-SH	brain:	n/a	n/a
28	FOXA1	chr6:37888501-37888729	T-47D	breast:	n/a	n/a
29	FOXA1	chr6:37888466-37888933	HepG2	liver:	n/a	n/a
30	FOXA1	chr6:37894004-37894370	HepG2	liver:	n/a	n/a
31	FOXA1	chr6:37888416-37888903	HepG2	liver:	n/a	n/a
32	FOXA1	chr6:37888459-37888918	HepG2	liver:	n/a	n/a
33	FOXA1	chr6:37888437-37888770	HepG2	liver:	n/a	n/a
34	FOXA2	chr6:37888525-37888759	A549	lung:	n/a	n/a
35	FOXA2	chr6:37888464-37888795	HepG2	liver:	n/a	n/a
36	FOXA2	chr6:37894148-37894384	HepG2	liver:	n/a	n/a
37	FOXA2	chr6:37888325-37889047	HepG2	liver:	n/a	n/a
38	GATA3	chr6:37880920-37881461	SK-N-SH	brain:	n/a	n/a
39	GATA3	chr6:37879286-37879424	SH-SY5Y	brain:	n/a	n/a
40	HDAC2	chr6:37888399-37888828	HepG2	liver:	n/a	n/a
41	JUND	chr6:37888510-37888773	HepG2	liver:	n/a	n/a
42	MAFK	chr6:37883311-37883539	IMR90	lung:	n/a	chr6:37883430-37883445
43	MAFK	chr6:37883287-37883549	HepG2	liver:	n/a	chr6:37883430-37883445
44	MAFK	chr6:37883264-37883565	HepG2	liver:	n/a	chr6:37883430-37883445
45	MAX	chr6:37884116-37884151	NB4	blood:	n/a	n/a
46	NANOG	chr6:37894493-37894722	H1-hESC	embryonic stem cell:	n/a	n/a
47	NFYB	chr6:37892392-37892626	GM12878	blood:	n/a	n/a
48	NRF1	chr6:37894452-37894470	HepG2	liver:	n/a	n/a
49	POLR2A	chr6:37881887-37881925	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr6:37891498-37891525	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:37873838..37876151-chr6:37878592..37881455,2	K562	blood:
2	chr6:37874214..37875957-chr6:37876729..37879670,2	K562	blood:
3	chr6:37891025..37896259-chr6:37902592..37905775,4	K562	blood:
4	chr6:37867448..37869643-chr6:37887668..37889578,2	K562	blood:
5	chr6:37867249..37869024-chr6:37880407..37882730,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MDGA1-4	chr6:37892679-37892752	l_3177_chr6:37892266-37894448_testes
2	lnc-MDGA1-4	chr6:37894332-37894448	l_3177_chr6:37892266-37894448_testes
3	lnc-MDGA1-4	chr6:37892267-37892671	l_3177_chr6:37892266-37894448_testes

Variant related genes	Relation type
RNU1-87P	TF binding region
ZFAND3	TF binding region

