Variant report

Variant	esv1843658
Chromosome Location	chr8:66638738-66640711
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr8:66639587-66639771	MCF10A-Er-Src	breast:	n/a	n/a
2	KAP1	chr8:66639077-66639576	K562	blood:	n/a	n/a
3	MYC	chr8:66639805-66639997	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr8:66639486-66639780	GM12878	blood:	n/a	n/a
5	POLR2A	chr8:66639624-66639673	MCF-7	breast:	n/a	n/a
6	POLR2A	chr8:66640269-66640732	K562	blood:	n/a	n/a
7	POLR2A	chr8:66639527-66639877	K562	blood:	n/a	n/a
8	POLR2A	chr8:66639510-66639788	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr8:66639690-66639701	MCF-7	breast:	n/a	n/a
10	ZNF274	chr8:66639569-66639766	NT2-D1	testis:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

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

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARMC1-4	chr8:66639109-66639201	NONHSAT126996
2	lnc-ARMC1-4	chr8:66639405-66640392	NONHSAT126996
3	lnc-DNAJC5B-1	chr8:66640596-66640838	NONHSAT126995

No data

Variant related genes	Relation type
PDE7A	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528270706	chr8:66638847-66638848	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546702513	chr8:66638897-66638898	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184264827	chr8:66638916-66638917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535098608	chr8:66638974-66638975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188212826	chr8:66639005-66639006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368597355	chr8:66639059-66639060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200534094	chr8:66639131-66639132	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs544604547	chr8:66639136-66639137	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs558980021	chr8:66639189-66639190	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs199835248	chr8:66639216-66639217	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144980728	chr8:66639230-66639231	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369464826	chr8:66639238-66639239	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181000197	chr8:66639239-66639240	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371902232	chr8:66639310-66639311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187159131	chr8:66639335-66639336	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542245927	chr8:66639362-66639363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557351160	chr8:66639417-66639418	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs201465547	chr8:66639426-66639427	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs546126364	chr8:66639483-66639484	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs372447588	chr8:66639553-66639554	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs369122099	chr8:66639567-66639568	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs564203506	chr8:66639570-66639571	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs528323047	chr8:66639633-66639634	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs139641538	chr8:66639646-66639647	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs190437709	chr8:66639652-66639653	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs528909618	chr8:66639670-66639671	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs550172286	chr8:66639701-66639702	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs17395920	chr8:66639733-66639734	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs529404003	chr8:66639734-66639735	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs78163366	chr8:66639844-66639845	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs532790042	chr8:66639846-66639847	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs74862547	chr8:66639902-66639903	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs552864911	chr8:66639998-66639999	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs571019589	chr8:66640036-66640037	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs16932315	chr8:66640090-66640091	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs117545791	chr8:66640163-66640164	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs182151849	chr8:66640180-66640181	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs186828638	chr8:66640183-66640184	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs557485825	chr8:66640208-66640209	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs575622154	chr8:66640299-66640300	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs559741315	chr8:66640317-66640318	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs190582911	chr8:66640448-66640449	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs80346341	chr8:66640462-66640463	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs142588457	chr8:66640487-66640488	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs372056660	chr8:66640542-66640543	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs146894327	chr8:66640549-66640550	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs573026582	chr8:66640576-66640577	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs150954764	chr8:66640593-66640594	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs528676734	chr8:66640612-66640613	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs561506420	chr8:66640635-66640636	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	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	chr8:66627400-66640400	Strong transcription	Thymus	Thymus
18	chr8:66628000-66652000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr8:66628200-66640800	Strong transcription	Primary hematopoietic stem cells	blood
20	chr8:66628200-66660000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:66628200-66660200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:66628400-66640000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
23	chr8:66628400-66650200	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr8:66628400-66651600	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr8:66628400-66652400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:66628400-66652800	Strong transcription	Primary B cells from cord blood	blood
27	chr8:66628400-66663800	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr8:66628400-66666600	Strong transcription	Dnd41	blood
29	chr8:66630400-66639400	Strong transcription	Liver	Liver
30	chr8:66630600-66646600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:66631000-66640000	Strong transcription	Duodenum Mucosa	Duodenum
32	chr8:66631000-66644600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr8:66631200-66641000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:66631200-66644600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr8:66631400-66647600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr8:66631600-66639800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr8:66631600-66644400	Weak transcription	Stomach Mucosa	stomach
38	chr8:66632000-66640400	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr8:66633800-66653800	Weak transcription	K562	blood
40	chr8:66634800-66642000	Weak transcription	Aorta	Aorta
41	chr8:66635000-66648800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr8:66635200-66643200	Weak transcription	Osteobl	bone
43	chr8:66635200-66645200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr8:66635200-66645800	Weak transcription	Brain Angular Gyrus	brain
45	chr8:66635200-66646200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr8:66635200-66646400	Weak transcription	Brain Anterior Caudate	brain
47	chr8:66635200-66674000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr8:66635400-66639000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:66635400-66639000	Weak transcription	Right Ventricle	heart
50	chr8:66635400-66639400	Weak transcription	NHEK	skin

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