Variant report

Variant	esv3401345
Chromosome Location	chr8:8170257-8170778
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8145045..8147805-chr8:8168275..8170393,2	MCF-7	breast:
2	chr8:8170459..8174320-chr8:8242480..8245231,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182319	chromatin interactions

Extended variants
information (count: 26 )
Associated
traits (count: 142 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17667287	chr8:8170294-8170295	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs74415555	chr8:8170308-8170309	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs113472405	chr8:8170313-8170314	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs1850511	chr8:8170329-8170330	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs138032545	chr8:8170340-8170341	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs549282032	chr8:8170347-8170348	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs559873762	chr8:8170351-8170352	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs528712961	chr8:8170365-8170366	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs551894949	chr8:8170374-8170375	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs149491058	chr8:8170399-8170400	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs551005249	chr8:8170411-8170412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550267193	chr8:8170418-8170419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570076266	chr8:8170419-8170420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78485912	chr8:8170476-8170477	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs116302545	chr8:8170493-8170494	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs115220310	chr8:8170498-8170499	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs369530438	chr8:8170502-8170503	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs538611315	chr8:8170511-8170512	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs557381509	chr8:8170524-8170525	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs577325993	chr8:8170605-8170606	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs542978686	chr8:8170653-8170654	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs556558778	chr8:8170674-8170675	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs374279608	chr8:8170707-8170708	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs185301809	chr8:8170719-8170720	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs563438910	chr8:8170757-8170758	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs115285115	chr8:8170761-8170762	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:142)

Disease	PMID	Source
abnormal development	18461090	CNVD
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
Non-syndromic sensorineural hearing loss	17122850	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
Schizophrenia	21346763	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	20967226	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164919	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8163400-8174000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:8164000-8171800	Weak transcription	Fetal Kidney	kidney
3	chr8:8164400-8174600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:8167200-8170600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:8167200-8170600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:8167200-8170600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:8167200-8171000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:8167200-8171200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:8167200-8171200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:8167200-8171200	Enhancers	HepG2	liver
11	chr8:8167200-8173200	Enhancers	HUVEC	blood vessel
12	chr8:8167400-8170600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:8167400-8170600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:8167400-8171000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr8:8167400-8171000	Enhancers	HMEC	breast
16	chr8:8167400-8171200	Enhancers	Brain Anterior Caudate	brain
17	chr8:8167400-8171200	Enhancers	Stomach Mucosa	stomach
18	chr8:8167600-8173800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr8:8167600-8174600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr8:8167800-8172200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr8:8167800-8172400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr8:8167800-8174600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr8:8167800-8175600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:8168200-8171200	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr8:8168200-8175600	Weak transcription	Spleen	Spleen
26	chr8:8168200-8175800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:8168400-8170400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr8:8168400-8170600	Weak transcription	Psoas Muscle	Psoas
29	chr8:8168400-8174600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:8168400-8175400	Weak transcription	Colonic Mucosa	Colon
31	chr8:8168400-8175600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr8:8168400-8180600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr8:8168600-8170600	Enhancers	NHEK	skin
34	chr8:8168600-8171200	Enhancers	Brain Hippocampus Middle	brain
35	chr8:8168600-8174400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr8:8168600-8174600	Weak transcription	Ovary	ovary
37	chr8:8168600-8174800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr8:8168600-8174800	Weak transcription	Fetal Stomach	stomach
39	chr8:8168800-8170400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:8168800-8170600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr8:8168800-8172000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr8:8168800-8172400	Weak transcription	Pancreas	Pancrea
43	chr8:8168800-8172400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr8:8168800-8172600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:8168800-8172600	Weak transcription	Right Atrium	heart
46	chr8:8168800-8173200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr8:8168800-8173800	Weak transcription	Fetal Muscle Leg	muscle
48	chr8:8168800-8174200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr8:8168800-8174200	Enhancers	Hela-S3	cervix
50	chr8:8168800-8174400	Weak transcription	HSMM	muscle

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