Extended variants
information (count: 687 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:687 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572964761	chr6:37876792-37876793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542277637	chr6:37876798-37876799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146670337	chr6:37876800-37876801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531062391	chr6:37876824-37876825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201897366	chr6:37876882-37876883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544184974	chr6:37876891-37876892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564182091	chr6:37876917-37876918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185371440	chr6:37876924-37876925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546890629	chr6:37876936-37876937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567013084	chr6:37876940-37876941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529478335	chr6:37876958-37876959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548238813	chr6:37876976-37876977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189978201	chr6:37877022-37877023	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs259673	chr6:37877036-37877037	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs142698620	chr6:37877053-37877054	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs368437309	chr6:37877066-37877067	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs13197310	chr6:37877067-37877068	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs183299095	chr6:37877094-37877095	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs111771206	chr6:37877114-37877115	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs259674	chr6:37877136-37877137	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs187648151	chr6:37877138-37877139	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs376715930	chr6:37877148-37877149	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs370384565	chr6:37877175-37877176	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs191419687	chr6:37877185-37877186	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs35494951	chr6:37877186-37877187	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs572967994	chr6:37877204-37877205	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs541637157	chr6:37877245-37877246	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs547681385	chr6:37877256-37877257	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs555571120	chr6:37877291-37877292	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs575641394	chr6:37877307-37877308	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs377316191	chr6:37877395-37877396	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs368213726	chr6:37877396-37877397	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs201183553	chr6:37877397-37877398	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs77126805	chr6:37877413-37877414	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544348231	chr6:37877445-37877446	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531967264	chr6:37877454-37877455	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375279946	chr6:37877455-37877456	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs201268832	chr6:37877456-37877457	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529238561	chr6:37877457-37877458	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564092128	chr6:37877459-37877460	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533163652	chr6:37877496-37877497	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183698969	chr6:37877507-37877508	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs369285003	chr6:37877574-37877575	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115600313	chr6:37877620-37877621	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs187874594	chr6:37877625-37877626	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs370381544	chr6:37877772-37877773	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs549294065	chr6:37877775-37877776	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs569473643	chr6:37877790-37877791	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs530618095	chr6:37877808-37877809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs259675	chr6:37877811-37877812	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:90)

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
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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	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
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Breast cancer	16397240	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:581 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37850600-37890400	Weak transcription	Primary B cells from cord blood	blood
2	chr6:37851000-37884600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:37857600-37886000	Weak transcription	Esophagus	oesophagus
4	chr6:37857600-37895400	Weak transcription	Pancreas	Pancrea
5	chr6:37858000-37877600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:37862000-37877000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:37862400-37877200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr6:37862400-37884000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr6:37862600-37882000	Weak transcription	Fetal Intestine Small	intestine
10	chr6:37862800-37879000	Weak transcription	GM12878-XiMat	blood
11	chr6:37864600-37880800	Weak transcription	NHDF-Ad	bronchial
12	chr6:37865600-37879600	Weak transcription	Thymus	Thymus
13	chr6:37866000-37885600	Weak transcription	Hela-S3	cervix
14	chr6:37869400-37877000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr6:37870200-37877200	Weak transcription	Left Ventricle	heart
16	chr6:37871400-37879400	Weak transcription	K562	blood
17	chr6:37872000-37887600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr6:37872000-37888200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:37872000-37890400	Weak transcription	Small Intestine	intestine
20	chr6:37872200-37883000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:37872200-37884000	Weak transcription	Adipose Nuclei	Adipose
22	chr6:37872200-37884600	Weak transcription	Fetal Kidney	kidney
23	chr6:37872400-37883000	Weak transcription	Brain Substantia Nigra	brain
24	chr6:37872600-37877200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:37872600-37877200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:37872600-37879600	Weak transcription	Psoas Muscle	Psoas
27	chr6:37872600-37885200	Weak transcription	HepG2	liver
28	chr6:37872600-37896400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr6:37872800-37878400	Weak transcription	Fetal Heart	heart
30	chr6:37872800-37880600	Weak transcription	HMEC	breast
31	chr6:37872800-37880800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:37873000-37882600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr6:37873200-37878400	Weak transcription	Colon Smooth Muscle	Colon
34	chr6:37873200-37887400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:37873400-37877200	Weak transcription	Liver	Liver
36	chr6:37873400-37929200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr6:37874000-37878400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr6:37874000-37888400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr6:37874200-37884600	Weak transcription	A549	lung
40	chr6:37874400-37877200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr6:37874400-37880800	Weak transcription	Osteobl	bone
42	chr6:37874400-37887600	Weak transcription	Spleen	Spleen
43	chr6:37874400-37888200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr6:37874600-37878000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr6:37874600-37880400	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr6:37874600-37903800	Weak transcription	Primary hematopoietic stem cells	blood
47	chr6:37874800-37881600	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr6:37875000-37880600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr6:37875400-37879600	Weak transcription	Right Ventricle	heart
50	chr6:37875400-37880200	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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