Variant report

Variant	nsv515946
Chromosome Location	chr8:10689491-10691993
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	CTCF	chr8:10691217-10691247	Kidney_OC	kidney:	n/a	n/a
2	E2F4	chr8:10689744-10690215	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:10687146..10690339-chr8:10690695..10692954,3	K562	blood:
2	chr8:10687146..10690339-chr8:10690695..10692954,3	K562	blood:
3	chr8:10690421..10694581-chr8:10695821..10698975,5	MCF-7	breast:
4	chr8:10683001..10685748-chr8:10686026..10689497,3	K562	blood:
5	chr8:10687156..10690707-chr8:10693616..10698468,7	K562	blood:

Variant related genes	Relation type
PINX1	TF binding region
ENSG00000253695	chromatin interactions
ENSG00000254093	chromatin interactions
ENSG00000258724	chromatin interactions

Extended variants
information (count: 170 )
Associated
traits (count: 139 )

Variant overlapped rSNPs/rCNVs (count:170 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6992312	chr8:10689491-10689492	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73209903	chr8:10689508-10689509	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs147065127	chr8:10689533-10689534	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs184738631	chr8:10689553-10689554	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs373308976	chr8:10689560-10689561	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs6992366	chr8:10689561-10689562	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs138470683	chr8:10689567-10689568	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs555205905	chr8:10689605-10689606	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs575046839	chr8:10689626-10689627	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs542144415	chr8:10689629-10689630	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs189163107	chr8:10689631-10689632	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs11776674	chr8:10689632-10689633	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs563945817	chr8:10689636-10689637	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs35581810	chr8:10689643-10689644	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs374510114	chr8:10689648-10689649	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs6988598	chr8:10689678-10689679	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs79507966	chr8:10689714-10689715	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs532996267	chr8:10689719-10689720	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs144043334	chr8:10689728-10689729	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs569299513	chr8:10689771-10689772	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs186690439	chr8:10689792-10689793	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs368528240	chr8:10689799-10689800	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs548451564	chr8:10689803-10689804	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs568381035	chr8:10689807-10689808	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs114160987	chr8:10689810-10689811	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs554296819	chr8:10689811-10689812	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs577277994	chr8:10689875-10689876	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs569701130	chr8:10689876-10689877	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs371083735	chr8:10689904-10689905	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs532120734	chr8:10689906-10689907	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs552172542	chr8:10689992-10689993	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs556644415	chr8:10690054-10690055	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs80289332	chr8:10690076-10690077	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs150687228	chr8:10690093-10690094	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs559442887	chr8:10690108-10690109	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs542459329	chr8:10690118-10690119	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs6993121	chr8:10690124-10690125	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs140025947	chr8:10690170-10690171	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs149435790	chr8:10690183-10690184	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs532924849	chr8:10690212-10690213	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs376745132	chr8:10690219-10690220	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs543500198	chr8:10690220-10690221	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs143858758	chr8:10690221-10690222	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs528874560	chr8:10690222-10690223	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs2292371	chr8:10690244-10690245	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs568418054	chr8:10690245-10690246	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs148612983	chr8:10690262-10690263	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs567927576	chr8:10690267-10690268	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs547716904	chr8:10690279-10690280	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs571024031	chr8:10690284-10690285	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	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
Autism	20531469	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:181 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10663000-10696200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:10666400-10695200	Strong transcription	Primary T cells from cord blood	blood
3	chr8:10666800-10692400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:10667600-10693200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:10668400-10696200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:10669200-10692800	Strong transcription	Primary B cells from cord blood	blood
7	chr8:10669400-10692200	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr8:10669600-10691800	Strong transcription	GM12878-XiMat	blood
9	chr8:10669600-10692800	Strong transcription	Primary T helper cells PMA-I stimulated	--
10	chr8:10670200-10692000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr8:10670400-10692800	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr8:10671400-10692000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:10673000-10692000	Strong transcription	Primary B cells from peripheral blood	blood
14	chr8:10673200-10692200	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr8:10673200-10692400	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr8:10673800-10692000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr8:10674000-10690200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr8:10674400-10692000	Strong transcription	Stomach Smooth Muscle	stomach
19	chr8:10674400-10692800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr8:10674600-10692000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:10674600-10692000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:10674600-10692000	Strong transcription	Fetal Muscle Leg	muscle
23	chr8:10674600-10692200	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr8:10674600-10692200	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr8:10674600-10693200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr8:10674800-10696200	Weak transcription	Stomach Mucosa	stomach
27	chr8:10675000-10693000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr8:10676200-10696200	Weak transcription	Fetal Heart	heart
29	chr8:10677200-10692400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:10677200-10692400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr8:10677200-10692400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:10678400-10692000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr8:10678400-10692200	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr8:10678400-10692800	Strong transcription	Fetal Muscle Trunk	muscle
35	chr8:10678600-10692400	Strong transcription	Left Ventricle	heart
36	chr8:10678800-10692400	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr8:10679200-10693000	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr8:10679600-10691000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:10679600-10692000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:10680400-10692000	Strong transcription	Adipose Nuclei	Adipose
41	chr8:10680400-10692000	Strong transcription	Fetal Intestine Large	intestine
42	chr8:10680400-10692200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:10680400-10692800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr8:10680400-10692800	Strong transcription	Duodenum Mucosa	Duodenum
45	chr8:10680400-10692800	Strong transcription	Dnd41	blood
46	chr8:10680600-10691000	Strong transcription	H9 Cell Line	embryonic stem cell
47	chr8:10680600-10691000	Strong transcription	HSMMtube	muscle
48	chr8:10680600-10691800	Strong transcription	Lung	lung
49	chr8:10680600-10692200	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr8:10680600-10692400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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