Variant report

Variant	nsv611411
Chromosome Location	chr8:58835639-58878786
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:58833234..58835780-chr8:58840536..58842507,2	K562	blood:
2	chr8:58852805..58855256-chr8:58856771..58859686,2	K562	blood:
3	chr8:58833234..58835780-chr8:58840536..58842507,2	K562	blood:
4	chr8:58833830..58836490-chr8:58838280..58841194,2	MCF-7	breast:
5	chr8:58833149..58837322-chr8:58838657..58842507,5	K562	blood:
6	chr8:58843787..58847894-chr8:58848419..58852033,3	MCF-7	breast:
7	chr8:58833149..58837322-chr8:58838657..58842507,5	K562	blood:
8	chr8:58845538..58847740-chr8:58848802..58850911,2	K562	blood:
9	chr8:58833830..58836490-chr8:58838280..58841194,2	MCF-7	breast:
10	chr8:58875011..58876922-chr8:58881232..58883758,2	K562	blood:
11	chr8:58845538..58847740-chr8:58848802..58850911,2	K562	blood:
12	chr8:58809496..58812151-chr8:58837092..58839981,2	MCF-7	breast:
13	chr8:58842806..58845352-chr8:58847388..58850098,2	K562	blood:
14	chr8:58842806..58845352-chr8:58847388..58850098,2	K562	blood:
15	chr8:58852805..58855256-chr8:58856771..58859686,2	K562	blood:
16	chr8:58843787..58847894-chr8:58848419..58852033,3	MCF-7	breast:

No data

Extended variants
information (count: 1249 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1249 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs930319	chr8:58835639-58835640	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554055391	chr8:58835646-58835647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192329895	chr8:58835651-58835652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548895347	chr8:58835676-58835677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545830353	chr8:58835711-58835712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150933832	chr8:58835731-58835732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531738418	chr8:58835749-58835750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115936832	chr8:58835919-58835920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113847740	chr8:58835966-58835967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369092863	chr8:58835992-58835993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555009911	chr8:58835993-58835994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561696732	chr8:58836060-58836061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527489103	chr8:58836104-58836105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139499375	chr8:58836128-58836129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149699233	chr8:58836145-58836146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1436021	chr8:58836173-58836174	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs369065779	chr8:58836195-58836196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145528888	chr8:58836218-58836219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373853978	chr8:58836264-58836265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs72660336	chr8:58836291-58836292	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs551163393	chr8:58836302-58836303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115431775	chr8:58836392-58836393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549080054	chr8:58836400-58836401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568522389	chr8:58836444-58836445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183827477	chr8:58836473-58836474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554044811	chr8:58836477-58836478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs16922796	chr8:58836584-58836585	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs539423863	chr8:58836647-58836648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187161199	chr8:58836649-58836650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374138240	chr8:58836676-58836677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577352218	chr8:58836700-58836701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545557982	chr8:58836701-58836702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140657006	chr8:58836702-58836703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541916168	chr8:58836730-58836731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546119963	chr8:58836733-58836734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562241752	chr8:58836734-58836735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557778811	chr8:58836741-58836742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190554547	chr8:58836752-58836753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531310115	chr8:58836771-58836772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572144133	chr8:58836800-58836801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182802348	chr8:58836812-58836813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs145842698	chr8:58836827-58836828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs892945	chr8:58836831-58836832	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs187238206	chr8:58836867-58836868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191688062	chr8:58836870-58836871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550122207	chr8:58836885-58836886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563104719	chr8:58836909-58836910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375766922	chr8:58836937-58836938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs527565777	chr8:58836952-58836953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182318608	chr8:58837036-58837037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:213 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58833200-58836400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:58833200-58837800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:58833200-58838400	Weak transcription	Fetal Muscle Leg	muscle
4	chr8:58833400-58838800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr8:58833400-58839000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:58833600-58835800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr8:58833600-58838000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr8:58833600-58838800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr8:58833600-58839000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr8:58833600-58839000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr8:58835800-58836200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr8:58836000-58836200	Enhancers	H9 Cell Line	embryonic stem cell
13	chr8:58836200-58839000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr8:58836200-58839200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr8:58836400-58836800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:58836800-58837600	Enhancers	Fetal Heart	heart
17	chr8:58836800-58839800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:58837000-58837400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:58837000-58838000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:58837400-58837800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:58837600-58838600	Weak transcription	Fetal Heart	heart
22	chr8:58837800-58838000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:58837800-58838200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:58837800-58839200	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr8:58838000-58838200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr8:58838000-58841200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:58838000-58842200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:58838200-58838600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr8:58838200-58843400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:58838400-58839800	Enhancers	Fetal Muscle Leg	muscle
31	chr8:58838600-58839600	Enhancers	Fetal Heart	heart
32	chr8:58838600-58839800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr8:58838800-58839600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr8:58838800-58840000	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr8:58838800-58843400	Weak transcription	Psoas Muscle	Psoas
36	chr8:58839000-58839400	Enhancers	H1 Cell Line	embryonic stem cell
37	chr8:58839000-58839400	Enhancers	H9 Cell Line	embryonic stem cell
38	chr8:58839000-58839800	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr8:58839000-58839800	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr8:58839000-58839800	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr8:58839200-58839800	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr8:58839600-58839800	Enhancers	Left Ventricle	heart
43	chr8:58839600-58839800	Enhancers	Right Atrium	heart
44	chr8:58839600-58842200	Weak transcription	Fetal Heart	heart
45	chr8:58839800-58841600	Weak transcription	Left Ventricle	heart
46	chr8:58839800-58843400	Weak transcription	Fetal Muscle Leg	muscle
47	chr8:58839800-58846200	Weak transcription	Right Atrium	heart
48	chr8:58841000-58841200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:58841200-58849800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:58841600-58841800	Enhancers	Fetal Muscle Trunk	muscle

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