Variant report

Variant	rs10171049
Chromosome Location	chr2:179621864-179621865
allele	A/G
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	JUND	chr2:179621427-179622074	SK-N-SH	brain:	n/a	chr2:179621737-179621744
2	MAX	chr2:179621442-179621898	SK-N-SH	brain:	n/a	n/a
3	FOS	chr2:179621620-179621886	MCF10A-Er-Src	breast:	n/a	chr2:179621737-179621744
4	GATA3	chr2:179621276-179622091	SK-N-SH	brain:	n/a	chr2:179621831-179621838
5	TCF12	chr2:179621271-179622114	SK-N-SH	brain:	n/a	n/a
6	STAT3	chr2:179621760-179621960	MCF10A-Er-Src	breast:	n/a	n/a
7	EP300	chr2:179621266-179622095	SK-N-SH	brain:	n/a	chr2:179621973-179621987 chr2:179621544-179621558
8	POLR2A	chr2:179621460-179621881	SK-N-SH	brain:	n/a	n/a
9	FOS	chr2:179621569-179621891	MCF10A-Er-Src	breast:	n/a	chr2:179621737-179621744
10	FOSL2	chr2:179621499-179621948	SK-N-SH	brain:	n/a	chr2:179621737-179621744
11	PBX3	chr2:179621254-179621994	SK-N-SH	brain:	n/a	n/a
12	NFIC	chr2:179621388-179622026	SK-N-SH	brain:	n/a	n/a
13	PBX3	chr2:179621335-179621984	SK-N-SH	brain:	n/a	n/a
14	TCF12	chr2:179621045-179622128	SK-N-SH	brain:	n/a	n/a
15	GATA3	chr2:179621327-179622088	SK-N-SH	brain:	n/a	chr2:179621831-179621838
16	JUND	chr2:179621410-179622078	SK-N-SH	brain:	n/a	chr2:179621737-179621744
17	CEBPB	chr2:179621569-179622100	IMR90	lung:	n/a	chr2:179621976-179621987 chr2:179621975-179621988
18	FOSL2	chr2:179621358-179622082	SK-N-SH	brain:	n/a	chr2:179621737-179621744

