Variant report

Variant	nsv891327
Chromosome Location	chr8:113828980-114109342
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:185653287..185655288-chr8:113877614..113879705,2	MCF-7	breast:
2	chr8:113982822..113985286-chr8:113988301..113991083,2	K562	blood:
3	chr8:113948637..113951504-chr8:113954981..113956955,2	K562	blood:
4	chr8:114107891..114109563-chr8:114112719..114115133,2	MCF-7	breast:
5	chr8:114079186..114080710-chr8:114084820..114087800,2	K562	blood:
6	chr8:113774348..113777140-chr8:114064225..114066718,2	K562	blood:
7	chr8:114019427..114021246-chr8:114025016..114027910,2	K562	blood:
8	chr8:114019427..114021246-chr8:114025016..114027910,2	K562	blood:
9	chr8:114054367..114057149-chr8:114057315..114060001,2	MCF-7	breast:
10	chr8:113982822..113985286-chr8:113988301..113991083,2	K562	blood:
11	chr8:114079186..114080710-chr8:114084820..114087800,2	K562	blood:
12	chr8:114054367..114057149-chr8:114057315..114060001,2	MCF-7	breast:
13	chr8:114086615..114089579-chr8:114091376..114092962,2	MCF-7	breast:
14	chr8:114086615..114089579-chr8:114091376..114092962,2	MCF-7	breast:
15	chr8:113948637..113951504-chr8:113954981..113956955,2	K562	blood:
16	chr8:113882423..113884756-chr8:114016772..114018870,2	K562	blood:
17	chr8:113882423..113884756-chr8:114016772..114018870,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000136527	chromatin interactions

Extended variants
information (count: 2729 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:2729 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2432743	chr8:113828980-113828981	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs200465363	chr8:113829036-113829037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs201164005	chr8:113829052-113829053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542816882	chr8:113829058-113829059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559604248	chr8:113829060-113829061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573038943	chr8:113829094-113829095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs16884117	chr8:113829096-113829097	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs111555751	chr8:113829119-113829120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs13276278	chr8:113829161-113829162	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs550168313	chr8:113829200-113829201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560601469	chr8:113829275-113829276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529759154	chr8:113829287-113829288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs180965500	chr8:113829300-113829301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565964960	chr8:113829301-113829302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs201041111	chr8:113829303-113829304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35124219	chr8:113829341-113829342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528780400	chr8:113829345-113829346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114495393	chr8:113829411-113829412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568918747	chr8:113829442-113829443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553577200	chr8:113829449-113829450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs231278	chr8:113829482-113829483	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs542526743	chr8:113829557-113829558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs16884126	chr8:113829591-113829592	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs539634877	chr8:113829621-113829622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138811668	chr8:113829637-113829638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs231279	chr8:113829642-113829643	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs553181707	chr8:113829675-113829676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140011627	chr8:113829680-113829681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35546379	chr8:113829681-113829682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs33986910	chr8:113829682-113829683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs59642233	chr8:113829683-113829684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573040264	chr8:113829731-113829732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190647197	chr8:113829773-113829774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182315922	chr8:113829795-113829796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575450482	chr8:113829796-113829797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs148968393	chr8:113829809-113829810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560563926	chr8:113829848-113829849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529722529	chr8:113829866-113829867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539988514	chr8:113829885-113829886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148174574	chr8:113829911-113829912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559685299	chr8:113829943-113829944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112417180	chr8:113829945-113829946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185818580	chr8:113829996-113829997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs10100915	chr8:113830019-113830020	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs531247921	chr8:113830044-113830045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs231280	chr8:113830058-113830059	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs138444001	chr8:113830059-113830060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536740985	chr8:113830127-113830128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553544732	chr8:113830163-113830164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10087978	chr8:113830164-113830165	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:106)

Disease	PMID	Source
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
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
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
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
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	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
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Schizophrenia	20967226	CNVD
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Gastric cancer	22014070	CNVD
Renal cell carcinoma	21215367	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:185 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113826200-113831200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:113826400-113830600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr8:113826400-113831200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:113826800-113830800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr8:113828000-113830000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:113828600-113830800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr8:113828600-113831200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:113830000-113832800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:113830600-113831200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr8:113830600-113831600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:113830600-113831600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:113830800-113831200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr8:113830800-113831400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr8:113831200-113831600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:113831200-113831600	Enhancers	H9 Cell Line	embryonic stem cell
16	chr8:113831200-113831600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:113831200-113831600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:113831400-113831600	Bivalent Enhancer	Pancreas	Pancrea
19	chr8:113832800-113834200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:113834000-113834600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
21	chr8:113834600-113835000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr8:113835000-113835200	Enhancers	H1 Cell Line	embryonic stem cell
23	chr8:113838400-113838600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:113838400-113838600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:113838400-113838600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr8:113838600-113838800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:113838600-113838800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:113838800-113855800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:113839600-113840000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:113841400-113841800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr8:113841400-113841800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr8:113841400-113841800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr8:113857400-113858000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr8:113858000-113858600	Enhancers	HUVEC	blood vessel
35	chr8:113859200-113860000	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr8:113859400-113859800	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr8:113865800-113866200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr8:113865800-113866400	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr8:113866000-113866400	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr8:113866000-113866400	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr8:113877200-113877600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:113877200-113877800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr8:113877200-113878400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr8:113878000-113878400	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr8:113889400-113891600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr8:113891400-113894000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:113891600-113891800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
48	chr8:113891600-113891800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:113891800-113892600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr8:113891800-113894600	Weak transcription	H1 Cell Line	embryonic stem cell

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