Variant report

Variant	esv3447417
Chromosome Location	chr8:10889142-10892340
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:10883944..10886637-chr8:10888412..10890996,2	K562	blood:
2	chr8:10887222..10889685-chr8:10905766..10908616,2	K562	blood:
3	chr8:10886694..10889685-chr8:10905766..10907458,2	K562	blood:

Extended variants
information (count: 175 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:175 , 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	rs574265441	chr8:10889142-10889143	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191487983	chr8:10889149-10889150	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547520397	chr8:10889199-10889200	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140307803	chr8:10889201-10889202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146015495	chr8:10889219-10889220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115323244	chr8:10889225-10889226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554494487	chr8:10889239-10889240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576283563	chr8:10889243-10889244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372768429	chr8:10889271-10889272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139981047	chr8:10889312-10889313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558480961	chr8:10889313-10889314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11998417	chr8:10889315-10889316	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs34614241	chr8:10889339-10889340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541100010	chr8:10889359-10889360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs143572895	chr8:10889372-10889373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574873740	chr8:10889379-10889380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563202452	chr8:10889383-10889384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529371152	chr8:10889404-10889405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563776168	chr8:10889456-10889457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs372797963	chr8:10889462-10889463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549521066	chr8:10889487-10889488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531227791	chr8:10889488-10889489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552913948	chr8:10889501-10889502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs367742548	chr8:10889519-10889520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569226726	chr8:10889557-10889558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564823181	chr8:10889560-10889561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532159417	chr8:10889609-10889610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547449544	chr8:10889621-10889622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10110123	chr8:10889623-10889624	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs536008134	chr8:10889628-10889629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558231607	chr8:10889647-10889648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548353986	chr8:10889657-10889658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569758162	chr8:10889702-10889703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536898265	chr8:10889753-10889754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182655470	chr8:10889770-10889771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146795831	chr8:10889772-10889773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534685608	chr8:10889840-10889841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376856155	chr8:10889859-10889860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552980230	chr8:10889934-10889935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73541270	chr8:10890004-10890005	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs541999622	chr8:10890040-10890041	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148954859	chr8:10890044-10890045	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575753761	chr8:10890055-10890056	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571828196	chr8:10890092-10890093	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs78920828	chr8:10890100-10890101	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564752696	chr8:10890134-10890135	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373478861	chr8:10890135-10890136	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376189666	chr8:10890143-10890144	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs79430230	chr8:10890150-10890151	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534542920	chr8:10890153-10890154	Weak transcription Strong transcription Enhancers	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Gastric cancer	21811585	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10874400-10892800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:10875000-10890000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr8:10879600-10890000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr8:10879600-10890400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr8:10879800-10890600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:10880000-10890200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:10880000-10896800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr8:10880200-10890400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:10880200-10890400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:10880200-10890600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:10881400-10893200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr8:10883400-10899600	Weak transcription	Brain Anterior Caudate	brain
13	chr8:10884400-10892800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr8:10887200-10890200	Weak transcription	Pancreas	Pancrea
15	chr8:10887800-10894800	Weak transcription	Fetal Stomach	stomach
16	chr8:10888200-10890200	Weak transcription	Gastric	stomach
17	chr8:10888200-10890600	Enhancers	Fetal Brain Male	brain
18	chr8:10888400-10889800	Enhancers	HSMMtube	muscle
19	chr8:10888400-10890200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr8:10888400-10892600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:10888800-10890600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:10889000-10889200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr8:10889000-10890600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:10889000-10891800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:10889200-10890200	Weak transcription	Spleen	Spleen
26	chr8:10889200-10890600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:10889200-10890600	Enhancers	Ovary	ovary
28	chr8:10889400-10890200	Weak transcription	Brain Angular Gyrus	brain
29	chr8:10889400-10890600	Enhancers	Fetal Brain Female	brain
30	chr8:10889600-10890400	Enhancers	Brain Cingulate Gyrus	brain
31	chr8:10889800-10890200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr8:10889800-10892200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:10889800-10894000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr8:10889800-10910800	Weak transcription	HSMMtube	muscle
35	chr8:10890000-10890200	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr8:10890000-10890800	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr8:10890200-10890400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr8:10890200-10890400	Genic enhancers	Brain Angular Gyrus	brain
39	chr8:10890200-10890400	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr8:10890200-10890400	Enhancers	Esophagus	oesophagus
41	chr8:10890200-10890400	Bivalent Enhancer	Right Ventricle	heart
42	chr8:10890200-10890400	ZNF genes & repeats	Spleen	Spleen
43	chr8:10890200-10890800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:10890200-10891200	Strong transcription	Gastric	stomach
45	chr8:10890200-10891800	Strong transcription	Pancreas	Pancrea
46	chr8:10890200-10891800	Strong transcription	Stomach Smooth Muscle	stomach
47	chr8:10890400-10890800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:10890400-10891000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
49	chr8:10890400-10891000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:10890400-10891000	Strong transcription	HUES6 Cell Line	embryonic stem cell

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