Variant report

Variant	rs2222277
Chromosome Location	chr4:142598894-142598895
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:142597917..142599701-chr4:142616061..142617565,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1021446	0.88[EUR][1000 genomes]
rs10519612	0.88[EUR][1000 genomes]
rs10519613	0.88[EUR][1000 genomes]
rs10519614	0.85[EUR][1000 genomes]
rs13106911	0.92[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs13107813	0.88[EUR][1000 genomes]
rs1389102	0.85[EUR][1000 genomes]
rs17007636	0.85[EUR][1000 genomes]
rs17007642	0.85[EUR][1000 genomes]
rs17461899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1907949	0.88[EUR][1000 genomes]
rs2131412	0.91[EUR][1000 genomes]
rs34468566	0.92[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs35514738	0.88[EUR][1000 genomes]
rs35636124	0.85[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs3775596	0.88[EUR][1000 genomes]
rs3775597	0.88[EUR][1000 genomes]
rs58934440	0.86[EUR][1000 genomes]
rs62327424	0.92[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs67013870	0.85[EUR][1000 genomes]
rs957077	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880173	chr4:142355535-142666106	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3401979	chr4:142434442-142803321	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1018949	chr4:142451823-142732365	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1030822	chr4:142487721-142706053	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1027004	chr4:142487721-143007320	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:142583400-142634600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:142589800-142599000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:142589800-142600000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr4:142590800-142599000	Weak transcription	NHDF-Ad	bronchial
5	chr4:142593200-142599000	Weak transcription	Psoas Muscle	Psoas
6	chr4:142597400-142599000	Enhancers	Fetal Intestine Small	intestine
7	chr4:142597400-142599400	Enhancers	Fetal Intestine Large	intestine
8	chr4:142597400-142600000	Enhancers	A549	lung
9	chr4:142597800-142599400	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr4:142597800-142599800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr4:142597800-142607600	Weak transcription	Small Intestine	intestine
12	chr4:142598000-142600200	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr4:142598200-142599400	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr4:142598600-142601800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:142598800-142599200	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr4:142598800-142599200	Enhancers	Stomach Mucosa	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links