Variant report

Variant	esv3366232
Chromosome Location	chr8:117875403-117878954
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:117857343..117862802-chr8:117868488..117876053,7	K562	blood:
2	chr8:117857607..117860460-chr8:117874420..117876566,2	MCF-7	breast:
3	chr8:117862463..117865203-chr8:117877593..117879103,2	K562	blood:

Variant related genes	Relation type
ENSG00000164754	chromatin interactions

Extended variants
information (count: 152 )
Associated
traits (count: 132 )

Variant overlapped rSNPs/rCNVs (count:152 , 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	rs186566723	chr8:117875484-117875485	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs372478233	chr8:117875531-117875532	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs4481630	chr8:117875537-117875538	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs200592135	chr8:117875539-117875540	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs375683414	chr8:117875540-117875541	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs577857183	chr8:117875555-117875556	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs2921783	chr8:117875557-117875558	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs533624536	chr8:117875567-117875568	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs574359446	chr8:117875598-117875599	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs143183410	chr8:117875605-117875606	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs534327825	chr8:117875624-117875625	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs555564150	chr8:117875634-117875635	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs191011655	chr8:117875671-117875672	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs535288938	chr8:117875685-117875686	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs556692300	chr8:117875719-117875720	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs183009583	chr8:117875722-117875723	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs113374770	chr8:117875730-117875731	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs556943127	chr8:117875742-117875743	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs557354992	chr8:117875766-117875767	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs140917191	chr8:117875845-117875846	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs16888992	chr8:117875866-117875867	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs145065915	chr8:117875918-117875919	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs58684126	chr8:117875924-117875925	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs187588435	chr8:117875933-117875934	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs192624492	chr8:117875956-117875957	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs576694571	chr8:117875974-117875975	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs138890344	chr8:117875981-117875982	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs183183916	chr8:117875989-117875990	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs552080685	chr8:117876037-117876038	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs544921586	chr8:117876177-117876178	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372238964	chr8:117876183-117876184	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560504176	chr8:117876221-117876222	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527675587	chr8:117876236-117876237	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs187614859	chr8:117876244-117876245	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545583066	chr8:117876270-117876271	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114032249	chr8:117876279-117876280	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565499764	chr8:117876288-117876289	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192197140	chr8:117876296-117876297	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184997283	chr8:117876302-117876303	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550378481	chr8:117876305-117876306	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572455301	chr8:117876355-117876356	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539378758	chr8:117876364-117876365	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371172084	chr8:117876378-117876379	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs16888995	chr8:117876388-117876389	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs541174864	chr8:117876399-117876400	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572839189	chr8:117876406-117876407	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs16888997	chr8:117876408-117876409	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs189888868	chr8:117876423-117876424	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549640557	chr8:117876442-117876443	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs2921780	chr8:117876475-117876476	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:132)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	17268525	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	19204574	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117852400-117877000	Weak transcription	Fetal Intestine Small	intestine
2	chr8:117853000-117881400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:117856200-117877000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:117856400-117878400	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr8:117856400-117879000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr8:117856400-117882000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:117856600-117875800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr8:117856800-117877600	Strong transcription	HSMM	muscle
9	chr8:117856800-117878800	Strong transcription	Fetal Thymus	thymus
10	chr8:117857000-117879200	Strong transcription	Hela-S3	cervix
11	chr8:117857200-117875800	Strong transcription	HUVEC	blood vessel
12	chr8:117857200-117878000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:117857400-117877600	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr8:117857600-117878400	Strong transcription	Duodenum Mucosa	Duodenum
15	chr8:117857800-117875600	Strong transcription	HMEC	breast
16	chr8:117858000-117879000	Strong transcription	Primary B cells from peripheral blood	blood
17	chr8:117858200-117878400	Strong transcription	Primary B cells from cord blood	blood
18	chr8:117858400-117875800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:117858600-117875600	Strong transcription	NHDF-Ad	bronchial
20	chr8:117858600-117875600	Strong transcription	NHEK	skin
21	chr8:117859600-117883800	Weak transcription	Stomach Mucosa	stomach
22	chr8:117860400-117885800	Weak transcription	Esophagus	oesophagus
23	chr8:117862000-117876200	Strong transcription	HSMMtube	muscle
24	chr8:117862200-117875800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:117862200-117877600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr8:117862400-117875800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr8:117863400-117875600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:117864400-117875600	Weak transcription	Small Intestine	intestine
29	chr8:117864400-117882400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:117864400-117885800	Weak transcription	Gastric	stomach
31	chr8:117864800-117875600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr8:117864800-117878400	Weak transcription	Aorta	Aorta
33	chr8:117864800-117884000	Weak transcription	Right Ventricle	heart
34	chr8:117865200-117882400	Weak transcription	Lung	lung
35	chr8:117865200-117885800	Weak transcription	Pancreas	Pancrea
36	chr8:117865600-117881600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:117865600-117885800	Weak transcription	Spleen	Spleen
38	chr8:117866800-117878200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr8:117867000-117885200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr8:117867000-117885600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:117868600-117881000	Weak transcription	Fetal Brain Male	brain
42	chr8:117869000-117875600	Weak transcription	Psoas Muscle	Psoas
43	chr8:117869000-117878200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr8:117869800-117878800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr8:117870000-117884400	Weak transcription	Colonic Mucosa	Colon
46	chr8:117870200-117884800	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr8:117870600-117875600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr8:117871000-117878200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr8:117871600-117875800	Weak transcription	NH-A	brain
50	chr8:117872000-117875600	Strong transcription	Adipose Nuclei	Adipose

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