Variant report

Variant	nsv1025190
Chromosome Location	chr8:10756331-10802566
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:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:10772875..10774544-chr8:10783945..10785619,2	K562	blood:
2	chr8:10785773..10786613-chr8:10826278..10826960,2	MCF-7	breast:
3	chr8:10785658..10786600-chr8:10834375..10835298,4	MCF-7	breast:
4	chr8:10760620..10764608-chr8:10766304..10768558,3	K562	blood:
5	chr8:10776868..10778872-chr8:10780618..10782659,2	K562	blood:
6	chr8:10770919..10772954-chr8:10785860..10787582,2	K562	blood:
7	chr8:10787098..10789727-chr8:10819770..10822042,2	K562	blood:
8	chr8:10785842..10786445-chr8:11136734..11137559,2	MCF-7	breast:
9	chr8:10800953..10803714-chr8:10805735..10807983,2	K562	blood:
10	chr8:10696576..10697375-chr8:10786004..10786544,2	K562	blood:
11	chr8:10444778..10445703-chr8:10786032..10786596,2	MCF-7	breast:
12	chr8:10785251..10786661-chr8:10833873..10835317,10	K562	blood:
13	chr8:10772740..10774724-chr8:10885497..10887029,2	K562	blood:
14	chr8:10763108..10765386-chr8:10767058..10768941,2	K562	blood:
15	chr14:105714581..105715085-chr8:10799411..10799911,2	HCT-116	colon:
16	chr8:10712367..10714043-chr8:10772145..10774622,2	K562	blood:
17	chr8:10760620..10764608-chr8:10766304..10768558,3	K562	blood:
18	chr8:10763108..10765386-chr8:10767058..10768941,2	K562	blood:
19	chr8:10772724..10774931-chr8:11141877..11143411,2	K562	blood:
20	chr8:10785624..10786349-chr8:11136718..11137294,3	K562	blood:
21	chr8:10776868..10778872-chr8:10780618..10782659,2	K562	blood:
22	chr8:10785690..10786544-chr8:10913111..10914143,3	MCF-7	breast:
23	chr8:10784899..10786604-chr8:10834371..10835572,13	MCF-7	breast:
24	chr8:10772875..10774544-chr8:10783945..10785619,2	K562	blood:
25	chr8:10770919..10772954-chr8:10785860..10787582,2	K562	blood:
26	chr8:10752690..10756437-chr8:10759799..10762876,3	K562	blood:
27	chr8:10785719..10786553-chr8:10802895..10803663,2	K562	blood:
28	chr8:10785284..10786125-chr8:10873662..10874301,2	K562	blood:
29	chr8:10786051..10786569-chr8:10873648..10874515,2	MCF-7	breast:
30	chr8:10752690..10756437-chr8:10759799..10762876,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258724	chromatin interactions
ENSG00000104643	chromatin interactions
ENSG00000254093	chromatin interactions
ENSG00000184887	chromatin interactions
ENSG00000185024	chromatin interactions

Extended variants
information (count: 1896 )
Associated
traits (count: 139 )

