Variant report

Variant	nsv516033
Chromosome Location	chr8:10988275-10995060
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr8:10988390-10988806	GM12878	blood:	n/a	chr8:10988560-10988573
2	EP300	chr8:10992148-10992249	K562	blood:	n/a	n/a
3	GATA2	chr8:10994942-10995136	SH-SY5Y	brain:	n/a	chr8:10994980-10994990 chr8:10994983-10994990 chr8:10994983-10994990 chr8:10994983-10994990
4	IKZF1	chr8:10988620-10989005	GM12878	blood:	n/a	n/a
5	JUND	chr8:10988362-10988628	HepG2	liver:	n/a	chr8:10988478-10988487 chr8:10988486-10988495
6	PAX5	chr8:10989424-10989702	GM12878	blood:	n/a	n/a
7	POLR2A	chr8:10990782-10990921	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr8:10991503-10991685	GM12878	blood:	n/a	n/a
9	REST	chr8:10989513-10989603	GM12878	blood:	n/a	n/a
10	RUNX3	chr8:10994157-10994524	GM12878	blood:	n/a	n/a
11	RUNX3	chr8:10994136-10994798	GM12878	blood:	n/a	n/a
12	SPI1	chr8:10991331-10991672	GM12891	blood:	n/a	chr8:10991514-10991527
13	SPI1	chr8:10990477-10990900	GM12891	blood:	n/a	chr8:10990656-10990665
14	SPI1	chr8:10991299-10991653	GM12891	blood:	n/a	chr8:10991514-10991527
15	SPI1	chr8:10991391-10991597	GM12878	blood:	n/a	chr8:10991514-10991527
16	SPI1	chr8:10990519-10990992	GM12891	blood:	n/a	chr8:10990656-10990665
17	STAT3	chr8:10992340-10992538	MCF10A-Er-Src	breast:	n/a	n/a
18	STAT3	chr8:10994886-10995030	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10989309..10991277-chr8:11000364..11001975,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AF131215.4.1-1	chr8:10994408-10996117	ENSG00000254556.1

Variant related genes	Relation type
ENSG00000254936	TF binding region
ENSG00000215346	TF binding region

Extended variants
information (count: 429 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:429 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4841500	chr8:10988275-10988276	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs570924215	chr8:10988282-10988283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143942818	chr8:10988310-10988311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148644849	chr8:10988316-10988317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76955268	chr8:10988328-10988329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542147491	chr8:10988350-10988351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187842955	chr8:10988369-10988370	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs141255473	chr8:10988375-10988376	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs192624523	chr8:10988427-10988428	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs564557456	chr8:10988435-10988436	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs576504155	chr8:10988452-10988453	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs147414843	chr8:10988463-10988464	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs368697240	chr8:10988469-10988470	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs78717554	chr8:10988495-10988496	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs529942501	chr8:10988501-10988502	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs548185104	chr8:10988522-10988523	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs183185720	chr8:10988540-10988541	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs17152900	chr8:10988544-10988545	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs539232391	chr8:10988566-10988567	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs570861203	chr8:10988574-10988575	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs575513246	chr8:10988579-10988580	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs535079120	chr8:10988580-10988581	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs139677759	chr8:10988581-10988582	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs568556784	chr8:10988586-10988587	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs536072700	chr8:10988590-10988591	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs79495408	chr8:10988593-10988594	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs575863551	chr8:10988597-10988598	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs79467377	chr8:10988628-10988629	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs539769100	chr8:10988653-10988654	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs145273044	chr8:10988683-10988684	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs78496549	chr8:10988693-10988694	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs557051340	chr8:10988697-10988698	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs147647715	chr8:10988699-10988700	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs139675300	chr8:10988707-10988708	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs576739113	chr8:10988776-10988777	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs574525030	chr8:10988780-10988781	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs539090501	chr8:10988792-10988793	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs542041790	chr8:10988800-10988801	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs563359149	chr8:10988810-10988811	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs76152367	chr8:10988811-10988812	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs187509837	chr8:10988886-10988887	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs564463200	chr8:10988913-10988914	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs552810114	chr8:10988919-10988920	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs528539665	chr8:10988983-10988984	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs192893737	chr8:10989008-10989009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs13265553	chr8:10989057-10989058	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs184895896	chr8:10989079-10989080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376477569	chr8:10989081-10989082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564345685	chr8:10989106-10989107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543556668	chr8:10989109-10989110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:138)

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
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	21390130	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10966200-10999000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:10966400-11026200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:10982800-11003400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:10983000-11002000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr8:10983000-11003200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr8:10983200-10989400	Weak transcription	Pancreas	Pancrea
7	chr8:10983200-10991000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr8:10983200-10997000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr8:10983200-11001800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:10983400-10990800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr8:10983600-10990600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr8:10983600-10991000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr8:10984400-11000000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr8:10985400-10989600	Enhancers	GM12878-XiMat	blood
15	chr8:10986200-10994600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:10986400-10991000	Weak transcription	Spleen	Spleen
17	chr8:10986400-11002000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:10987200-10997000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:10989000-10992200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr8:10989400-10989600	Enhancers	Pancreas	Pancrea
21	chr8:10989600-10990600	Weak transcription	GM12878-XiMat	blood
22	chr8:10989600-11014200	Weak transcription	Pancreas	Pancrea
23	chr8:10990600-10992000	Enhancers	GM12878-XiMat	blood
24	chr8:10990600-10992200	Enhancers	Primary B cells from peripheral blood	blood
25	chr8:10990800-10991000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr8:10990800-10991000	Enhancers	Psoas Muscle	Psoas
27	chr8:10990800-10991600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr8:10990800-10991800	Enhancers	Left Ventricle	heart
29	chr8:10991000-10991200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr8:10991000-10991800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr8:10991000-10991800	Enhancers	Gastric	stomach
32	chr8:10991000-10991800	Enhancers	Spleen	Spleen
33	chr8:10991400-10991800	Enhancers	Right Ventricle	heart
34	chr8:10991600-10991800	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr8:10991600-10991800	Enhancers	Psoas Muscle	Psoas
36	chr8:10991600-10992200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:10991800-10996800	Weak transcription	Spleen	Spleen
38	chr8:10991800-10998800	Weak transcription	Gastric	stomach
39	chr8:10991800-11011800	Weak transcription	Left Ventricle	heart
40	chr8:10992800-11002000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr8:10994200-10994400	Enhancers	H9 Cell Line	embryonic stem cell
42	chr8:10994400-10994600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr8:10994400-10997000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr8:10994600-10994800	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr8:10994800-10997000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr8:10995000-10995600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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