Variant report

Variant	esv3323083
Chromosome Location	chr8:59469098-59470696
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:59470291..59472157-chr8:59493284..59495142,2	K562	blood:
2	chr8:59460875..59463855-chr8:59467484..59470107,3	K562	blood:
3	chr8:59469692..59471649-chr8:59473194..59476156,2	MCF-7	breast:
4	chr8:59463439..59469524-chr8:59469766..59475373,11	MCF-7	breast:
5	chr8:59467543..59471548-chr8:59563276..59565061,3	K562	blood:
6	chr8:59430665..59433091-chr8:59466254..59469171,2	MCF-7	breast:
7	chr8:59464522..59468575-chr8:59469283..59472849,4	MCF-7	breast:
8	chr8:59466189..59470274-chr8:59507050..59509287,3	MCF-7	breast:
9	chr8:59434915..59437240-chr8:59469391..59471843,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000035681	chromatin interactions
ENSG00000137575	chromatin interactions

Extended variants
information (count: 61 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72647434	chr8:59469136-59469137	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530070454	chr8:59469149-59469150	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs547016055	chr8:59469230-59469231	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs560514271	chr8:59469261-59469262	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs72647435	chr8:59469275-59469276	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs552220096	chr8:59469292-59469293	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs568996792	chr8:59469314-59469315	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs12547751	chr8:59469352-59469353	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs369316993	chr8:59469389-59469390	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs547832827	chr8:59469419-59469420	Weak transcription Strong transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs202009384	chr8:59469430-59469431	Weak transcription Strong transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs567811192	chr8:59469449-59469450	Weak transcription Strong transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs533679980	chr8:59469450-59469451	Weak transcription Strong transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs7000735	chr8:59469458-59469459	Weak transcription Strong transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs200029925	chr8:59469511-59469512	Weak transcription Strong transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs374061150	chr8:59469513-59469514	Weak transcription Strong transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs113869932	chr8:59469514-59469515	Weak transcription Strong transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs578204297	chr8:59469582-59469583	Weak transcription Strong transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs576790870	chr8:59469665-59469666	Weak transcription Strong transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs539291775	chr8:59469670-59469671	Weak transcription Strong transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs559002014	chr8:59469697-59469698	Weak transcription Strong transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs367905499	chr8:59469712-59469713	Weak transcription Strong transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs541407802	chr8:59469892-59469893	Weak transcription Strong transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs575754718	chr8:59469898-59469899	Weak transcription Strong transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs544823965	chr8:59469904-59469905	Weak transcription Strong transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs141962513	chr8:59469947-59469948	Weak transcription Strong transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs574979134	chr8:59469964-59469965	Weak transcription Strong transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs540767183	chr8:59469965-59469966	Weak transcription Strong transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs372770548	chr8:59469966-59469967	Weak transcription Strong transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs112479122	chr8:59469969-59469970	Weak transcription Strong transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs60052013	chr8:59469970-59469971	Weak transcription Strong transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs113125889	chr8:59469981-59469982	Weak transcription Strong transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs371822759	chr8:59470000-59470001	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs112633011	chr8:59470016-59470017	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs369017705	chr8:59470029-59470030	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs181404982	chr8:59470031-59470032	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs532426503	chr8:59470032-59470033	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs551009788	chr8:59470051-59470052	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs200211067	chr8:59470069-59470070	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs546034771	chr8:59470078-59470079	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs7001752	chr8:59470105-59470106	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs577190002	chr8:59470132-59470133	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs58276148	chr8:59470169-59470170	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs7463041	chr8:59470172-59470173	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs377464203	chr8:59470178-59470179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs370332029	chr8:59470190-59470191	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs547971236	chr8:59470196-59470197	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs186028729	chr8:59470228-59470229	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs527363494	chr8:59470294-59470295	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs547112151	chr8:59470342-59470343	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
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
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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD

Chromatin state (count:205 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59465000-59469200	Active TSS	Fetal Brain Female	brain
2	chr8:59465000-59472200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:59466400-59470200	Weak transcription	Gastric	stomach
4	chr8:59466400-59472600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:59466600-59470200	Weak transcription	Spleen	Spleen
6	chr8:59466600-59470800	Weak transcription	Lung	lung
7	chr8:59466600-59472600	Weak transcription	Esophagus	oesophagus
8	chr8:59466600-59472600	Weak transcription	Pancreas	Pancrea
9	chr8:59466800-59470200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr8:59466800-59472400	Weak transcription	Aorta	Aorta
11	chr8:59466800-59472800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:59466800-59479800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:59467000-59472200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:59467000-59472400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr8:59467000-59472600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:59467000-59472800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr8:59467200-59469200	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr8:59467200-59469400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr8:59467200-59486000	Weak transcription	Brain Angular Gyrus	brain
20	chr8:59467400-59559400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr8:59467600-59469400	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr8:59467600-59472400	Weak transcription	Fetal Intestine Large	intestine
23	chr8:59467600-59479200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:59467800-59469200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
25	chr8:59467800-59471200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:59467800-59471200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr8:59467800-59471200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr8:59467800-59471400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr8:59467800-59472000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr8:59468000-59469200	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr8:59468000-59469200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr8:59468000-59469200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr8:59468000-59469200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr8:59468000-59469200	Enhancers	Fetal Brain Male	brain
35	chr8:59468000-59469400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr8:59468000-59470200	Weak transcription	A549	lung
37	chr8:59468000-59471000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr8:59468000-59471000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr8:59468000-59471200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr8:59468000-59472200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr8:59468000-59472200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr8:59468000-59472200	Weak transcription	Brain Germinal Matrix	brain
43	chr8:59468000-59472200	Weak transcription	Fetal Muscle Leg	muscle
44	chr8:59468000-59472600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr8:59468000-59472800	Weak transcription	Colonic Mucosa	Colon
46	chr8:59468000-59473000	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr8:59468000-59475800	Weak transcription	Brain Hippocampus Middle	brain
48	chr8:59468000-59476600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr8:59468000-59479000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr8:59468000-59479600	Weak transcription	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links