Variant report

Variant	rs8179584
Chromosome Location	chr2:173423066-173423067
allele	G/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	RCOR1	chr2:173423028-173423469	K562	blood:	n/a	n/a
2	MXI1	chr2:173423066-173423543	GM12878	blood:	n/a	n/a
3	KAP1	chr2:173423023-173423583	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173420097..173422198-chr2:173422510..173426199,4	K562	blood:

Variant related genes	Relation type
ENSG00000199866	TF binding region
ENSG00000225205	TF binding region
ENSG00000152256	Chromatin interaction
ENSG00000225205	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1010752	0.88[ASN][1000 genomes]
rs10181851	0.86[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs1075638	0.80[ASN][1000 genomes]
rs10930561	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930562	0.86[CHB][hapmap];0.85[CHD][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs10930563	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10930564	1.00[EUR][1000 genomes]
rs10930565	0.81[ASN][1000 genomes]
rs10930566	0.86[ASN][1000 genomes]
rs10930567	0.86[ASN][1000 genomes]
rs10930568	0.80[ASN][1000 genomes]
rs11904158	0.86[CHB][hapmap];0.85[CHD][hapmap];0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs12465512	0.86[ASN][1000 genomes]
rs12467086	1.00[EUR][1000 genomes]
rs12617037	0.80[ASN][1000 genomes]
rs12620518	0.80[ASN][1000 genomes]
rs13019331	0.81[ASN][1000 genomes]
rs1530864	0.93[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1530865	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1531148	0.84[ASN][1000 genomes]
rs1531149	0.84[ASN][1000 genomes]
rs16860613	1.00[YRI][hapmap]
rs16860632	1.00[YRI][hapmap]
rs16860693	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34051646	0.81[ASN][1000 genomes]
rs3765065	0.86[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs3769321	0.86[CHB][hapmap];0.85[CHD][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs41383947	1.00[YRI][hapmap]
rs41482144	1.00[YRI][hapmap]
rs60127617	0.80[ASN][1000 genomes]
rs61505737	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs62167835	0.83[ASN][1000 genomes]
rs6710129	0.86[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs6718681	0.86[ASN][1000 genomes]
rs6719140	0.86[ASN][1000 genomes]
rs6721300	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs6738196	0.86[CHB][hapmap];0.85[CHD][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs6745412	0.88[AFR][1000 genomes]
rs6752386	0.87[ASN][1000 genomes]
rs70937083	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs70937084	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7584769	0.81[ASN][1000 genomes]
rs836628	0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2760591	chr2:173396905-173719520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv3035	chr2:173419058-173463901	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173419000-173423400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:173419800-173423400	Active TSS	H9 Cell Line	embryonic stem cell
3	chr2:173421400-173423200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr2:173421400-173423200	Flanking Active TSS	Dnd41	blood
5	chr2:173421400-173423200	Flanking Active TSS	NHEK	skin
6	chr2:173421400-173423400	Flanking Active TSS	Primary T cells from cord blood	blood
7	chr2:173421400-173436200	Weak transcription	Spleen	Spleen
8	chr2:173421600-173423400	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr2:173421600-173423400	Transcr. at gene 5' and 3'	K562	blood
10	chr2:173421600-173423400	Flanking Active TSS	NHDF-Ad	bronchial
11	chr2:173421600-173426000	Weak transcription	Esophagus	oesophagus
12	chr2:173421600-173427200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:173421600-173430000	Weak transcription	Gastric	stomach
14	chr2:173421600-173431000	Weak transcription	Aorta	Aorta
15	chr2:173421600-173436000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:173421600-173436000	Weak transcription	Lung	lung
17	chr2:173421600-173453400	Weak transcription	Pancreas	Pancrea
18	chr2:173421800-173423200	Weak transcription	Left Ventricle	heart
19	chr2:173421800-173423400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr2:173421800-173423400	Enhancers	Fetal Kidney	kidney
21	chr2:173421800-173423400	Flanking Active TSS	HMEC	breast
22	chr2:173421800-173423600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr2:173421800-173424600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:173421800-173426000	Weak transcription	HSMMtube	muscle
25	chr2:173421800-173428400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:173421800-173429200	Weak transcription	Placenta	Placenta
27	chr2:173421800-173430000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:173421800-173430000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:173421800-173432000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:173421800-173439000	Weak transcription	Psoas Muscle	Psoas
31	chr2:173421800-173443600	Weak transcription	Ovary	ovary
32	chr2:173421800-173465200	Weak transcription	Small Intestine	intestine
33	chr2:173422000-173423200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr2:173422000-173423400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:173422000-173423600	Flanking Active TSS	Fetal Heart	heart
36	chr2:173422000-173424600	Weak transcription	Fetal Stomach	stomach
37	chr2:173422000-173427000	Weak transcription	HSMM	muscle
38	chr2:173422000-173428000	Weak transcription	NH-A	brain
39	chr2:173422000-173428800	Weak transcription	Brain Hippocampus Middle	brain
40	chr2:173422000-173429400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:173422000-173437600	Weak transcription	A549	lung
42	chr2:173422000-173438600	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr2:173422000-173439000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr2:173422000-173443600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr2:173422200-173423200	Enhancers	Fetal Intestine Small	intestine
46	chr2:173422200-173423400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:173422200-173423400	Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr2:173422200-173423400	Enhancers	Primary B cells from cord blood	blood
49	chr2:173422200-173423400	Active TSS	Colonic Mucosa	Colon
50	chr2:173422200-173423400	Enhancers	Fetal Intestine Large	intestine

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