Variant report

Variant	nsv969751
Chromosome Location	chr9:15287487-15294727
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	chr9:15293831..15297894-chr9:15305171..15308300,4	MCF-7	breast:
2	chr9:15285882..15288246-chr9:15510557..15512091,2	K562	blood:
3	chr9:15283042..15284645-chr9:15287369..15289731,2	K562	blood:
4	chr9:15283111..15284924-chr9:15291453..15293765,2	MCF-7	breast:
5	chr9:15285917..15290029-chr9:15305142..15308889,4	MCF-7	breast:
6	chr9:15290133..15292362-chr9:15306023..15308672,3	MCF-7	breast:
7	chr9:15273274..15274780-chr9:15289457..15291065,2	K562	blood:
8	chr9:15218010..15219971-chr9:15288500..15290967,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164985	chromatin interactions
ENSG00000155158	chromatin interactions

Extended variants
information (count: 351 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:351 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188513581	chr9:15287493-15287494	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs554925902	chr9:15287518-15287519	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs374953572	chr9:15287546-15287547	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs386733003	chr9:15287653-15287654	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs528867359	chr9:15287673-15287674	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs550432612	chr9:15287695-15287696	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs568957845	chr9:15287701-15287702	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs369500538	chr9:15287714-15287715	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs551163956	chr9:15287745-15287746	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs192867483	chr9:15287761-15287762	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs533874425	chr9:15287781-15287782	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs112100680	chr9:15287800-15287801	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs185081781	chr9:15287817-15287818	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs112131317	chr9:15287858-15287859	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs556248081	chr9:15287903-15287904	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs578055179	chr9:15287918-15287919	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs556091309	chr9:15287931-15287932	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs78907091	chr9:15287943-15287944	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs75190016	chr9:15287952-15287953	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs75117760	chr9:15287959-15287960	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs560717015	chr9:15287964-15287965	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs373793603	chr9:15287968-15287969	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs4741483	chr9:15287999-15288000	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs10810369	chr9:15288045-15288046	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs569724244	chr9:15288051-15288052	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs561604974	chr9:15288055-15288056	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs531883086	chr9:15288131-15288132	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs116941417	chr9:15288159-15288160	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs568310958	chr9:15288164-15288165	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs562306220	chr9:15288185-15288186	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs533863187	chr9:15288196-15288197	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs10961957	chr9:15288198-15288199	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs141159324	chr9:15288235-15288236	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs543867406	chr9:15288265-15288266	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs189546360	chr9:15288266-15288267	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs10961958	chr9:15288295-15288296	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs548873838	chr9:15288319-15288320	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs150156349	chr9:15288320-15288321	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs556179352	chr9:15288322-15288323	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs537706436	chr9:15288341-15288342	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs11794919	chr9:15288358-15288359	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs571667705	chr9:15288366-15288367	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs539178743	chr9:15288377-15288378	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs370439440	chr9:15288391-15288392	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs180883380	chr9:15288404-15288405	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs543265554	chr9:15288448-15288449	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs554831162	chr9:15288450-15288451	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs376147507	chr9:15288486-15288487	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs576684796	chr9:15288494-15288495	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs543755512	chr9:15288500-15288501	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	19835627	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:360 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:15243000-15293400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr9:15250200-15288200	Weak transcription	Fetal Stomach	stomach
3	chr9:15254000-15293000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr9:15254200-15293000	Weak transcription	NHEK	skin
5	chr9:15254200-15295600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr9:15259200-15293400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr9:15273600-15293400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr9:15274000-15288400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:15274000-15288400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr9:15277000-15292200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr9:15277000-15293000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr9:15277600-15288400	Weak transcription	Lung	lung
13	chr9:15277600-15296800	Weak transcription	Gastric	stomach
14	chr9:15278000-15295200	Weak transcription	Pancreas	Pancrea
15	chr9:15278200-15289400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr9:15278600-15291200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr9:15279800-15293200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr9:15280800-15288600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr9:15281600-15289000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr9:15283600-15293800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr9:15285000-15287600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr9:15285200-15293800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr9:15286000-15287600	Enhancers	Primary T cells from cord blood	blood
24	chr9:15286000-15287600	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr9:15286000-15287600	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr9:15286000-15287600	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr9:15286000-15287600	Enhancers	Stomach Mucosa	stomach
28	chr9:15286200-15287600	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr9:15286400-15289400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr9:15286800-15288000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr9:15286800-15288200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr9:15286800-15288600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr9:15286800-15289000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr9:15286800-15289600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr9:15286800-15293200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr9:15286800-15293800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr9:15287000-15287600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr9:15287000-15288600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr9:15287000-15293600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr9:15287000-15294200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr9:15287200-15288000	Enhancers	HepG2	liver
42	chr9:15287200-15288200	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr9:15287400-15287600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr9:15287400-15287600	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr9:15287400-15287600	Enhancers	Small Intestine	intestine
46	chr9:15287400-15288200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr9:15287400-15288200	Weak transcription	Fetal Intestine Small	intestine
48	chr9:15287400-15288400	Weak transcription	Fetal Intestine Large	intestine
49	chr9:15287400-15289400	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr9:15287400-15303600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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