Variant report

Variant	nsv470234
Chromosome Location	chr8:119856209-119906530
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:37)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:119853627..119856259-chr8:119859554..119862069,2	MCF-7	breast:
2	chr8:119874098..119875081-chr8:119890625..119891353,4	MCF-7	breast:
3	chr8:119890957..119892807-chr8:119894460..119897666,3	K562	blood:
4	chr8:119886218..119887963-chr8:119888268..119891082,2	MCF-7	breast:
5	chr8:119875843..119876422-chr8:119890324..119891255,2	MCF-7	breast:
6	chr8:119861917..119862873-chrX:153656524..153657064,2	MCF-7	breast:
7	chr8:119858350..119859934-chr8:119861282..119863440,2	MCF-7	breast:
8	chr8:119862765..119865720-chr8:119873714..119876023,2	MCF-7	breast:
9	chr8:119853627..119856259-chr8:119859554..119862069,2	MCF-7	breast:
10	chr8:119849810..119851338-chr8:119853375..119856284,2	MCF-7	breast:
11	chr8:119824076..119824696-chr8:119890843..119891698,2	MCF-7	breast:
12	chr8:119858350..119859934-chr8:119861282..119863440,2	MCF-7	breast:
13	chr8:119873937..119876424-chr8:119878848..119881017,4	MCF-7	breast:
14	chr8:119873937..119876424-chr8:119878848..119881017,4	MCF-7	breast:
15	chr8:119872555..119876115-chr8:119889180..119893027,6	MCF-7	breast:
16	chr8:119854729..119856994-chr8:119963399..119965600,2	MCF-7	breast:
17	chr8:119858424..119862696-chr8:119871744..119874668,4	MCF-7	breast:
18	chr8:119897848..119900046-chr8:119910331..119912294,2	MCF-7	breast:
19	chr8:119874098..119875081-chr8:119890625..119891353,4	MCF-7	breast:
20	chr8:119862765..119865720-chr8:119873714..119876023,2	MCF-7	breast:
21	chr8:119901946..119903477-chr8:119908187..119910521,2	MCF-7	breast:
22	chr8:119890957..119892807-chr8:119894460..119897666,3	K562	blood:
23	chr8:119873726..119875943-chr8:119888839..119890975,3	MCF-7	breast:
24	chr8:119858424..119862696-chr8:119871744..119874668,4	MCF-7	breast:
25	chr8:119890715..119891617-chr8:119908895..119909909,3	MCF-7	breast:
26	chr7:54629938..54631770-chr8:119860208..119862644,2	MCF-7	breast:
27	chr8:119887309..119888948-chr8:119953395..119955293,2	MCF-7	breast:
28	chr8:119807404..119808990-chr8:119888408..119891375,2	MCF-7	breast:
29	chr8:119884867..119886696-chr8:120073513..120075509,2	MCF-7	breast:
30	chr8:119875843..119876422-chr8:119890324..119891255,2	MCF-7	breast:
31	chr8:119870985..119873020-chr8:119885150..119887019,2	MCF-7	breast:
32	chr8:119872807..119875154-chr8:119954620..119956475,2	MCF-7	breast:
33	chr8:119886218..119887963-chr8:119888268..119891082,2	MCF-7	breast:
34	chr8:119878339..119879867-chr8:119964065..119966152,2	MCF-7	breast:
35	chr8:119872555..119876115-chr8:119889180..119893027,6	MCF-7	breast:
36	chr8:119873726..119875943-chr8:119888839..119890975,3	MCF-7	breast:
37	chr8:119870985..119873020-chr8:119885150..119887019,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000197180	chromatin interactions
ENSG00000164761	chromatin interactions
ENSG00000071553	chromatin interactions

