Variant report

Variant	rs10211595
Chromosome Location	chr2:100726476-100726477
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100721042..100723479-chr2:100726255..100727989,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AFF3-1	chr2:100726307-100726795	NONHSAT072770

Variant related genes	Relation type
ENSG00000230393	Chromatin interaction
ENSG00000144218	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10209110	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1062143	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11123804	0.90[ASN][1000 genomes]
rs11123805	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11123811	0.82[CEU][hapmap]
rs1115910	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11681737	0.95[ASN][1000 genomes]
rs11685341	0.80[EUR][1000 genomes]
rs11694875	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12712062	0.87[ASN][1000 genomes]
rs12712063	0.93[ASN][1000 genomes]
rs12712065	0.82[CEU][hapmap]
rs12995420	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12997584	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1370356	0.95[ASN][1000 genomes]
rs1821828	0.96[ASN][1000 genomes]
rs1821829	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2309748	0.96[ASN][1000 genomes]
rs2576678	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2871326	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6542905	0.90[ASN][1000 genomes]
rs6714788	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6733895	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6749757	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6750720	0.85[ASN][1000 genomes]
rs6754099	0.88[ASN][1000 genomes]
rs7558817	0.90[ASN][1000 genomes]
rs7582731	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7599083	0.91[ASN][1000 genomes]
rs7605430	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9308833	0.94[ASN][1000 genomes]
rs961788	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv458707	chr2:100687778-100753490	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv582529	chr2:100687778-100753490	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100722000-100729400	Weak transcription	Dnd41	blood
2	chr2:100722200-100726800	Genic enhancers	Primary B cells from peripheral blood	blood
3	chr2:100722200-100727600	Weak transcription	Primary T cells from cord blood	blood
4	chr2:100722400-100726600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:100722400-100726600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:100722400-100730000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:100723000-100727000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:100725200-100727000	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:100726000-100726800	Strong transcription	Primary hematopoietic stem cells	blood
10	chr2:100726000-100727000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:100726200-100726800	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
12	chr2:100726200-100726800	Enhancers	Rectal Smooth Muscle	rectum
13	chr2:100726200-100727200	Strong transcription	Thymus	Thymus
14	chr2:100726200-100727400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:100726200-100727600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:100726200-100727800	Enhancers	Fetal Thymus	thymus
17	chr2:100726400-100726600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:100726400-100726800	Enhancers	Spleen	Spleen
19	chr2:100726400-100727200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:100726400-100727600	Enhancers	Fetal Heart	heart

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