Variant related genes	Relation type
TTN-AS1	TF binding region

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10221590	1.00[YRI][hapmap]
rs10497522	0.82[YRI][hapmap]
rs11888217	0.86[ASW][hapmap]
rs11895382	1.00[ASW][hapmap];0.84[GIH][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs11902709	0.87[CHB][hapmap];0.83[CHD][hapmap];0.87[ASN][1000 genomes]
rs12464703	0.81[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs12465449	0.84[AMR][1000 genomes]
rs12470905	0.81[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs12476289	0.84[ASN][1000 genomes]
rs13421990	0.81[GIH][hapmap]
rs1484120	1.00[YRI][hapmap]
rs16866497	0.94[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16866519	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs16866532	0.81[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs1883084	0.87[ASN][1000 genomes]
rs1883085	0.87[CHB][hapmap];0.83[CHD][hapmap];0.87[ASN][1000 genomes]
rs2054708	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs2243804	0.87[CHB][hapmap];0.85[ASN][1000 genomes]
rs2253324	0.81[CHB][hapmap];0.83[CHD][hapmap];0.87[ASN][1000 genomes]
rs2255480	0.87[CHB][hapmap];0.83[CHD][hapmap];0.85[ASN][1000 genomes]
rs2291304	0.81[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs2291305	0.86[ASN][1000 genomes]
rs2291308	0.81[CHB][hapmap];0.81[CHD][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs2291309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2291310	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2291311	1.00[CEU][hapmap];0.87[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2291312	0.86[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2306636	0.81[CHB][hapmap];0.81[CHD][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs2562829	0.87[CHB][hapmap];0.83[CHD][hapmap];0.87[ASN][1000 genomes]
rs2562832	0.87[CHB][hapmap];0.83[CHD][hapmap];0.85[ASN][1000 genomes]
rs2562833	0.86[ASN][1000 genomes]
rs2562835	0.87[CHB][hapmap];0.83[CHD][hapmap];0.85[ASN][1000 genomes]
rs2562837	0.87[CHB][hapmap];0.85[ASN][1000 genomes]
rs2562841	0.87[CHB][hapmap];0.85[ASN][1000 genomes]
rs2562842	0.84[ASN][1000 genomes]
rs2562852	0.87[CHB][hapmap];0.85[ASN][1000 genomes]
rs2562853	0.87[CHB][hapmap];0.83[CHD][hapmap];0.85[ASN][1000 genomes]
rs2562854	0.83[CHB][hapmap];0.85[ASN][1000 genomes]
rs2627034	0.84[ASN][1000 genomes]
rs2627037	0.89[CEU][hapmap];0.87[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2627040	0.87[CHB][hapmap];0.83[CHD][hapmap];0.87[ASN][1000 genomes]
rs2627041	0.87[ASN][1000 genomes]
rs2627042	0.87[CHB][hapmap];0.91[CHD][hapmap];0.82[GIH][hapmap];0.87[ASN][1000 genomes]
rs2627044	0.87[CHB][hapmap];0.83[CHD][hapmap];0.85[ASN][1000 genomes]
rs2742328	0.87[CHB][hapmap];0.83[CHD][hapmap];0.85[ASN][1000 genomes]
rs2742329	0.87[CHB][hapmap];0.83[CHD][hapmap];0.84[ASN][1000 genomes]
rs2742330	0.87[CHB][hapmap];0.83[CHD][hapmap];0.85[ASN][1000 genomes]
rs2742332	0.87[CHB][hapmap];0.83[CHD][hapmap];0.85[ASN][1000 genomes]
rs2742333	0.87[CHB][hapmap];0.85[ASN][1000 genomes]
rs2742334	0.87[CHB][hapmap];0.84[ASN][1000 genomes]
rs2742335	0.87[CHB][hapmap];0.84[ASN][1000 genomes]
rs2742336	0.87[CHB][hapmap];0.83[ASN][1000 genomes]
rs2742337	0.87[CHB][hapmap];0.83[CHD][hapmap];0.84[ASN][1000 genomes]
rs2742339	0.87[CHB][hapmap];0.84[ASN][1000 genomes]
rs2742340	0.87[CHB][hapmap];0.83[CHD][hapmap];0.84[ASN][1000 genomes]
rs2742341	0.85[ASN][1000 genomes]
rs2742342	0.85[ASN][1000 genomes]
rs2742343	0.87[CHB][hapmap];0.80[CHD][hapmap];0.84[ASN][1000 genomes]
rs2742344	0.87[CHB][hapmap];0.83[CHD][hapmap];0.84[ASN][1000 genomes]
rs2742345	0.87[CHB][hapmap];0.91[CHD][hapmap];0.86[ASN][1000 genomes]
rs2742347	0.87[CHB][hapmap];0.83[CHD][hapmap];0.87[ASN][1000 genomes]
rs2742357	0.87[CHB][hapmap];0.83[CHD][hapmap];0.87[ASN][1000 genomes]
rs3754953	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4893853	0.86[ASW][hapmap];0.84[GIH][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs4894037	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4894040	1.00[YRI][hapmap]
rs4894041	1.00[YRI][hapmap]
rs4894045	1.00[YRI][hapmap]
rs4894048	0.81[GIH][hapmap]
rs55863869	0.85[ASN][1000 genomes]
rs56120016	0.92[ASN][1000 genomes]
rs56142888	0.85[ASN][1000 genomes]
rs66677602	0.92[ASN][1000 genomes]
rs72647887	0.87[AFR][1000 genomes]
rs72647888	0.87[AFR][1000 genomes]
rs72647889	0.88[ASN][1000 genomes]
rs72648917	0.92[ASN][1000 genomes]
rs7423101	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs7585334	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7604033	0.86[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs922984	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834470	chr2:179555152-179728726	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv934108	chr2:179556852-179729925	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179483200-179655400	Weak transcription	Adipose Nuclei	Adipose
2	chr2:179533600-179669200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr2:179577800-179640800	Weak transcription	Fetal Intestine Large	intestine
4	chr2:179588200-179622800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr2:179590800-179640400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr2:179598600-179622200	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr2:179605400-179662400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:179610800-179671400	Weak transcription	Ovary	ovary
9	chr2:179613000-179623600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr2:179614200-179626400	Strong transcription	Primary T cells from cord blood	blood
11	chr2:179614200-179645200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr2:179614400-179632400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr2:179614800-179626600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr2:179614800-179628800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr2:179617200-179627800	Weak transcription	Psoas Muscle	Psoas
16	chr2:179617400-179622600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr2:179618600-179626600	Genic enhancers	Fetal Heart	heart
18	chr2:179619000-179636000	Strong transcription	Left Ventricle	heart
19	chr2:179619200-179630400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr2:179619400-179625800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
21	chr2:179619600-179622600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
22	chr2:179620000-179622000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr2:179620400-179622000	Weak transcription	Fetal Muscle Leg	muscle
24	chr2:179620600-179634400	Weak transcription	Brain Anterior Caudate	brain
25	chr2:179620800-179622400	Enhancers	HSMM	muscle
26	chr2:179620800-179622800	Enhancers	NHDF-Ad	bronchial
27	chr2:179620800-179624200	Strong transcription	Primary B cells from cord blood	blood
28	chr2:179621000-179622000	Enhancers	NH-A	brain
29	chr2:179621000-179622600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:179621000-179622600	Genic enhancers	HSMMtube	muscle
31	chr2:179621000-179623000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:179621000-179623000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:179621000-179623000	Enhancers	HMEC	breast
34	chr2:179621200-179622000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:179621200-179622000	Enhancers	NHLF	lung
36	chr2:179621200-179622200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:179621200-179622200	Enhancers	Muscle Satellite Cultured Cells	--
38	chr2:179621200-179622200	Enhancers	Osteobl	bone
39	chr2:179621200-179622600	Strong transcription	Pancreas	Pancrea
40	chr2:179621200-179622600	Enhancers	NHEK	skin
41	chr2:179621600-179623400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr2:179621800-179622600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:179621800-179629200	Weak transcription	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links