Variant report

Variant	nsv971656
Chromosome Location	chr8:59331826-59339206
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:59321855..59325054-chr8:59330526..59332610,3	MCF-7	breast:
2	chr8:59325247..59326918-chr8:59332690..59334959,2	K562	blood:
3	chr8:59323416..59326297-chr8:59327025..59332667,5	K562	blood:
4	chr8:59326851..59328601-chr8:59330352..59332421,2	MCF-7	breast:
5	chr8:59323970..59326918-chr8:59333459..59336402,2	K562	blood:
6	chr8:59330587..59332964-chr8:59341422..59343603,3	K562	blood:
7	chr8:59330587..59332964-chr8:59341646..59343603,2	K562	blood:
8	chr8:59328806..59331262-chr8:59332936..59335441,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CYP7A1-5	chr8:59334802-59335137	l_3605_chr8:59334565-59347370_testes
2	lnc-CYP7A1-5	chr8:59334566-59334777	l_3605_chr8:59334565-59347370_testes

No data

Variant related genes	Relation type
ENSG00000215114	chromatin interactions

Extended variants
information (count: 334 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:334 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377101518	chr8:59331827-59331828	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs534516150	chr8:59331859-59331860	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs141016193	chr8:59331906-59331907	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs144951026	chr8:59331921-59331922	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs576458417	chr8:59331978-59331979	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs556662628	chr8:59331981-59331982	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs576449651	chr8:59331985-59331986	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs13271316	chr8:59331989-59331990	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs572183876	chr8:59331994-59331995	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs561736175	chr8:59332005-59332006	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs571875295	chr8:59332035-59332036	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs540962702	chr8:59332036-59332037	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs115375259	chr8:59332060-59332061	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs532812504	chr8:59332069-59332070	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs62512909	chr8:59332121-59332122	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs563258154	chr8:59332142-59332143	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs528985711	chr8:59332223-59332224	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs549036949	chr8:59332269-59332270	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs185395136	chr8:59332286-59332287	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs78959420	chr8:59332306-59332307	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs189925634	chr8:59332330-59332331	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs370533900	chr8:59332332-59332333	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs539881212	chr8:59332347-59332348	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs576728728	chr8:59332370-59332371	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs147452386	chr8:59332382-59332383	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs74697834	chr8:59332393-59332394	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs543735557	chr8:59332406-59332407	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs545767595	chr8:59332460-59332461	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs535592400	chr8:59332501-59332502	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs563317939	chr8:59332522-59332523	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs368470827	chr8:59332536-59332537	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs191845387	chr8:59332560-59332561	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs555814904	chr8:59332566-59332567	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs117808026	chr8:59332567-59332568	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs183976036	chr8:59332655-59332656	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs557673441	chr8:59332689-59332690	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6982486	chr8:59332694-59332695	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs80220161	chr8:59332726-59332727	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563161873	chr8:59332780-59332781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139833462	chr8:59332788-59332789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542390479	chr8:59332797-59332798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188354153	chr8:59332822-59332823	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559375334	chr8:59332825-59332826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527933682	chr8:59332866-59332867	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547999902	chr8:59332911-59332912	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571016315	chr8:59332923-59332924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542200405	chr8:59332945-59332946	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs550421156	chr8:59332959-59332960	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs77611703	chr8:59332965-59332966	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs569984409	chr8:59333026-59333027	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
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
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16461572	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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD

Chromatin state (count:351 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59324400-59335400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:59324400-59335600	Weak transcription	Spleen	Spleen
3	chr8:59324400-59337200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:59324400-59341800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:59324600-59332000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:59324600-59335000	Weak transcription	Fetal Muscle Leg	muscle
7	chr8:59324600-59335400	Weak transcription	Left Ventricle	heart
8	chr8:59324600-59335600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:59324600-59337400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr8:59324600-59339200	Weak transcription	Esophagus	oesophagus
11	chr8:59324800-59333600	Weak transcription	NHDF-Ad	bronchial
12	chr8:59324800-59337400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:59324800-59337400	Weak transcription	Fetal Stomach	stomach
14	chr8:59324800-59352000	Weak transcription	HSMMtube	muscle
15	chr8:59324800-59362000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:59325000-59332400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:59325000-59335600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr8:59325000-59335600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:59325000-59336400	Weak transcription	Osteobl	bone
20	chr8:59325000-59348800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:59325000-59352600	Weak transcription	Fetal Kidney	kidney
22	chr8:59325000-59357600	Weak transcription	NHLF	lung
23	chr8:59325000-59360000	Weak transcription	Right Ventricle	heart
24	chr8:59325000-59361200	Weak transcription	Psoas Muscle	Psoas
25	chr8:59325200-59333400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr8:59325200-59333600	Weak transcription	HMEC	breast
27	chr8:59325200-59333800	Weak transcription	NH-A	brain
28	chr8:59325200-59334200	Weak transcription	A549	lung
29	chr8:59325200-59334800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:59325200-59334800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr8:59325200-59335000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr8:59325200-59335200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:59325200-59335600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:59325200-59335800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr8:59325200-59338200	Weak transcription	Ovary	ovary
36	chr8:59325200-59338200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr8:59325200-59339200	Weak transcription	Colon Smooth Muscle	Colon
38	chr8:59325200-59351200	Weak transcription	K562	blood
39	chr8:59325200-59370800	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr8:59325400-59334000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:59325400-59334800	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr8:59325400-59335000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr8:59325400-59335400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr8:59325400-59337200	Weak transcription	Aorta	Aorta
45	chr8:59325400-59337400	Weak transcription	Brain Anterior Caudate	brain
46	chr8:59325400-59337600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr8:59325400-59349000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:59325400-59351400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr8:59325600-59335200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr8:59325600-59335400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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