Variant report

Variant	rs10176461
Chromosome Location	chr2:114736940-114736941
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:114736940-114737639	HepG2	liver:	n/a	n/a
2	CTCF	chr2:114736937-114737829	HCT-116	colon:	n/a	n/a
3	MYBL2	chr2:114734478-114738477	HepG2	liver:	n/a	n/a
4	RXRA	chr2:114736910-114737656	GM12878	blood:	n/a	n/a
5	FOXM1	chr2:114736846-114737734	GM12878	blood:	n/a	n/a
6	FOXA2	chr2:114736928-114737686	A549	lung:	n/a	n/a
7	POLR2A	chr2:114734270-114737182	HepG2	liver:	n/a	n/a
8	CREB1	chr2:114734601-114737261	HepG2	liver:	n/a	n/a
9	HEY1	chr2:114734625-114737653	HepG2	liver:	n/a	n/a
10	STAT5A	chr2:114736921-114737930	GM12878	blood:	n/a	chr2:114737601-114737612
11	ZBTB33	chr2:114736934-114737794	K562	blood:	n/a	n/a
12	CTCF	chr2:114736823-114738026	A549	lung:	n/a	chr2:114736847-114736860
13	RCOR1	chr2:114736890-114736994	HepG2	liver:	n/a	n/a
14	RXRA	chr2:114736860-114737707	HepG2	liver:	n/a	n/a
15	POU2F2	chr2:114736927-114737755	GM12878	blood:	n/a	n/a
16	POLR2A	chr2:114735637-114737128	HepG2	liver:	n/a	n/a
17	CTCF	chr2:114736915-114737717	MCF-7	breast:	n/a	n/a
18	POLR2A	chr2:114734147-114737194	HepG2	liver:	n/a	n/a
19	POU2F2	chr2:114736935-114737709	GM12891	blood:	n/a	n/a
20	CBX3	chr2:114736940-114737718	K562	blood:	n/a	n/a
21	POLR2A	chr2:114736876-114737705	GM12891	blood:	n/a	n/a
22	POLR2A	chr2:114736912-114737777	GM12878	blood:	n/a	n/a
23	MXI1	chr2:114734998-114738201	HepG2	liver:	n/a	n/a
24	CTCF	chr2:114736929-114737745	K562	blood:	n/a	n/a
25	PAX5	chr2:114736904-114737768	GM12878	blood:	n/a	n/a
26	MYBL2	chr2:114736920-114738397	HepG2	liver:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACTR3-1	chr2:114735195-114737211	NONHSAT073855
2	lnc-SLC35F5-19	chr2:114736482-114737401	NONHSAT073858

No data

Variant related genes	Relation type
ENSG00000243179	TF binding region
ENSG00000234199	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs156667	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs156713	0.82[ASN][1000 genomes]
rs156731	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2046543	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs275417	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs276316	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs276318	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs276819	0.84[ASN][1000 genomes]
rs276821	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6741208	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7606387	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1322617	chr2:114736931-114736960	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114705200-114737600	Weak transcription	Esophagus	oesophagus
2	chr2:114715000-114744000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr2:114715600-114737000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:114718800-114743200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:114729600-114737000	Weak transcription	Placenta	Placenta
6	chr2:114732400-114737400	Weak transcription	Lung	lung
7	chr2:114733400-114737400	Weak transcription	GM12878-XiMat	blood
8	chr2:114733400-114741200	Weak transcription	Liver	Liver
9	chr2:114733400-114743800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr2:114733800-114741600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr2:114734000-114737200	Enhancers	HMEC	breast
12	chr2:114734000-114737800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr2:114734000-114738000	Enhancers	Pancreas	Pancrea
14	chr2:114734000-114746000	Weak transcription	Aorta	Aorta
15	chr2:114734000-114751800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr2:114734200-114737000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr2:114734200-114737800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:114734400-114749800	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr2:114734600-114738200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:114734800-114741800	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr2:114734800-114742400	Weak transcription	Primary B cells from cord blood	blood
22	chr2:114734800-114744000	Weak transcription	Primary T cells from cord blood	blood
23	chr2:114735000-114737400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:114735200-114737200	Weak transcription	Thymus	Thymus
25	chr2:114735200-114737400	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr2:114736000-114737200	Flanking Active TSS	HepG2	liver
27	chr2:114736000-114737600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:114736000-114737600	Weak transcription	Osteobl	bone
29	chr2:114736000-114737800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:114736000-114738200	Weak transcription	NHDF-Ad	bronchial
31	chr2:114736000-114742600	Weak transcription	NHLF	lung
32	chr2:114736200-114737600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:114736200-114738600	Weak transcription	HUVEC	blood vessel
34	chr2:114736200-114740200	Weak transcription	HSMM	muscle
35	chr2:114736200-114741200	Weak transcription	Gastric	stomach
36	chr2:114736200-114761000	Weak transcription	HSMMtube	muscle
37	chr2:114736400-114737000	Strong transcription	Spleen	Spleen
38	chr2:114736400-114737800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:114736400-114737800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:114736600-114737400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:114736600-114737400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:114736600-114737800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:114736600-114738800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
44	chr2:114736600-114738800	Weak transcription	NH-A	brain
45	chr2:114736800-114737000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:114736800-114737000	Weak transcription	Fetal Intestine Small	intestine
47	chr2:114736800-114737200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:114736800-114737800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:114736800-114737800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
50	chr2:114736800-114737800	Weak transcription	NHEK	skin

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