Extended variants
information (count: 1571 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:1571 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3134086	chr8:119856209-119856210	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs377069624	chr8:119856211-119856212	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs138903742	chr8:119856214-119856215	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs184906452	chr8:119856221-119856222	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs549825246	chr8:119856227-119856228	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs565079411	chr8:119856295-119856296	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs539424736	chr8:119856309-119856310	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs73709019	chr8:119856317-119856318	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs142726151	chr8:119856372-119856373	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs544056763	chr8:119856481-119856482	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs566348913	chr8:119856537-119856538	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs189982793	chr8:119856564-119856565	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs548883608	chr8:119856578-119856579	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs147380750	chr8:119856621-119856622	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs537651509	chr8:119856625-119856626	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs558673374	chr8:119856642-119856643	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs182157934	chr8:119856672-119856673	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs74892483	chr8:119856765-119856766	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs552661794	chr8:119856769-119856770	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs574397400	chr8:119856846-119856847	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs185497983	chr8:119856880-119856881	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs375379287	chr8:119856922-119856923	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs532694735	chr8:119857038-119857039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563612422	chr8:119857087-119857088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs3133589	chr8:119857109-119857110	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs545641453	chr8:119857110-119857111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565018187	chr8:119857111-119857112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113075322	chr8:119857113-119857114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547884388	chr8:119857116-119857117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189437566	chr8:119857121-119857122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558382448	chr8:119857123-119857124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530109149	chr8:119857131-119857132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113501119	chr8:119857136-119857137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143398328	chr8:119857149-119857150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs367762973	chr8:119857155-119857156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181952604	chr8:119857178-119857179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552830050	chr8:119857179-119857180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570544816	chr8:119857188-119857189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184942410	chr8:119857199-119857200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143895006	chr8:119857211-119857212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567925097	chr8:119857245-119857246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148681686	chr8:119857246-119857247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375370935	chr8:119857250-119857251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553005384	chr8:119857296-119857297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568373887	chr8:119857302-119857303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374235453	chr8:119857310-119857311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111359521	chr8:119857332-119857333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150759832	chr8:119857334-119857335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139153468	chr8:119857342-119857343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189748425	chr8:119857345-119857346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:137)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	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
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	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	18698023	CNVD
Multiple myeloma	16461302	CNVD
Uveal melanoma	20484589	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Breast cancer	19181860	CNVD
Endometrial cancer	23636398	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Oral squamous cell carcinoma	21853135	CNVD

Chromatin state (count:384 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119854800-119857200	Enhancers	Hela-S3	cervix
2	chr8:119855000-119856800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:119855000-119856800	Enhancers	NHLF	lung
4	chr8:119855000-119857000	Enhancers	HMEC	breast
5	chr8:119855200-119857000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:119855400-119856400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:119855400-119856800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:119855400-119856800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:119855400-119856800	Enhancers	NHEK	skin
10	chr8:119855400-119857000	Enhancers	NH-A	brain
11	chr8:119855600-119856800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:119855600-119856800	Enhancers	HSMM	muscle
13	chr8:119855600-119856800	Enhancers	Osteobl	bone
14	chr8:119855600-119857000	Enhancers	NHDF-Ad	bronchial
15	chr8:119855800-119856600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr8:119855800-119856600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:119856000-119856600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:119856000-119856800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:119856200-119856600	Enhancers	HSMMtube	muscle
20	chr8:119856200-119856800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:119856200-119856800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:119856400-119857200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:119856600-119861200	Weak transcription	HSMMtube	muscle
24	chr8:119856600-119862200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:119856600-119862400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr8:119856800-119857000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:119856800-119858000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:119856800-119858400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:119856800-119858400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:119856800-119858400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:119856800-119858400	Weak transcription	HSMM	muscle
32	chr8:119856800-119858600	Weak transcription	Osteobl	bone
33	chr8:119856800-119861800	Weak transcription	NHEK	skin
34	chr8:119856800-119862000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:119856800-119862200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr8:119857000-119857600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:119857000-119858000	Weak transcription	NH-A	brain
38	chr8:119857000-119858400	Weak transcription	NHDF-Ad	bronchial
39	chr8:119857000-119861800	Weak transcription	HMEC	breast
40	chr8:119857000-119862000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr8:119857200-119858200	Weak transcription	Hela-S3	cervix
42	chr8:119857200-119858400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr8:119857600-119859000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:119858000-119858200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:119858200-119858600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:119858200-119862000	Enhancers	Hela-S3	cervix
47	chr8:119858400-119858600	ZNF genes & repeats	HSMM	muscle
48	chr8:119858400-119858800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:119858400-119859000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:119858400-119859000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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