Variant report

Variant	esv1807593
Chromosome Location	chr8:11487630-11495441
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:11488454..11489748-chr8:11587903..11588890,8	MCF-7	breast:
2	chr8:11489168..11492004-chr8:11494231..11496266,2	K562	blood:
3	chr8:11477779..11479551-chr8:11492372..11494460,2	K562	blood:
4	chr8:11490989..11493930-chr8:11499186..11501140,2	K562	blood:
5	chr8:11433178..11433693-chr8:11488566..11489368,2	MCF-7	breast:
6	chr8:11489168..11492004-chr8:11494231..11496266,2	K562	blood:
7	chr8:11432287..11434646-chr8:11489007..11491911,2	K562	blood:
8	chr8:11488454..11489748-chr8:11587903..11588890,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000170983	chromatin interactions

Extended variants
information (count: 454 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:454 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369037914	chr8:11487642-11487643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189149402	chr8:11487646-11487647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565944026	chr8:11487681-11487682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530343099	chr8:11487750-11487751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536949910	chr8:11487793-11487794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372170823	chr8:11487808-11487809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548941959	chr8:11487811-11487812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570250021	chr8:11487818-11487819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537672035	chr8:11487890-11487891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549933701	chr8:11487903-11487904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182496213	chr8:11487906-11487907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539124595	chr8:11487981-11487982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187132241	chr8:11487990-11487991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538312850	chr8:11488031-11488032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs74630789	chr8:11488043-11488044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553678352	chr8:11488064-11488065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565534577	chr8:11488085-11488086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73201424	chr8:11488105-11488106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs377344491	chr8:11488119-11488120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs4546619	chr8:11488124-11488125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2409786	chr8:11488127-11488128	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs574753684	chr8:11488128-11488129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs207468940	chr8:11488160-11488161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554880404	chr8:11488167-11488168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560882388	chr8:11488220-11488221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537367257	chr8:11488226-11488227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575809160	chr8:11488265-11488266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543183486	chr8:11488290-11488291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556831263	chr8:11488299-11488300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192143582	chr8:11488300-11488301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532592417	chr8:11488324-11488325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547623219	chr8:11488335-11488336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138415117	chr8:11488359-11488360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370273131	chr8:11488361-11488362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545163774	chr8:11488369-11488370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565425621	chr8:11488375-11488376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182956009	chr8:11488376-11488377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185710834	chr8:11488409-11488410	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs143007861	chr8:11488417-11488418	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs552760580	chr8:11488420-11488421	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs146120898	chr8:11488450-11488451	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs190271182	chr8:11488461-11488462	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs182516808	chr8:11488469-11488470	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs187982109	chr8:11488471-11488472	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs571990857	chr8:11488500-11488501	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs371428639	chr8:11488516-11488517	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs554165482	chr8:11488642-11488643	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs12549182	chr8:11488663-11488664	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs112488174	chr8:11488790-11488791	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs545875762	chr8:11488866-11488867	Enhancers Flanking Active TSS Bivalent Enhancer	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
Gastric cancer	21811585	CNVD
Colorectal cancer	16774939	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	20164919	CNVD
Gastric cancer	22315472	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11482200-11491000	Enhancers	Pancreas	Pancrea
2	chr8:11483400-11488600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:11483600-11488400	Weak transcription	Spleen	Spleen
4	chr8:11483600-11488600	Weak transcription	Right Atrium	heart
5	chr8:11483600-11488600	Weak transcription	Right Ventricle	heart
6	chr8:11485000-11491400	Enhancers	Fetal Intestine Small	intestine
7	chr8:11485200-11487800	Enhancers	Duodenum Mucosa	Duodenum
8	chr8:11485200-11487800	Enhancers	Gastric	stomach
9	chr8:11485200-11490800	Enhancers	Liver	Liver
10	chr8:11485200-11491000	Enhancers	Stomach Mucosa	stomach
11	chr8:11485600-11491400	Enhancers	Ovary	ovary
12	chr8:11486400-11488600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:11486800-11488600	Enhancers	HepG2	liver
14	chr8:11487200-11488400	Enhancers	Fetal Heart	heart
15	chr8:11487200-11488600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:11487400-11488400	Weak transcription	Fetal Kidney	kidney
17	chr8:11487600-11488800	Weak transcription	Fetal Intestine Large	intestine
18	chr8:11487600-11491000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr8:11487800-11488200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr8:11487800-11488200	Weak transcription	Gastric	stomach
21	chr8:11488200-11489800	Enhancers	Duodenum Mucosa	Duodenum
22	chr8:11488200-11490000	Enhancers	Gastric	stomach
23	chr8:11488400-11488600	Flanking Active TSS	Fetal Heart	heart
24	chr8:11488400-11489600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr8:11488400-11489800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:11488400-11490600	Enhancers	Spleen	Spleen
27	chr8:11488400-11490800	Enhancers	Left Ventricle	heart
28	chr8:11488400-11491000	Enhancers	H1 Cell Line	embryonic stem cell
29	chr8:11488400-11491000	Enhancers	Fetal Kidney	kidney
30	chr8:11488600-11488800	Enhancers	Fetal Heart	heart
31	chr8:11488600-11489600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:11488600-11489600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:11488600-11489600	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr8:11488600-11489600	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr8:11488600-11489600	Flanking Active TSS	HepG2	liver
36	chr8:11488600-11489800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr8:11488600-11490000	Enhancers	Right Atrium	heart
38	chr8:11488600-11490000	Enhancers	Right Ventricle	heart
39	chr8:11488600-11490800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr8:11488600-11492200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr8:11488800-11489000	Flanking Active TSS	Fetal Heart	heart
42	chr8:11488800-11489200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr8:11488800-11489200	Bivalent Enhancer	Placenta	Placenta
44	chr8:11488800-11489400	Enhancers	H9 Cell Line	embryonic stem cell
45	chr8:11488800-11489400	Enhancers	Fetal Stomach	stomach
46	chr8:11488800-11489600	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr8:11488800-11489800	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr8:11488800-11489800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr8:11488800-11489800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr8:11488800-11489800	Enhancers	Duodenum Smooth Muscle	Duodenum

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