Variant report

Variant	esv3318051
Chromosome Location	chr10:51909746-51913944
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:51912768-51912811	Spleen_OC	spleen:	n/a	n/a
2	CTCF	chr10:51912640-51912790	SK-N-SH_RA	brain:	n/a	n/a
3	CTCF	chr10:51912652-51912757	GM13976	blood:	n/a	n/a
4	CTCF	chr10:51913311-51913342	GM20000	blood:	n/a	n/a
5	CTCF	chr10:51912475-51912606	Kidney_OC	kidney:	n/a	n/a
6	CTCF	chr10:51913213-51913304	GM20000	blood:	n/a	n/a
7	CTCF	chr10:51911548-51911674	GM20000	blood:	n/a	n/a
8	CTCF	chr10:51912418-51912442	Lung_OC	lung:	n/a	n/a
9	CTCF	chr10:51912578-51912723	K562	blood:	n/a	n/a
10	CTCF	chr10:51912630-51912712	GM19240	blood:	n/a	n/a
11	CTCF	chr10:51912755-51912759	Spleen_OC	spleen:	n/a	n/a
12	USF1	chr10:51912411-51912645	HepG2	liver:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:51912631-51912681	HIPEpiC	eye:	n/a
2	chr10:51912631-51912681	Jurkat	blood:	n/a
3	chr10:51912631-51912681	AG10803	skin:	n/a
4	chr10:51911889-51911939	ProgFib	skin:	n/a
5	chr10:51912631-51912681	GM12891	blood:	n/a
6	chr10:51912805-51912855	A549	lung:	n/a
7	chr10:51912805-51912855	Caco-2	colon:	n/a
8	chr10:51911889-51911939	HPAEpiC	pulmonary alveolar:	n/a
9	chr10:51911889-51911939	SK-N-SH_RA	brain:	n/a
10	chr10:51912805-51912855	GM06990	blood:	n/a
11	chr10:51911889-51911939	NT2-D1	testis:	n/a
12	chr10:51912805-51912855	ECC-1	luminal epithelium:	n/a
13	chr10:51912631-51912681	Hepatocyte	liver:	n/a
14	chr10:51911889-51911939	AG04449	skin:	fetal
15	chr10:51911889-51911939	HCM	heart:	n/a
16	chr10:51912805-51912855	SK-N-SH_RA	brain:	n/a
17	chr10:51912631-51912681	SK-N-SH_RA	brain:	n/a
18	chr10:51912631-51912681	HPAEpiC	pulmonary alveolar:	n/a
19	chr10:51912805-51912855	GM12892	blood:	n/a
20	chr10:51911889-51911939	HAEpiC	amniotic membrane:	n/a
21	chr10:51911889-51911939	SK-N-MC	brain:	n/a
22	chr10:51911889-51911939	H1-hESC	embryonic stem cell:	embryo
23	chr10:51912631-51912681	AG09309	skin:	n/a
24	chr10:51912631-51912681	HL-60	blood:	n/a
25	chr10:51912631-51912681	K562	blood:	n/a
26	chr10:51911889-51911939	ECC-1	luminal epithelium:	n/a
27	chr10:51911889-51911939	GM06990	blood:	n/a
28	chr10:51912805-51912855	HRPEpiC	eye:	n/a
29	chr10:51911889-51911939	AG04450	lung:	fetal
30	chr10:51912805-51912855	HCT-116	colon:	n/a
31	chr10:51911889-51911939	HRPEpiC	eye:	n/a
32	chr10:51912805-51912855	AG09309	skin:	n/a
33	chr10:51912805-51912855	HMEC	breast:	n/a
34	chr10:51911889-51911939	NHBE	bronchial:	n/a
35	chr10:51911889-51911939	Hela-S3	cervix:	n/a
36	chr10:51911889-51911939	PANC-1	pancreas:	n/a
37	chr10:51911889-51911939	HMEC	breast:	n/a
38	chr10:51912805-51912855	GM19239	blood:	n/a
39	chr10:51912631-51912681	HNPCEpiC	eye:	n/a
40	chr10:51911889-51911939	HUVEC	blood vessel:	n/a
41	chr10:51912805-51912855	HRE	kidney:	n/a
42	chr10:51912805-51912855	BE2_C	brain:	n/a
43	chr10:51912805-51912855	HepG2	liver:	n/a
44	chr10:51912631-51912681	IMR90	lung:	fetal
45	chr10:51912805-51912855	PrEC	prostate:	n/a
46	chr10:51911889-51911939	PFSK-1	brain:	n/a
47	chr10:51912631-51912681	AoSMC	blood vessel:	n/a
48	chr10:51912631-51912681	T-47D	breast:	n/a
49	chr10:51912805-51912855	HCM	heart:	n/a
50	chr10:51911889-51911939	CMK	blood:	n/a

No data

Variant related genes	Relation type
SLC9A3P1	TF binding region
SLC9A3P1	CpG island

Extended variants
information (count: 16 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373734862	chr10:51912610-51912611	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs111416498	chr10:51912616-51912617	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs2805271	chr10:51912623-51912624	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs377528559	chr10:51912644-51912645	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs2813269	chr10:51912648-51912649	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs548578905	chr10:51912708-51912709	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs568438105	chr10:51912778-51912779	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs2813267	chr10:51912781-51912782	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs527704853	chr10:51912799-51912800	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs547831987	chr10:51912806-51912807	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs570862211	chr10:51912839-51912840	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs540021628	chr10:51912895-51912896	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs550149056	chr10:51912929-51912930	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs112620061	chr10:51912958-51912959	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs112475578	chr10:51912961-51912962	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs2813266	chr10:51912962-51912963	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Cancer	21183584	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
Chronic lymphocytic leukemia	21546498	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21785460	CNVD
Intellectual disability	21948486	CNVD
Intellectual disability	22045946	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
skeletal anomalies	21948486	CNVD
Autism	21948486	CNVD
speech delay	21948486	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:51912600-51913000	Active TSS	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links