Variant report

Variant	nsv895552
Chromosome Location	chr10:59373302-59472580
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	chr10:59394054..59396834-chr10:59398452..59401323,2	K562	blood:
2	chr10:59419341..59421117-chr10:59422902..59424702,2	K562	blood:
3	chr10:59098621..59099527-chr10:59416327..59417352,4	MCF-7	breast:
4	chr10:59417963..59420841-chr10:59422706..59424702,2	K562	blood:
5	chr10:59419341..59421117-chr10:59422902..59424702,2	K562	blood:
6	chr10:59432443..59435362-chr10:59444049..59446600,2	K562	blood:
7	chr10:59339470..59340339-chr10:59416624..59417445,2	MCF-7	breast:
8	chr10:59425076..59427722-chr10:59429991..59432216,2	K562	blood:
9	chr10:59383697..59386334-chr10:59392367..59395214,2	MCF-7	breast:
10	chr10:59432443..59435362-chr10:59444049..59446600,2	K562	blood:
11	chr10:59425076..59427722-chr10:59429991..59432216,2	K562	blood:
12	chr10:59417963..59420841-chr10:59422706..59424702,2	K562	blood:
13	chr10:59383697..59386334-chr10:59392367..59395214,2	MCF-7	breast:
14	chr10:59394054..59396834-chr10:59398452..59401323,2	K562	blood:
15	chr10:59417068..59417632-chr10:59824796..59825595,2	MCF-7	breast:
16	chr10:59098744..59099488-chr10:59416761..59417512,2	MCF-7	breast:

No data

Extended variants
information (count: 1755 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1755 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528530238	chr10:59383403-59383404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567491188	chr10:59383448-59383449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191103336	chr10:59383475-59383476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10047373	chr10:59383481-59383482	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs114975540	chr10:59383493-59383494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569512780	chr10:59383502-59383503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551582183	chr10:59383527-59383528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570196065	chr10:59383538-59383539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115861091	chr10:59383569-59383570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182319998	chr10:59383621-59383622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141225407	chr10:59383675-59383676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534661054	chr10:59383689-59383690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113567889	chr10:59383694-59383695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553016149	chr10:59383702-59383703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536053073	chr10:59383716-59383717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574528054	chr10:59383717-59383718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541804363	chr10:59383725-59383726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77865799	chr10:59383740-59383741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187650045	chr10:59383827-59383828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs72801213	chr10:59383985-59383986	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs545692478	chr10:59383989-59383990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563909988	chr10:59383993-59383994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528566491	chr10:59384016-59384017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9416574	chr10:59384070-59384071	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs561837566	chr10:59384104-59384105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150745994	chr10:59384119-59384120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376645022	chr10:59384143-59384144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557347481	chr10:59384150-59384151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555864914	chr10:59384238-59384239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569468327	chr10:59384282-59384283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540098934	chr10:59384285-59384286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551687010	chr10:59384320-59384321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567032281	chr10:59384336-59384337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs137876642	chr10:59384376-59384377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527671824	chr10:59384400-59384401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34909447	chr10:59384430-59384431	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs568137285	chr10:59384431-59384432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs34264301	chr10:59384442-59384443	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs191061208	chr10:59384452-59384453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111556196	chr10:59384467-59384468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12266715	chr10:59384500-59384501	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs149462013	chr10:59384506-59384507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143711906	chr10:59384512-59384513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371718021	chr10:59384513-59384514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373739212	chr10:59384542-59384543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545908919	chr10:59384549-59384550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs57960395	chr10:59384550-59384551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs2393365	chr10:59384552-59384553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34308501	chr10:59384597-59384598	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs540017124	chr10:59384604-59384605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Obesity	21956041	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
small cell lung cancer	17426248	CNVD
Urothelial carcinoma	21177765	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:309 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:59383400-59383600	Enhancers	Placenta Amnion	Placenta Amnion
2	chr10:59383600-59385200	Enhancers	HMEC	breast
3	chr10:59383600-59385200	Enhancers	NHEK	skin
4	chr10:59383600-59385400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr10:59383600-59387600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr10:59384000-59384200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr10:59384000-59384400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr10:59384200-59385200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr10:59384800-59385200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr10:59384800-59385800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr10:59385000-59385200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr10:59385000-59385200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr10:59385000-59385200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr10:59385000-59385600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr10:59385000-59386000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr10:59385000-59386800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr10:59385200-59385600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr10:59385200-59386200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr10:59385200-59386200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr10:59385200-59387000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr10:59385600-59386000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr10:59385600-59387400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr10:59385800-59387400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr10:59386000-59388000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr10:59386000-59388000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr10:59386200-59386400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr10:59386200-59387000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr10:59386200-59388000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr10:59386400-59387200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr10:59386800-59388600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr10:59387000-59387200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr10:59387000-59388000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr10:59387000-59389000	Enhancers	Brain Germinal Matrix	brain
34	chr10:59387200-59387400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr10:59387200-59387400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr10:59387400-59387600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr10:59387400-59387600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr10:59387400-59387800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr10:59387400-59388400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr10:59387400-59388400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr10:59387400-59389000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr10:59387400-59389000	Enhancers	Liver	Liver
43	chr10:59387400-59389400	Enhancers	Fetal Intestine Large	intestine
44	chr10:59387600-59388000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr10:59387600-59388200	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr10:59387600-59388400	Enhancers	Fetal Kidney	kidney
47	chr10:59387600-59388800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr10:59387600-59388800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr10:59387600-59388800	Enhancers	Placenta Amnion	Placenta Amnion
50	chr10:59387600-59389000	Enhancers	Cortex derived primary cultured neurospheres	brain

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