Variant report

Variant	nsv1030977
Chromosome Location	chr8:8725992-8739514
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:8726269..8728991-chr8:8747261..8749561,2	K562	blood:
2	chr8:8729141..8730774-chr8:8738935..8740883,2	MCF-7	breast:
3	chr8:8716471..8722141-chr8:8722765..8728048,6	K562	blood:
4	chr8:8733559..8735231-chr8:8736317..8738826,2	MCF-7	breast:
5	chr8:8733314..8736061-chr8:8749397..8752157,3	MCF-7	breast:
6	chr8:8738833..8741293-chr8:8745302..8747462,3	K562	blood:
7	chr8:8728731..8732330-chr8:8733587..8735622,3	K562	blood:
8	chr8:8738158..8739916-chr8:8748623..8751387,2	MCF-7	breast:
9	chr8:8715810..8717971-chr8:8724783..8726662,2	K562	blood:
10	chr8:8718079..8719809-chr8:8729867..8732663,2	K562	blood:
11	chr8:8729141..8730774-chr8:8738935..8740883,2	MCF-7	breast:
12	chr8:8733559..8735231-chr8:8736317..8738826,2	MCF-7	breast:
13	chr8:8728731..8732330-chr8:8733587..8735622,3	K562	blood:
14	chr8:8733670..8736303-chr8:8745304..8747711,2	K562	blood:
15	chr8:8736985..8740152-chr8:8748515..8752474,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000147324	chromatin interactions

Extended variants
information (count: 753 )
Associated
traits (count: 140 )

Variant overlapped rSNPs/rCNVs (count:753 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs58169490	chr8:8726009-8726010	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184271650	chr8:8726038-8726039	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs571769697	chr8:8726074-8726075	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs541928322	chr8:8726080-8726081	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs537635322	chr8:8726084-8726085	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs189033670	chr8:8726087-8726088	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs555831004	chr8:8726119-8726120	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs369291935	chr8:8726166-8726167	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs181047976	chr8:8726179-8726180	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs377150011	chr8:8726231-8726232	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs562738468	chr8:8726237-8726238	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs542924863	chr8:8726245-8726246	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs560456256	chr8:8726289-8726290	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs186348175	chr8:8726303-8726304	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs572466461	chr8:8726309-8726310	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs191605052	chr8:8726387-8726388	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs575705073	chr8:8726392-8726393	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs564635099	chr8:8726447-8726448	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs530559940	chr8:8726448-8726449	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs544378659	chr8:8726486-8726487	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs560952350	chr8:8726497-8726498	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs370846885	chr8:8726502-8726503	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs372604265	chr8:8726537-8726538	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs11998339	chr8:8726546-8726547	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs376959753	chr8:8726577-8726578	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs73524009	chr8:8726583-8726584	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs528446316	chr8:8726599-8726600	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs551843279	chr8:8726628-8726629	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs571757250	chr8:8726644-8726645	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs537180426	chr8:8726684-8726685	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs374192156	chr8:8726690-8726691	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs150558613	chr8:8726708-8726709	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs1567398	chr8:8726804-8726805	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs536863777	chr8:8726817-8726818	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs73190097	chr8:8726837-8726838	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs140431315	chr8:8726878-8726879	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs538238726	chr8:8726914-8726915	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs576179455	chr8:8726936-8726937	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs180818088	chr8:8726941-8726942	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs574973343	chr8:8726942-8726943	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs543943393	chr8:8726947-8726948	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs376073670	chr8:8726954-8726955	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs574504502	chr8:8726955-8726956	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs540423771	chr8:8726974-8726975	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs73190098	chr8:8726986-8726987	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs34507441	chr8:8726988-8726989	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs114255358	chr8:8726996-8726997	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs202234108	chr8:8727012-8727013	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs374946400	chr8:8727027-8727028	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs565252568	chr8:8727079-8727080	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:140)

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
low-grade B-cell lymphoma tumor	18367492	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
Colorectal cancer	16774939	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
Bladder cancer	21909424	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
Bipolar disorder	19114987	CNVD
Gastric cancer	17229543	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:876 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8699400-8729600	Weak transcription	Fetal Stomach	stomach
2	chr8:8702200-8726000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:8702200-8726400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:8707200-8726600	Weak transcription	Pancreas	Pancrea
5	chr8:8708600-8726000	Weak transcription	Fetal Intestine Small	intestine
6	chr8:8709000-8726000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr8:8709400-8729400	Weak transcription	NHLF	lung
8	chr8:8709600-8726000	Weak transcription	Fetal Intestine Large	intestine
9	chr8:8709600-8730000	Weak transcription	HSMMtube	muscle
10	chr8:8714400-8728000	Weak transcription	Ovary	ovary
11	chr8:8714400-8730000	Weak transcription	Aorta	Aorta
12	chr8:8714800-8726000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr8:8714800-8728400	Weak transcription	Fetal Lung	lung
14	chr8:8714800-8730000	Weak transcription	Brain Angular Gyrus	brain
15	chr8:8715600-8726000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr8:8715600-8726000	Weak transcription	Small Intestine	intestine
17	chr8:8715800-8726200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:8716400-8726800	Weak transcription	Spleen	Spleen
19	chr8:8717600-8726200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr8:8717800-8735200	Weak transcription	Esophagus	oesophagus
21	chr8:8718000-8730000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:8718200-8728200	Weak transcription	Lung	lung
23	chr8:8718200-8729800	Weak transcription	Right Ventricle	heart
24	chr8:8718400-8726400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:8718400-8726400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:8718400-8742200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:8718600-8726000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr8:8718600-8726000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:8718600-8726000	Weak transcription	A549	lung
30	chr8:8718600-8726400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr8:8718600-8726600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr8:8718600-8728000	Weak transcription	Osteobl	bone
33	chr8:8718600-8729400	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr8:8718600-8729800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr8:8718800-8726000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr8:8718800-8727200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:8718800-8730400	Weak transcription	HSMM	muscle
38	chr8:8719000-8730400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr8:8719400-8727200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr8:8719800-8729400	Weak transcription	NH-A	brain
41	chr8:8721000-8726200	Weak transcription	Fetal Brain Female	brain
42	chr8:8721200-8726200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr8:8721600-8726000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr8:8721800-8727800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:8721800-8728200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr8:8722000-8726800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr8:8722000-8727200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr8:8722000-8727200	Weak transcription	Placenta	Placenta
49	chr8:8722000-8727600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:8722200-8727000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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