Variant report

Variant	nsv395858
Chromosome Location	chr8:66637156-66639108
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	CEBPB	chr8:66637573-66637727	HepG2	liver:	n/a	n/a
2	E2F4	chr8:66637708-66637908	MCF10A-Er-Src	breast:	n/a	n/a
3	EP300	chr8:66637341-66637816	HepG2	liver:	n/a	n/a
4	FOS	chr8:66637495-66637748	MCF10A-Er-Src	breast:	n/a	chr8:66637578-66637590
5	FOS	chr8:66637548-66637785	MCF10A-Er-Src	breast:	n/a	chr8:66637578-66637590
6	FOS	chr8:66637589-66637716	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr8:66637593-66637666	MCF10A-Er-Src	breast:	n/a	n/a
8	FOXA1	chr8:66637257-66637787	HepG2	liver:	n/a	chr8:66637428-66637440
9	FOXA1	chr8:66637252-66637701	HepG2	liver:	n/a	chr8:66637428-66637440
10	FOXA1	chr8:66637344-66637684	HepG2	liver:	n/a	chr8:66637428-66637440
11	FOXA1	chr8:66637326-66637680	HepG2	liver:	n/a	chr8:66637428-66637440
12	FOXA2	chr8:66637330-66637693	HepG2	liver:	n/a	chr8:66637428-66637440
13	GATA3	chr8:66637020-66637217	SH-SY5Y	brain:	n/a	n/a
14	KAP1	chr8:66639077-66639576	K562	blood:	n/a	n/a
15	MYBL2	chr8:66637274-66637748	HepG2	liver:	n/a	n/a
16	NFIC	chr8:66637368-66637683	HepG2	liver:	n/a	n/a
17	POLR2A	chr8:66637933-66637959	GM12878	blood:	n/a	n/a
18	STAT3	chr8:66638409-66638430	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:66634454..66636931-chr8:66637677..66639411,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DNAJC5B-1	chr8:66637586-66637748	NONHSAT126995
2	lnc-PDE7A-2	chr8:66637395-66637441	ucscGeneNc_uc003xvk_1
3	lnc-DNAJC5B-1	chr8:66637551-66637835	NONHSAT126993

Variant related genes	Relation type
MTFR1	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368399778	chr8:66637206-66637207	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs3833687	chr8:66637214-66637215	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs564641409	chr8:66637249-66637250	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562895060	chr8:66637272-66637273	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs374327770	chr8:66637273-66637274	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs35302164	chr8:66637299-66637300	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs201868721	chr8:66637322-66637323	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs554838262	chr8:66637355-66637356	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs377230571	chr8:66637401-66637402	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs543593809	chr8:66637427-66637428	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs565251299	chr8:66637506-66637507	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs192898480	chr8:66637559-66637560	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs116420934	chr8:66637575-66637576	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs559661262	chr8:66637590-66637591	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs530110245	chr8:66637734-66637735	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs548528523	chr8:66637838-66637839	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575221977	chr8:66637858-66637859	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563556923	chr8:66637862-66637863	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530738230	chr8:66637869-66637870	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552318017	chr8:66637871-66637872	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544211761	chr8:66637878-66637879	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560759553	chr8:66637882-66637883	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs78780238	chr8:66637901-66637902	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373884157	chr8:66637933-66637934	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144154451	chr8:66637975-66637976	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546366934	chr8:66638005-66638006	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567763378	chr8:66638072-66638073	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560080589	chr8:66638093-66638094	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535061586	chr8:66638138-66638139	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577617008	chr8:66638175-66638176	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576294499	chr8:66638210-66638211	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs13439591	chr8:66638231-66638232	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537270034	chr8:66638259-66638260	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185098813	chr8:66638261-66638262	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551974477	chr8:66638420-66638421	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577279992	chr8:66638474-66638475	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs62507641	chr8:66638491-66638492	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs189110071	chr8:66638521-66638522	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76277884	chr8:66638560-66638561	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548797957	chr8:66638565-66638566	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142646443	chr8:66638574-66638575	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs3763512	chr8:66638608-66638609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542209627	chr8:66638613-66638614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563593730	chr8:66638632-66638633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376243151	chr8:66638639-66638640	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370645017	chr8:66638657-66638658	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191664191	chr8:66638669-66638670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78400840	chr8:66638715-66638716	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs869151	chr8:66638722-66638723	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs528270706	chr8:66638847-66638848	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Salivary gland tumor	18059337	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Adenoid cystic carcinoma	18332873	CNVD
early-passage human iPS cells	21368824	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:168 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66602800-66641800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:66602800-66650600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:66606600-66639400	Weak transcription	Fetal Heart	heart
4	chr8:66617600-66646200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:66620800-66648800	Weak transcription	Psoas Muscle	Psoas
6	chr8:66621400-66673000	Weak transcription	Colon Smooth Muscle	Colon
7	chr8:66624600-66661200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:66625600-66661400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr8:66626200-66652000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:66626200-66664600	Strong transcription	Fetal Thymus	thymus
11	chr8:66626400-66656600	Strong transcription	Primary T cells from cord blood	blood
12	chr8:66626600-66640400	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr8:66626600-66653600	Strong transcription	Primary B cells from peripheral blood	blood
14	chr8:66626600-66655600	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr8:66627200-66640400	Strong transcription	Left Ventricle	heart
16	chr8:66627200-66655000	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr8:66627400-66637600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr8:66627400-66640400	Strong transcription	Thymus	Thymus
19	chr8:66628000-66652000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr8:66628200-66640800	Strong transcription	Primary hematopoietic stem cells	blood
21	chr8:66628200-66660000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:66628200-66660200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:66628400-66637200	Strong transcription	GM12878-XiMat	blood
24	chr8:66628400-66637800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr8:66628400-66638000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr8:66628400-66638000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr8:66628400-66638000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr8:66628400-66640000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
29	chr8:66628400-66650200	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr8:66628400-66651600	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr8:66628400-66652400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr8:66628400-66652800	Strong transcription	Primary B cells from cord blood	blood
33	chr8:66628400-66663800	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr8:66628400-66666600	Strong transcription	Dnd41	blood
35	chr8:66630000-66638400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr8:66630400-66637800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
37	chr8:66630400-66639400	Strong transcription	Liver	Liver
38	chr8:66630600-66637200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr8:66630600-66637800	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr8:66630600-66638200	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr8:66630600-66646600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr8:66630800-66637600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:66631000-66637200	Strong transcription	HUVEC	blood vessel
44	chr8:66631000-66637600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:66631000-66638000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr8:66631000-66640000	Strong transcription	Duodenum Mucosa	Duodenum
47	chr8:66631000-66644600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:66631200-66641000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:66631200-66644600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr8:66631400-66647600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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