Variant report

Variant	nsv948157
Chromosome Location	chr10:99150963-99153421
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:99151938-99152071	A549	lung:	n/a	chr10:99152042-99152053
2	CEBPB	chr10:99151997-99152091	Hela-S3	cervix:	n/a	chr10:99152042-99152053
3	CEBPB	chr10:99151881-99152150	IMR90	lung:	n/a	chr10:99152042-99152053
4	CEBPB	chr10:99151883-99152083	HepG2	liver:	n/a	chr10:99152042-99152053
5	POLR2A	chr10:99151514-99151970	A549	lung:	n/a	n/a
6	POLR2A	chr10:99152997-99153834	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr10:99151680-99152439	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr10:99152506-99152518	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr10:99152972-99152989	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr10:99152928-99153635	A549	lung:	n/a	n/a
11	POLR2A	chr10:99149890-99150994	A549	lung:	n/a	n/a
12	POLR2A	chr10:99151695-99151784	HepG2	liver:	n/a	n/a
13	POLR2A	chr10:99151719-99151950	K562	blood:	n/a	n/a
14	POLR2A	chr10:99151561-99152065	IMR90	lung:	n/a	n/a
15	POLR2A	chr10:99152896-99153853	IMR90	lung:	n/a	n/a
16	POLR2A	chr10:99150833-99151008	K562	blood:	n/a	n/a
17	POLR2A	chr10:99151819-99151848	HepG2	liver:	n/a	n/a
18	POLR2A	chr10:99153344-99153513	K562	blood:	n/a	n/a
19	POLR2A	chr10:99150276-99151078	IMR90	lung:	n/a	n/a
20	POLR2A	chr10:99150021-99151040	Hela-S3	cervix:	n/a	n/a
21	TBP	chr10:99152941-99152976	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL355490.1-4	chr10:99152954-99153304	NONHSAT015860

Variant related genes	Relation type
ENSG00000231508	TF binding region
RRP12	TF binding region

Extended variants
information (count: 98 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375885751	chr10:99151005-99151006	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs376268601	chr10:99151065-99151066	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs10786338	chr10:99151108-99151109	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs11189193	chr10:99151118-99151119	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs193042865	chr10:99151196-99151197	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs377734639	chr10:99151200-99151201	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562247344	chr10:99151227-99151228	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140653108	chr10:99151253-99151254	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548183719	chr10:99151281-99151282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569498039	chr10:99151315-99151316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144545286	chr10:99151316-99151317	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527560174	chr10:99151325-99151326	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185745966	chr10:99151361-99151362	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs151121243	chr10:99151400-99151401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535314270	chr10:99151401-99151402	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538045220	chr10:99151406-99151407	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555235254	chr10:99151444-99151445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565649412	chr10:99151449-99151450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367586021	chr10:99151474-99151475	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568586130	chr10:99151483-99151484	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535990801	chr10:99151486-99151487	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141083764	chr10:99151505-99151506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534278667	chr10:99151530-99151531	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs565990982	chr10:99151538-99151539	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs540116824	chr10:99151541-99151542	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs543957384	chr10:99151542-99151543	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs189826901	chr10:99151614-99151615	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs181932666	chr10:99151633-99151634	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs59724601	chr10:99151650-99151651	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs112005544	chr10:99151670-99151671	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs555805222	chr10:99151707-99151708	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs574178925	chr10:99151708-99151709	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs371905157	chr10:99151717-99151718	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs375081110	chr10:99151735-99151736	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs59302286	chr10:99151759-99151760	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs377693426	chr10:99151770-99151771	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs72833946	chr10:99151771-99151772	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs200408584	chr10:99151772-99151773	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs572297463	chr10:99151810-99151811	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs374996401	chr10:99151885-99151886	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs546036421	chr10:99151921-99151922	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs532840865	chr10:99151948-99151949	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs186038223	chr10:99151949-99151950	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs531504710	chr10:99151973-99151974	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs138683543	chr10:99152033-99152034	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs141686119	chr10:99152062-99152063	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs147060638	chr10:99152073-99152074	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs547616548	chr10:99152088-99152089	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs566025255	chr10:99152134-99152135	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs188498472	chr10:99152287-99152288	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
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
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
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	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
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Glioblastoma multiforme	22286061	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16912164	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autosomal dominant partial epilepsy	18472482	CNVD
Breast cancer	16397240	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:208 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99109000-99157800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr10:99109600-99157800	Strong transcription	Fetal Stomach	stomach
3	chr10:99113400-99158600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr10:99113800-99158800	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr10:99113800-99159800	Weak transcription	Fetal Brain Male	brain
6	chr10:99114600-99159000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr10:99115400-99157600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr10:99115600-99159800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr10:99115800-99157800	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr10:99115800-99157800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr10:99115800-99158600	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr10:99118000-99159800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr10:99121000-99157600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr10:99121000-99159600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr10:99121200-99159600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr10:99122400-99158800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr10:99122800-99159200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr10:99127000-99157600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr10:99127400-99157600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr10:99127800-99157600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr10:99128200-99156600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr10:99128400-99151000	Strong transcription	Skeletal Muscle Male	skeletal muscle
23	chr10:99128400-99159800	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr10:99129600-99159200	Strong transcription	Osteobl	bone
25	chr10:99130800-99159600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr10:99131600-99158400	Strong transcription	Fetal Muscle Trunk	muscle
27	chr10:99132000-99157600	Strong transcription	Fetal Muscle Leg	muscle
28	chr10:99136200-99153800	Strong transcription	Adipose Nuclei	Adipose
29	chr10:99136400-99152000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr10:99136400-99156600	Strong transcription	Brain Anterior Caudate	brain
31	chr10:99136400-99157400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr10:99136400-99157800	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr10:99137600-99153600	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr10:99141000-99159800	Weak transcription	Stomach Mucosa	stomach
35	chr10:99142200-99159200	Strong transcription	Fetal Intestine Small	intestine
36	chr10:99142600-99156600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr10:99142800-99151200	Strong transcription	NHEK	skin
38	chr10:99142800-99157600	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr10:99143000-99151000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr10:99143000-99151000	Strong transcription	Placenta	Placenta
41	chr10:99143000-99151200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
42	chr10:99143000-99156400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr10:99143000-99157000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr10:99143000-99157200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr10:99143000-99157800	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr10:99143200-99157600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr10:99143800-99151000	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr10:99144000-99151200	Strong transcription	Fetal Intestine Large	intestine
49	chr10:99144200-99151000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr10:99144800-99152000	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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