Variant report

Variant	esv16865
Chromosome Location	chr8:9642195-9712807
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	chr8:9224923..9225494-chr8:9688129..9688755,2	MCF-7	breast:
2	chr8:8527857..8528805-chr8:9688247..9689065,2	K562	blood:
3	chr8:9195933..9196478-chr8:9688212..9689059,2	MCF-7	breast:
4	chr8:9617728..9618733-chr8:9688111..9689059,9	MCF-7	breast:
5	chr8:9617756..9618996-chr8:9686891..9687684,4	MCF-7	breast:
6	chr8:9617870..9618700-chr8:9688130..9689029,3	MCF-7	breast:
7	chr8:9226234..9227282-chr8:9688101..9689055,3	K562	blood:
8	chr8:9617693..9618675-chr8:9688115..9689212,3	K562	blood:
9	chr1:43047085..43047605-chr8:9688214..9688790,2	MCF-7	breast:
10	chr8:9618867..9619594-chr8:9688240..9688751,2	K562	blood:
11	chr13:47630937..47631456-chr8:9688233..9688778,2	MCF-7	breast:
12	chr8:9640376..9642829-chr8:9643116..9645666,2	K562	blood:
13	chr8:9640376..9642829-chr8:9643116..9645666,2	K562	blood:
14	chr8:9618454..9619216-chr8:9687131..9687650,2	K562	blood:
15	chr8:9617741..9618517-chr8:9686926..9687953,5	MCF-7	breast:
16	chr8:9606177..9606904-chr8:9688214..9688998,2	MCF-7	breast:
17	chr8:9178042..9178608-chr8:9688275..9689205,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000186409	chromatin interactions

Extended variants
information (count: 1892 )
Associated
traits (count: 145 )

Variant overlapped rSNPs/rCNVs (count:1892 , 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	rs536814879	chr8:9642196-9642197	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs576277835	chr8:9642197-9642198	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs550428059	chr8:9642210-9642211	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs367731577	chr8:9642231-9642232	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533046717	chr8:9642245-9642246	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567929832	chr8:9642251-9642252	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192264036	chr8:9642261-9642262	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546504502	chr8:9642267-9642268	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140615418	chr8:9642269-9642270	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150443145	chr8:9642312-9642313	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34302297	chr8:9642316-9642317	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
12	rs184311571	chr8:9642326-9642327	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545780759	chr8:9642417-9642418	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558987578	chr8:9642455-9642456	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532007556	chr8:9642472-9642473	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114165832	chr8:9642526-9642527	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189265415	chr8:9642543-9642544	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6999382	chr8:9642547-9642548	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs201535295	chr8:9642555-9642556	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527862731	chr8:9642564-9642565	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539773558	chr8:9642565-9642566	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115935811	chr8:9642576-9642577	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs28650769	chr8:9642599-9642600	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs193207552	chr8:9642629-9642630	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557716735	chr8:9642656-9642657	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149201089	chr8:9642675-9642676	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113007765	chr8:9642686-9642687	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555345400	chr8:9642693-9642694	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572207179	chr8:9642695-9642696	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572920282	chr8:9642706-9642707	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553887444	chr8:9642712-9642713	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576921119	chr8:9642725-9642726	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114332356	chr8:9642727-9642728	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562882723	chr8:9642747-9642748	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531575376	chr8:9642777-9642778	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375472812	chr8:9642803-9642804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542535172	chr8:9642830-9642831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201741660	chr8:9642861-9642862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200497936	chr8:9642873-9642874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562199900	chr8:9642876-9642877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540304355	chr8:9642890-9642891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs56182128	chr8:9642908-9642909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562214942	chr8:9642909-9642910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs57364046	chr8:9642911-9642912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184743899	chr8:9642949-9642950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11249946	chr8:9642960-9642961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540123734	chr8:9643095-9643096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115445005	chr8:9643096-9643097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573271188	chr8:9643102-9643103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188900839	chr8:9643107-9643108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:145)

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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9638600-9644800	Weak transcription	HSMM	muscle
2	chr8:9638600-9645400	Weak transcription	Fetal Brain Male	brain
3	chr8:9640000-9642200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:9640400-9646800	Weak transcription	Pancreas	Pancrea
5	chr8:9641000-9642600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:9641600-9642200	Enhancers	HMEC	breast
7	chr8:9641600-9642400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:9641800-9643600	Weak transcription	Fetal Heart	heart
9	chr8:9642000-9642200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:9642000-9642200	Active TSS	Primary T cells from cord blood	blood
11	chr8:9642000-9642600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
12	chr8:9642000-9642800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
13	chr8:9642000-9642800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:9642600-9644200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr8:9642800-9648800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:9643200-9643800	ZNF genes & repeats	HepG2	liver
17	chr8:9643800-9646200	Weak transcription	HepG2	liver
18	chr8:9644200-9644600	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr8:9646200-9647800	Enhancers	HepG2	liver
20	chr8:9646800-9647600	Enhancers	Pancreas	Pancrea
21	chr8:9650000-9650400	Bivalent Enhancer	HepG2	liver
22	chr8:9650400-9650800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:9650400-9652000	Enhancers	HepG2	liver
24	chr8:9650800-9651200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:9656600-9657400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:9657200-9660800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:9658600-9659800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr8:9659400-9660600	Enhancers	HepG2	liver
29	chr8:9661400-9661800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:9661400-9661800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:9661400-9662400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:9661400-9662400	Enhancers	HMEC	breast
33	chr8:9661400-9662600	Enhancers	NHEK	skin
34	chr8:9661600-9662400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:9661800-9662800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr8:9669800-9670600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:9669800-9670600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:9671800-9672400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:9673600-9673800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
40	chr8:9679800-9680600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:9684000-9684200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr8:9684200-9684400	Bivalent Enhancer	Fetal Stomach	stomach
43	chr8:9684200-9689000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr8:9685200-9687800	Enhancers	HepG2	liver
45	chr8:9686200-9686600	Enhancers	Pancreas	Pancrea
46	chr8:9686200-9686600	Enhancers	A549	lung
47	chr8:9686200-9686800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:9686400-9686800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr8:9686400-9686800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:9686400-9686800	Enhancers	Gastric	stomach

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