Variant overlapped rSNPs/rCNVs (count:1896 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370681463	chr8:10756382-10756383	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs555687284	chr8:10756424-10756425	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs201055844	chr8:10756432-10756433	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs551904771	chr8:10756475-10756476	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs571723684	chr8:10756496-10756497	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs569200725	chr8:10756564-10756565	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs537452106	chr8:10756565-10756566	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs117025478	chr8:10756589-10756590	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs146491822	chr8:10756625-10756626	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs141065161	chr8:10756631-10756632	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs191324176	chr8:10756693-10756694	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs572942447	chr8:10756695-10756696	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs544749948	chr8:10756727-10756728	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs558232245	chr8:10756732-10756733	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs538008237	chr8:10756744-10756745	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs149747422	chr8:10756745-10756746	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs145703409	chr8:10756771-10756772	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs148940555	chr8:10756772-10756773	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs143696797	chr8:10756779-10756780	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs138427919	chr8:10756785-10756786	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs559945090	chr8:10756798-10756799	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs528701975	chr8:10756802-10756803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551964494	chr8:10756819-10756820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571786099	chr8:10756828-10756829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530999299	chr8:10756848-10756849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545984383	chr8:10756854-10756855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550981212	chr8:10756869-10756870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567536092	chr8:10756880-10756881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536588513	chr8:10756896-10756897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553478130	chr8:10756923-10756924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552988620	chr8:10756946-10756947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372454742	chr8:10756985-10756986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375146440	chr8:10757005-10757006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369285955	chr8:10757025-10757026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562051984	chr8:10757044-10757045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142452352	chr8:10757045-10757046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537523347	chr8:10757077-10757078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115955489	chr8:10757088-10757089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182476437	chr8:10757090-10757091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540181063	chr8:10757091-10757092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559806281	chr8:10757099-10757100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573544283	chr8:10757114-10757115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573145354	chr8:10757122-10757123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545640236	chr8:10757153-10757154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79557036	chr8:10757161-10757162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531062589	chr8:10757165-10757166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186754651	chr8:10757206-10757207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113054211	chr8:10757293-10757294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557008452	chr8:10757294-10757295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192545853	chr8:10757303-10757304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:139)

Disease	PMID	Source
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Gastric cancer	21811585	CNVD
Colorectal cancer	16774939	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:227 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10750800-10757200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr8:10753000-10763600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr8:10754200-10762000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr8:10755800-10756400	ZNF genes & repeats	Spleen	Spleen
5	chr8:10756000-10756400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
6	chr8:10756000-10756800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:10758800-10760200	Enhancers	Placenta	Placenta
8	chr8:10759200-10760000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:10760000-10761600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:10761000-10762200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr8:10761600-10762000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:10761600-10763000	Enhancers	Fetal Muscle Trunk	muscle
13	chr8:10761600-10763200	Enhancers	Fetal Muscle Leg	muscle
14	chr8:10761600-10765400	Weak transcription	Pancreas	Pancrea
15	chr8:10762000-10762400	Enhancers	Brain Angular Gyrus	brain
16	chr8:10762000-10762400	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
17	chr8:10762000-10762600	Bivalent Enhancer	Fetal Stomach	stomach
18	chr8:10762400-10763200	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr8:10762400-10778800	Weak transcription	Brain Angular Gyrus	brain
20	chr8:10762600-10763200	Enhancers	Fetal Stomach	stomach
21	chr8:10762600-10763200	Enhancers	HSMMtube	muscle
22	chr8:10762600-10763600	Enhancers	Fetal Brain Male	brain
23	chr8:10763600-10763800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr8:10763600-10764200	Enhancers	GM12878-XiMat	blood
25	chr8:10763600-10767000	Weak transcription	Fetal Brain Male	brain
26	chr8:10764200-10765400	Weak transcription	GM12878-XiMat	blood
27	chr8:10765400-10765800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:10765400-10765800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr8:10765400-10765800	ZNF genes & repeats	Pancreas	Pancrea
30	chr8:10765400-10765800	Enhancers	GM12878-XiMat	blood
31	chr8:10765800-10766200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:10765800-10766800	Weak transcription	GM12878-XiMat	blood
33	chr8:10765800-10770800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:10765800-10778400	Weak transcription	Pancreas	Pancrea
35	chr8:10766800-10767200	Enhancers	GM12878-XiMat	blood
36	chr8:10767000-10767600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:10767000-10768800	Enhancers	Fetal Brain Male	brain
38	chr8:10767200-10767800	Flanking Active TSS	GM12878-XiMat	blood
39	chr8:10767200-10768400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:10767800-10768600	Enhancers	GM12878-XiMat	blood
41	chr8:10768200-10768400	Enhancers	Fetal Muscle Trunk	muscle
42	chr8:10768200-10768600	Enhancers	Fetal Muscle Leg	muscle
43	chr8:10768400-10768600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:10768400-10768600	Enhancers	Gastric	stomach
45	chr8:10768600-10771400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr8:10770800-10771600	Enhancers	Placenta	Placenta
47	chr8:10770800-10772600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr8:10771000-10771800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr8:10771400-10771600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr8:10771400-10772800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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