Variant report

Variant	rs414341
Chromosome Location	chr17:63128261-63128262
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:63118923..63121518-chr17:63126607..63128778,3	K562	blood:
2	chr17:63128086..63129836-chr17:63224877..63226699,2	K562	blood:
3	chr17:62970044..62972484-chr17:63125849..63128468,2	MCF-7	breast:
4	chr17:63109946..63111950-chr17:63125496..63128407,2	MCF-7	breast:
5	chr17:63117748..63120899-chr17:63122110..63128969,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214174	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1530351	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs1533336	0.85[CEU][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs186167	0.94[ASN][1000 genomes]
rs1867212	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1867213	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2007835	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2585859	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs299820	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs299821	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs299824	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs299834	0.82[JPT][hapmap];1.00[ASN][1000 genomes]
rs299837	1.00[ASN][1000 genomes]
rs299838	1.00[ASN][1000 genomes]
rs299842	0.82[ASW][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4790958	0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs4791230	0.86[EUR][1000 genomes]
rs510199	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8079386	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530764	chr17:62939944-63278472	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv527042	chr17:63123532-63128261	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63119800-63133600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr17:63124000-63132600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:63126800-63129000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr17:63126800-63129000	Enhancers	Fetal Intestine Small	intestine
5	chr17:63127000-63129000	Enhancers	NHDF-Ad	bronchial
6	chr17:63127200-63128400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr17:63127400-63128400	Enhancers	NHLF	lung
8	chr17:63127400-63128600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr17:63127400-63129000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr17:63127400-63133000	Weak transcription	GM12878-XiMat	blood
11	chr17:63127600-63129000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr17:63127600-63133000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr17:63127800-63128400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr17:63127800-63129000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr17:63128000-63128400	Enhancers	NH-A	brain
16	chr17:63128000-63132800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr17:63128200-63128400	Enhancers	A549	lung
18	chr17:63128200-63129000	Enhancers	HepG2	liver
19	chr17:63128200-63129400	Weak transcription	Liver	Liver
20	chr17:63128200-63133000	Weak transcription	Fetal Intestine Large	intestine
21	chr17:63128200-63133200	Weak transcription	Osteobl	bone

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