Variant report

Variant	rs13417630
Chromosome Location	chr2:171806623-171806624
allele	A/T
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	PML	chr2:171806547-171807304	GM12878	blood:	n/a	n/a
2	RUNX3	chr2:171806589-171807233	GM12878	blood:	n/a	n/a
3	RUNX3	chr2:171806514-171807313	GM12878	blood:	n/a	n/a
4	NFATC1	chr2:171806621-171807140	GM12878	blood:	n/a	n/a
5	NFIC	chr2:171806499-171807333	GM12878	blood:	n/a	n/a
6	MTA3	chr2:171806571-171807310	GM12878	blood:	n/a	n/a
7	ATF2	chr2:171806431-171807296	GM12878	blood:	n/a	n/a
8	CREB1	chr2:171806517-171807371	GM12878	blood:	n/a	n/a
9	NFIC	chr2:171806517-171807318	GM12878	blood:	n/a	n/a
10	ATF2	chr2:171806561-171807388	GM12878	blood:	n/a	n/a
11	MEF2A	chr2:171806575-171807149	GM12878	blood:	n/a	chr2:171806916-171806927 chr2:171806914-171806929
12	FOXM1	chr2:171806556-171807422	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
GORASP2	TF binding region

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10168109	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10173304	1.00[EUR][1000 genomes]
rs10174275	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10204442	1.00[EUR][1000 genomes]
rs10754976	1.00[EUR][1000 genomes]
rs10803856	1.00[EUR][1000 genomes]
rs10930452	1.00[EUR][1000 genomes]
rs12621215	1.00[EUR][1000 genomes]
rs13382924	1.00[EUR][1000 genomes]
rs13385649	1.00[EUR][1000 genomes]
rs13395368	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13408916	1.00[EUR][1000 genomes]
rs13415374	1.00[EUR][1000 genomes]
rs13418838	1.00[EUR][1000 genomes]
rs13422667	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13426912	1.00[EUR][1000 genomes]
rs13428121	1.00[EUR][1000 genomes]
rs1863773	1.00[EUR][1000 genomes]
rs2033161	1.00[EUR][1000 genomes]
rs2052809	1.00[EUR][1000 genomes]
rs2059722	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2217151	1.00[EUR][1000 genomes]
rs2217184	1.00[EUR][1000 genomes]
rs2247657	1.00[EUR][1000 genomes]
rs2356372	1.00[EUR][1000 genomes]
rs2555919	1.00[EUR][1000 genomes]
rs2555920	1.00[EUR][1000 genomes]
rs2555921	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2555923	1.00[EUR][1000 genomes]
rs2555924	1.00[EUR][1000 genomes]
rs2555925	1.00[EUR][1000 genomes]
rs2555927	1.00[EUR][1000 genomes]
rs2557800	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2557801	1.00[EUR][1000 genomes]
rs2557805	1.00[EUR][1000 genomes]
rs2676129	1.00[EUR][1000 genomes]
rs2676134	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2676135	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2676146	1.00[EUR][1000 genomes]
rs2676148	1.00[EUR][1000 genomes]
rs2723237	1.00[EUR][1000 genomes]
rs2723244	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2723246	1.00[EUR][1000 genomes]
rs2723247	1.00[EUR][1000 genomes]
rs28499279	1.00[EUR][1000 genomes]
rs28641775	1.00[EUR][1000 genomes]
rs4027753	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4668365	1.00[AMR][1000 genomes]
rs4668366	1.00[EUR][1000 genomes]
rs4668367	1.00[EUR][1000 genomes]
rs6433274	1.00[EUR][1000 genomes]
rs6433279	1.00[EUR][1000 genomes]
rs6433280	1.00[EUR][1000 genomes]
rs6721080	1.00[EUR][1000 genomes]
rs6722314	1.00[EUR][1000 genomes]
rs6732108	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6735986	1.00[EUR][1000 genomes]
rs6749884	1.00[EUR][1000 genomes]
rs6751462	1.00[EUR][1000 genomes]
rs6761606	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73027301	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7560590	1.00[EUR][1000 genomes]
rs7582081	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7584937	1.00[EUR][1000 genomes]
rs964171	1.00[EUR][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	nsv431801	chr2:171721493-171966493	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171787000-171810400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:171787400-171807200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:171787400-171808200	Weak transcription	Aorta	Aorta
4	chr2:171787400-171810000	Weak transcription	Small Intestine	intestine
5	chr2:171787600-171806800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:171787600-171807600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:171787600-171829800	Weak transcription	Right Atrium	heart
8	chr2:171787800-171807000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:171787800-171807400	Weak transcription	Brain Germinal Matrix	brain
10	chr2:171787800-171809200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:171788000-171806800	Weak transcription	Brain Anterior Caudate	brain
12	chr2:171788000-171806800	Weak transcription	A549	lung
13	chr2:171788000-171807600	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:171788000-171808400	Weak transcription	Brain Angular Gyrus	brain
15	chr2:171789600-171810000	Weak transcription	Stomach Mucosa	stomach
16	chr2:171794200-171809200	Weak transcription	Pancreas	Pancrea
17	chr2:171794400-171807200	Weak transcription	Spleen	Spleen
18	chr2:171796400-171806800	Weak transcription	Colon Smooth Muscle	Colon
19	chr2:171796600-171807000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr2:171796800-171808200	Weak transcription	Fetal Heart	heart
21	chr2:171797000-171830600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:171800000-171809000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:171800600-171809200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:171803600-171824600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:171803800-171824400	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr2:171803800-171825600	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr2:171804000-171825000	Strong transcription	HepG2	liver
28	chr2:171804600-171806800	Weak transcription	Ovary	ovary
29	chr2:171804600-171808800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr2:171804600-171817400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:171804800-171824800	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr2:171804800-171825800	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr2:171805000-171817400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:171805000-171819600	Strong transcription	K562	blood
35	chr2:171805000-171824800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:171805000-171825000	Strong transcription	Dnd41	blood
37	chr2:171805200-171824800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:171805400-171807200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr2:171805400-171812800	Strong transcription	Primary hematopoietic stem cells	blood
40	chr2:171805400-171814000	Strong transcription	HUVEC	blood vessel
41	chr2:171805400-171814800	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr2:171805400-171816400	Strong transcription	NHEK	skin
43	chr2:171805400-171824600	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr2:171805400-171825000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr2:171805400-171825200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:171805400-171825400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:171805400-171825600	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr2:171805400-171825800	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr2:171805400-171825800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:171805600-171807200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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