Variant report

Variant	nsv948156
Chromosome Location	chr10:99067716-99072148
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr10:99068141-99068401	HepG2	liver:	n/a	n/a
2	CEBPB	chr10:99071218-99071231	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr10:99068265-99068420	HepG2	liver:	n/a	n/a
4	CEBPB	chr10:99068155-99068490	A549	lung:	n/a	n/a
5	CEBPB	chr10:99071199-99071358	A549	lung:	n/a	n/a
6	CEBPB	chr10:99068144-99068523	IMR90	lung:	n/a	n/a
7	CEBPB	chr10:99068119-99068533	HepG2	liver:	n/a	n/a
8	EP300	chr10:99068225-99068379	HepG2	liver:	n/a	n/a
9	FOXA1	chr10:99068077-99068413	HepG2	liver:	n/a	n/a
10	FOXA1	chr10:99068048-99068406	HepG2	liver:	n/a	n/a
11	FOXA2	chr10:99068137-99068414	HepG2	liver:	n/a	n/a
12	HEY1	chr10:99069613-99069780	K562	blood:	n/a	n/a
13	HEY1	chr10:99069618-99069769	HepG2	liver:	n/a	n/a
14	JUND	chr10:99069261-99069569	HepG2	liver:	n/a	n/a
15	MAFK	chr10:99069357-99069402	HepG2	liver:	n/a	n/a
16	MAFK	chr10:99069377-99069429	HepG2	liver:	n/a	n/a
17	MAX	chr10:99071141-99071309	NB4	blood:	n/a	n/a
18	POLR2A	chr10:99069595-99069738	GM12878	blood:	n/a	n/a
19	POLR2A	chr10:99069585-99069826	GM12878	blood:	n/a	n/a
20	POLR2A	chr10:99069018-99069140	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr10:99071715-99071817	K562	blood:	n/a	n/a
22	POLR2A	chr10:99069634-99069754	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr10:99071912-99071995	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr10:99069636-99069751	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr10:99069615-99069877	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr10:99069549-99069791	GM12891	blood:	n/a	n/a
27	POLR2A	chr10:99069630-99069760	A549	lung:	n/a	n/a
28	POLR2A	chr10:99069661-99069730	A549	lung:	n/a	n/a
29	POLR2A	chr10:99069618-99069770	GM12878	blood:	n/a	n/a
30	POLR2A	chr10:99069648-99069760	GM12878	blood:	n/a	n/a
31	POLR2A	chr10:99069666-99069722	A549	lung:	n/a	n/a
32	POLR2A	chr10:99069615-99069734	A549	lung:	n/a	n/a
33	POLR2A	chr10:99069026-99069131	H1-hESC	embryonic stem cell:	n/a	n/a
34	REST	chr10:99069012-99069146	H1-hESC	embryonic stem cell:	n/a	n/a
35	RFX5	chr10:99070735-99070743	K562	blood:	n/a	n/a
36	SMC3	chr10:99068226-99068298	HepG2	liver:	n/a	n/a
37	STAT3	chr10:99072051-99072106	MCF10A-Er-Src	breast:	n/a	n/a
38	TAF1	chr10:99069602-99069807	H1-hESC	embryonic stem cell:	n/a	n/a
39	YY1	chr10:99071096-99071306	K562	blood:	n/a	n/a
40	ZNF384	chr10:99068798-99069137	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:99066273..99068879-chr10:99069326..99071417,2	K562	blood:
2	chr10:99070639..99072420-chr10:99078021..99080408,2	MCF-7	breast:
3	chr10:99067120..99069373-chr10:99092057..99094640,2	MCF-7	breast:
4	chr10:99066690..99071389-chr10:99076606..99080814,5	MCF-7	breast:
5	chr10:99066210..99068899-chr10:99092992..99095167,2	K562	blood:
6	chr10:99069668..99072343-chr10:99094033..99096294,2	MCF-7	breast:
7	chr10:99067399..99070806-chr10:99092978..99095924,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000237169	TF binding region
ENSG00000225850	chromatin interactions
ENSG00000165879	chromatin interactions
ENSG00000237169	chromatin interactions
ENSG00000181274	chromatin interactions

Extended variants
information (count: 196 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:196 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536145109	chr10:99067756-99067757	Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs548495330	chr10:99067789-99067790	Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs7076009	chr10:99067809-99067810	Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs7075761	chr10:99067828-99067829	Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs4919086	chr10:99067833-99067834	Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs577426890	chr10:99067868-99067869	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs182601833	chr10:99067893-99067894	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs186727024	chr10:99067894-99067895	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs190642513	chr10:99067916-99067917	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs373441111	chr10:99067990-99067991	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs550321515	chr10:99068047-99068048	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs151276104	chr10:99068111-99068112	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs542143453	chr10:99068128-99068129	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs181123447	chr10:99068169-99068170	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs59728887	chr10:99068364-99068365	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs59618309	chr10:99068380-99068381	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs557453230	chr10:99068394-99068395	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs532073241	chr10:99068407-99068408	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs550690253	chr10:99068419-99068420	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs562326510	chr10:99068458-99068459	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs529718852	chr10:99068474-99068475	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs148609991	chr10:99068484-99068485	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs185565522	chr10:99068530-99068531	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs567316447	chr10:99068550-99068551	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs527444623	chr10:99068569-99068570	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs552405460	chr10:99068572-99068573	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs111894383	chr10:99068574-99068575	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs545168045	chr10:99068583-99068584	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs570708172	chr10:99068588-99068589	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs575657071	chr10:99068592-99068593	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs556654083	chr10:99068593-99068594	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs189585078	chr10:99068623-99068624	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs142138856	chr10:99068649-99068650	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs534133736	chr10:99068722-99068723	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs572408393	chr10:99068732-99068733	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs10786325	chr10:99068738-99068739	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs562363451	chr10:99068750-99068751	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs557920748	chr10:99068761-99068762	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs576607921	chr10:99068770-99068771	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs543947731	chr10:99068782-99068783	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs562622497	chr10:99068783-99068784	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs529626077	chr10:99068794-99068795	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs140674552	chr10:99068827-99068828	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs530098761	chr10:99068840-99068841	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs541820976	chr10:99068841-99068842	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs112556146	chr10:99068847-99068848	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs560443792	chr10:99068896-99068897	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs368336844	chr10:99068897-99068898	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs73326879	chr10:99068956-99068957	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs58075430	chr10:99068998-99068999	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Melanoma	20877625	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99066600-99068200	Enhancers	Liver	Liver
2	chr10:99067000-99068000	Enhancers	K562	blood
3	chr10:99067200-99067800	Bivalent Enhancer	HepG2	liver
4	chr10:99067200-99068000	Enhancers	Psoas Muscle	Psoas
5	chr10:99067200-99068200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr10:99067200-99068400	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr10:99067200-99068600	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr10:99067200-99068800	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr10:99067200-99069000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr10:99067600-99068000	Enhancers	Aorta	Aorta
11	chr10:99067800-99069800	Enhancers	HepG2	liver
12	chr10:99068000-99072000	Weak transcription	K562	blood
13	chr10:99068200-99069400	Weak transcription	Liver	Liver
14	chr10:99068800-99072800	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr10:99069000-99073200	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr10:99069000-99073600	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr10:99069400-99069800	Enhancers	Liver	Liver
18	chr10:99069800-99075400	Weak transcription	HepG2	liver
19	chr10:99071000-99071600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr10:99072000-99073000	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links