Variant report

Variant	esv3440486
Chromosome Location	chr8:20092872-20097870
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:20089437..20091365-chr8:20095283..20097507,2	K562	blood:
2	chr8:20085731..20091365-chr8:20092849..20097507,5	K562	blood:
3	chr8:20086233..20088628-chr8:20091921..20094349,2	K562	blood:

Variant related genes	Relation type
ENSG00000222267	chromatin interactions

Extended variants
information (count: 281 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:281 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77144184	chr8:20092876-20092877	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs557842386	chr8:20092894-20092895	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs576499605	chr8:20092900-20092901	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs185703493	chr8:20092929-20092930	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs543515120	chr8:20092941-20092942	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs75668185	chr8:20092958-20092959	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs574333695	chr8:20092975-20092976	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs541636387	chr8:20092987-20092988	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs537097327	chr8:20093004-20093005	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs189379319	chr8:20093077-20093078	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs533438652	chr8:20093080-20093081	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs113896062	chr8:20093092-20093093	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs567580427	chr8:20093097-20093098	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs563891733	chr8:20093112-20093113	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs11204102	chr8:20093143-20093144	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs559019403	chr8:20093151-20093152	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs374019035	chr8:20093160-20093161	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs549419948	chr8:20093177-20093178	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs567811361	chr8:20093210-20093211	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs78918361	chr8:20093211-20093212	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs547173570	chr8:20093282-20093283	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs35423759	chr8:20093313-20093314	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs117838888	chr8:20093317-20093318	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs545929196	chr8:20093333-20093334	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs4922140	chr8:20093358-20093359	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs569908480	chr8:20093406-20093407	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs537441642	chr8:20093475-20093476	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs113451675	chr8:20093527-20093528	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs180770647	chr8:20093546-20093547	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs541676332	chr8:20093571-20093572	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs372041721	chr8:20093597-20093598	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs183677856	chr8:20093600-20093601	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs578208888	chr8:20093601-20093602	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs147147172	chr8:20093618-20093619	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs188356195	chr8:20093623-20093624	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs531254859	chr8:20093642-20093643	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs181345537	chr8:20093663-20093664	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs561480307	chr8:20093728-20093729	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs114680201	chr8:20093736-20093737	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs556140397	chr8:20093745-20093746	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs547208465	chr8:20093751-20093752	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs17092175	chr8:20093758-20093759	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs185818752	chr8:20093762-20093763	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs12545976	chr8:20093780-20093781	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs539498289	chr8:20093784-20093785	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs557611071	chr8:20093792-20093793	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs541959283	chr8:20093816-20093817	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs4922141	chr8:20093846-20093847	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs549379625	chr8:20093863-20093864	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs191715544	chr8:20093879-20093880	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Prostate cancer	21965145	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
Colorectal cancer	16272173	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
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Non-syndromic sensorineural hearing loss	20606397	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
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Epilepsy	22083797	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17603634	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cancer	18840272	CNVD
Breast cancer	19602461	CNVD
Osteosarcoma	19286668	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	19258508	CNVD
small cell lung cancer	20016488	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Gastric adenocarcinoma	19115996	CNVD
Colorectal cancer	19455253	CNVD
Melanoma	20688739	CNVD
Esophageal adenocarcinoma	19417022	CNVD

Chromatin state (count:181 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20079400-20093800	Weak transcription	Right Ventricle	heart
2	chr8:20083800-20095600	Weak transcription	Pancreas	Pancrea
3	chr8:20084600-20093400	Weak transcription	Spleen	Spleen
4	chr8:20089400-20093000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:20089800-20093200	Enhancers	Dnd41	blood
6	chr8:20089800-20093600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:20089800-20096400	Weak transcription	Right Atrium	heart
8	chr8:20090000-20103800	Weak transcription	HSMM	muscle
9	chr8:20090200-20093400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:20090200-20102800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:20091000-20093200	Enhancers	Fetal Brain Female	brain
12	chr8:20091000-20094800	Enhancers	Fetal Thymus	thymus
13	chr8:20091200-20093200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:20091200-20103800	Weak transcription	NHLF	lung
15	chr8:20091400-20093800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:20091400-20094800	Bivalent Enhancer	Fetal Muscle Leg	muscle
17	chr8:20091600-20093000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
18	chr8:20091600-20093000	Enhancers	Thymus	Thymus
19	chr8:20091600-20093800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:20091800-20093000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:20091800-20093000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:20091800-20094400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr8:20092000-20093000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:20092000-20093600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr8:20092000-20097600	Enhancers	Fetal Brain Male	brain
26	chr8:20092400-20093000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
27	chr8:20092400-20093000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
28	chr8:20092400-20093000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr8:20092400-20093000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
30	chr8:20092600-20093000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:20092600-20093000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
32	chr8:20092600-20093000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
33	chr8:20092600-20093000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:20092600-20093000	Enhancers	Fetal Lung	lung
35	chr8:20092600-20093200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr8:20092600-20093200	Enhancers	Brain Germinal Matrix	brain
37	chr8:20092600-20093200	Enhancers	Fetal Kidney	kidney
38	chr8:20092600-20095800	Weak transcription	HSMMtube	muscle
39	chr8:20092800-20093000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
40	chr8:20092800-20094000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
41	chr8:20092800-20094800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
42	chr8:20093000-20093200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
43	chr8:20093000-20093200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
44	chr8:20093000-20093200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:20093000-20093400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
46	chr8:20093000-20093600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
47	chr8:20093000-20093800	Weak transcription	Thymus	Thymus
48	chr8:20093000-20094200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
49	chr8:20093000-20094200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:20093000-20094200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell

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