Variant report

Variant	rs6761111
Chromosome Location	chr2:172883568-172883569
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:172872308..172874513-chr2:172883342..172886066,2	MCF-7	breast:
2	chr2:172880890..172883813-chr2:172885436..172887540,3	K562	blood:
3	chr2:172882349..172884255-chr2:172963176..172965606,2	K562	blood:
4	chr2:172865192..172866696-chr2:172882365..172884619,2	K562	blood:
5	chr2:172880544..172883813-chr2:172885436..172889250,4	K562	blood:
6	chr2:172881211..172884149-chr2:172956604..172958164,2	K562	blood:
7	chr2:172871676..172873421-chr2:172883167..172884730,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000172878	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1008152	0.92[AMR][1000 genomes]
rs12622895	0.85[CEU][hapmap]
rs17428076	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17428174	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17500114	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3736499	0.84[CEU][hapmap]
rs3765166	0.85[CEU][hapmap]
rs3821093	0.84[CEU][hapmap]
rs55791993	0.82[AMR][1000 genomes]
rs55863868	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56218609	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62183804	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62183808	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62183809	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62183811	0.83[AMR][1000 genomes]
rs62183817	0.81[AMR][1000 genomes]
rs62183851	0.81[AMR][1000 genomes]
rs62183852	0.92[AMR][1000 genomes]
rs62183853	0.81[AMR][1000 genomes]
rs6704590	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6737876	0.92[AMR][1000 genomes]
rs6749895	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72892835	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72892859	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs788161	0.86[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs788164	0.85[CEU][hapmap]
rs788168	0.85[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2830399	chr2:172781830-172952526	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv1012188	chr2:172855923-172928891	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv3031	chr2:172867462-172884232	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172865200-172886600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:172865600-172897400	Weak transcription	Primary T cells from cord blood	blood
3	chr2:172865800-172886400	Weak transcription	Fetal Intestine Small	intestine
4	chr2:172865800-172886600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:172866000-172886800	Weak transcription	HSMMtube	muscle
6	chr2:172874200-172886400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:172878200-172884800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:172878200-172886400	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:172878400-172886000	Weak transcription	HepG2	liver
10	chr2:172878600-172886400	Weak transcription	Ovary	ovary
11	chr2:172878600-172886600	Weak transcription	Psoas Muscle	Psoas
12	chr2:172878600-172898200	Weak transcription	Primary B cells from cord blood	blood
13	chr2:172878800-172886600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:172882000-172886800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:172883000-172883600	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr2:172883000-172883600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr2:172883400-172883600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr2:172883400-172886200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr2:172883400-172886200	Weak transcription	K562	blood

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