Variant report

Variant	nsv527031
Chromosome Location	chr8:104320928-104333838
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:104326694..104328963-chr8:104333023..104334724,2	MCF-7	breast:
2	chr8:104332978..104337328-chr8:104338203..104342176,5	K562	blood:
3	chr8:104332096..104335795-chr8:104338249..104342191,4	MCF-7	breast:
4	chr8:104327755..104331504-chr8:104332133..104335041,3	K562	blood:
5	chr8:104318712..104321595-chr8:104330139..104332072,2	MCF-7	breast:
6	chr8:104327755..104331504-chr8:104332133..104335041,3	K562	blood:
7	chr8:104309203..104312760-chr8:104317992..104322256,6	MCF-7	breast:
8	chr8:104333812..104335583-chr8:104335809..104337466,2	MCF-7	breast:
9	chr8:104318712..104321595-chr8:104330139..104332072,2	MCF-7	breast:
10	chr8:104310098..104313493-chr8:104328757..104332596,5	MCF-7	breast:
11	chr8:104309684..104313119-chr8:104328267..104333017,4	MCF-7	breast:
12	chr8:104311061..104313382-chr8:104326757..104328260,2	MCF-7	breast:
13	chr8:104310252..104312165-chr8:104323471..104325157,2	MCF-7	breast:
14	chr8:104331335..104334252-chr8:104345911..104348093,2	MCF-7	breast:
15	chr8:104326694..104328963-chr8:104333023..104334724,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000247081	chromatin interactions
ENSG00000164930	chromatin interactions

Extended variants
information (count: 386 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:386 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs703808	chr8:104320928-104320929	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs368063183	chr8:104320943-104320944	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs371883491	chr8:104320970-104320971	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs148828389	chr8:104320976-104320977	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs186686102	chr8:104321076-104321077	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs565997933	chr8:104321103-104321104	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs552290710	chr8:104321183-104321184	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs368710058	chr8:104321187-104321188	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs191938057	chr8:104321206-104321207	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs558044500	chr8:104321209-104321210	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs576621254	chr8:104321216-104321217	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs182856068	chr8:104321286-104321287	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs703809	chr8:104321313-104321314	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs79237321	chr8:104321314-104321315	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs73699761	chr8:104321317-104321318	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs561114830	chr8:104321364-104321365	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs559803577	chr8:104321466-104321467	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs527569139	chr8:104321482-104321483	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs370229410	chr8:104321551-104321552	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs554019950	chr8:104321601-104321602	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs187030077	chr8:104321627-104321628	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs191127600	chr8:104321651-104321652	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs148015142	chr8:104321688-104321689	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs182179171	chr8:104321733-104321734	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs368725258	chr8:104321774-104321775	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs528970909	chr8:104321788-104321789	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs546972488	chr8:104321990-104321991	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs565362318	chr8:104321996-104321997	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs3116468	chr8:104321999-104322000	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs375768170	chr8:104322002-104322003	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs116594463	chr8:104322084-104322085	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs573922164	chr8:104322093-104322094	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs73284001	chr8:104322150-104322151	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs537608033	chr8:104322175-104322176	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs556020728	chr8:104322178-104322179	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs3808559	chr8:104322186-104322187	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs827537	chr8:104322247-104322248	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs186823870	chr8:104322275-104322276	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs193062641	chr8:104322292-104322293	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545770179	chr8:104322355-104322356	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564358835	chr8:104322374-104322375	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370063196	chr8:104322433-104322434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185833751	chr8:104322443-104322444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541092492	chr8:104322514-104322515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71575960	chr8:104322533-104322534	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs57931440	chr8:104322534-104322535	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543179140	chr8:104322608-104322609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566102957	chr8:104322620-104322621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561580749	chr8:104322659-104322660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115650608	chr8:104322665-104322666	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

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
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	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
abnormal development	18461090	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
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
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
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	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
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	17260012	CNVD
Sezary syndrome	18413736	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104311600-104343600	Weak transcription	Spleen	Spleen
2	chr8:104311800-104321200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:104311800-104327800	Weak transcription	Pancreas	Pancrea
4	chr8:104311800-104331200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr8:104311800-104331400	Weak transcription	Liver	Liver
6	chr8:104311800-104331400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr8:104311800-104343600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:104312000-104326600	Weak transcription	Gastric	stomach
9	chr8:104312000-104337200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr8:104312000-104337200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr8:104312000-104343800	Weak transcription	Small Intestine	intestine
12	chr8:104312000-104348400	Weak transcription	Thymus	Thymus
13	chr8:104312000-104350200	Weak transcription	Esophagus	oesophagus
14	chr8:104312200-104337200	Weak transcription	Brain Anterior Caudate	brain
15	chr8:104312200-104337800	Weak transcription	Primary T cells from cord blood	blood
16	chr8:104312200-104339000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:104312400-104331400	Weak transcription	Fetal Stomach	stomach
18	chr8:104312400-104332600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr8:104312400-104345000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr8:104312400-104345000	Weak transcription	Right Ventricle	heart
21	chr8:104312400-104350000	Weak transcription	Lung	lung
22	chr8:104312600-104327400	Weak transcription	A549	lung
23	chr8:104312600-104337200	Weak transcription	Brain Angular Gyrus	brain
24	chr8:104312600-104342400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr8:104312600-104344800	Weak transcription	Fetal Intestine Small	intestine
26	chr8:104312600-104350000	Weak transcription	Colon Smooth Muscle	Colon
27	chr8:104312800-104322000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr8:104313200-104327600	Weak transcription	HepG2	liver
29	chr8:104313200-104336800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr8:104315000-104321200	Weak transcription	Primary B cells from cord blood	blood
31	chr8:104317200-104328200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:104317400-104354000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr8:104317600-104345800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr8:104317800-104323800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr8:104317800-104331200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr8:104318000-104323400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr8:104318000-104323600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:104318000-104333800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:104318000-104345200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr8:104318200-104323600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:104318200-104328000	Weak transcription	Fetal Heart	heart
42	chr8:104318200-104342600	Weak transcription	Brain Substantia Nigra	brain
43	chr8:104318600-104343400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr8:104318800-104321000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr8:104319000-104321000	Genic enhancers	NHDF-Ad	bronchial
46	chr8:104319000-104321200	Strong transcription	Primary hematopoietic stem cells	blood
47	chr8:104319000-104321200	Strong transcription	Fetal Thymus	thymus
48	chr8:104319000-104321400	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr8:104319000-104322000	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr8:104319000-104322800	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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