Variant report

Variant	esv2462449
Chromosome Location	chr8:61595271-61596722
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:61595659..61597988-chr8:61649091..61651205,2	MCF-7	breast:
2	chr8:61596105..61598331-chr8:61606151..61608898,3	MCF-7	breast:
3	chr8:61594274..61596445-chr8:61605915..61607443,2	MCF-7	breast:
4	chr8:61594018..61597231-chr8:61607679..61611092,4	K562	blood:
5	chr8:61595844..61597847-chr8:61600108..61602179,3	MCF-7	breast:
6	chr8:61595542..61601111-chr8:61606456..61610511,8	K562	blood:
7	chr8:61594133..61596295-chr8:61945003..61948640,3	K562	blood:
8	chr8:61559343..61568621-chr8:61588061..61597189,35	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254869	chromatin interactions

Extended variants
information (count: 44 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375288980	chr8:61595331-61595332	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs546167375	chr8:61595339-61595340	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs564375969	chr8:61595360-61595361	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs528366498	chr8:61595378-61595379	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs540449937	chr8:61595404-61595405	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs561954584	chr8:61595425-61595426	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs35943554	chr8:61595493-61595494	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs185436337	chr8:61595524-61595525	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs35938223	chr8:61595529-61595530	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs551101478	chr8:61595598-61595599	Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs16926379	chr8:61595606-61595607	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs549548249	chr8:61595614-61595615	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs533368682	chr8:61595619-61595620	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs551311919	chr8:61595645-61595646	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs4738813	chr8:61595671-61595672	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs534186876	chr8:61595681-61595682	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs141380878	chr8:61595753-61595754	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs528738420	chr8:61595779-61595780	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs2680300	chr8:61595785-61595786	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs78182220	chr8:61595791-61595792	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs557030826	chr8:61595803-61595804	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs182035724	chr8:61595896-61595897	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs539461292	chr8:61595967-61595968	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs557753039	chr8:61595980-61595981	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs145184482	chr8:61596064-61596065	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs540560319	chr8:61596127-61596128	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs561830218	chr8:61596206-61596207	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs147643349	chr8:61596217-61596218	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs376305533	chr8:61596307-61596308	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs544036477	chr8:61596401-61596402	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs563001134	chr8:61596434-61596435	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs200306323	chr8:61596466-61596467	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs34548561	chr8:61596468-61596469	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs398086619	chr8:61596479-61596480	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs397819149	chr8:61596480-61596481	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs186272120	chr8:61596547-61596548	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs113463037	chr8:61596560-61596561	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs551375208	chr8:61596573-61596574	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs34788428	chr8:61596580-61596581	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs142239483	chr8:61596633-61596634	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs527678776	chr8:61596651-61596652	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs56371309	chr8:61596652-61596653	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs187992638	chr8:61596692-61596693	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs537032429	chr8:61596716-61596717	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
Schizophrenia	23813976	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:155 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61593200-61596200	Weak transcription	Gastric	stomach
2	chr8:61593200-61596800	Weak transcription	Spleen	Spleen
3	chr8:61593400-61596200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:61593400-61596200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:61593400-61596200	Weak transcription	Esophagus	oesophagus
6	chr8:61593400-61596200	Weak transcription	Left Ventricle	heart
7	chr8:61593400-61596200	Weak transcription	Pancreas	Pancrea
8	chr8:61593400-61596200	Weak transcription	Small Intestine	intestine
9	chr8:61593400-61597000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:61593400-61597000	Weak transcription	Lung	lung
11	chr8:61593400-61607200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:61593800-61596400	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr8:61594000-61595600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr8:61594000-61596200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr8:61594000-61596200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:61594000-61596200	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr8:61594000-61596200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr8:61594000-61596200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr8:61594000-61596200	Weak transcription	Psoas Muscle	Psoas
20	chr8:61594000-61596200	Weak transcription	Right Atrium	heart
21	chr8:61594000-61596200	Weak transcription	Right Ventricle	heart
22	chr8:61594000-61596200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr8:61594000-61596200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr8:61594000-61596600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr8:61594000-61596800	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr8:61594000-61596800	Enhancers	Primary B cells from peripheral blood	blood
27	chr8:61594000-61596800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr8:61594000-61596800	Weak transcription	Brain Substantia Nigra	brain
29	chr8:61594000-61596800	Weak transcription	Fetal Brain Male	brain
30	chr8:61594000-61597000	Weak transcription	Adipose Nuclei	Adipose
31	chr8:61594000-61597000	Weak transcription	Fetal Muscle Leg	muscle
32	chr8:61594000-61597600	Weak transcription	K562	blood
33	chr8:61594000-61598000	Enhancers	Fetal Heart	heart
34	chr8:61594000-61599200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr8:61594000-61610400	Weak transcription	A549	lung
36	chr8:61594200-61595400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:61594200-61595400	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr8:61594200-61596000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:61594200-61596200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr8:61594200-61596200	Enhancers	Primary B cells from cord blood	blood
41	chr8:61594200-61596200	Weak transcription	Fetal Intestine Large	intestine
42	chr8:61594200-61596200	Weak transcription	HMEC	breast
43	chr8:61594200-61596800	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr8:61594200-61598400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr8:61594200-61598800	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr8:61594200-61599000	Weak transcription	Colonic Mucosa	Colon
47	chr8:61594200-61602200	Weak transcription	Fetal Brain Female	brain
48	chr8:61594200-61604800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr8:61594200-61617600	Weak transcription	Hela-S3	cervix
50	chr8:61594400-61595400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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