Variant report

Variant	rs7215497
Chromosome Location	chr17:44952754-44952755
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:44952111..44955510-chr17:44998315..45000785,3	MCF-7	breast:
2	chr17:37392769..37394395-chr17:44952247..44954407,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000262633	Chromatin interaction
ENSG00000210709	Chromatin interaction
ENSG00000261886	Chromatin interaction
ENSG00000108433	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12450286	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12452813	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12452830	1.00[EUR][1000 genomes]
rs12453371	1.00[EUR][1000 genomes]
rs12453477	1.00[EUR][1000 genomes]
rs12453953	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16941159	1.00[EUR][1000 genomes]
rs55807756	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55892126	1.00[AMR][1000 genomes]
rs55904085	1.00[EUR][1000 genomes]
rs60653820	1.00[AMR][1000 genomes]
rs7210725	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7218079	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7224871	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73985115	1.00[AMR][1000 genomes]
rs73985116	1.00[AMR][1000 genomes]
rs73985119	1.00[AMR][1000 genomes]
rs73988218	1.00[AMR][1000 genomes]
rs8073803	1.00[AMR][1000 genomes]
rs8080037	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3492820	chr17:44174959-45161556	Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3492821	chr17:44174959-45161556	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	esv3502492	chr17:44305975-45169159	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv3502493	chr17:44305975-45169159	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv531823	chr17:44485771-45067769	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv908562	chr17:44828931-45102413	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv949295	chr17:44836653-45080757	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
8	nsv428672	chr17:44872446-45023425	Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr17:44936000-44956000	Weak transcription	Right Atrium	heart
2	chr17:44948800-44953600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr17:44949200-44952800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr17:44949400-44953600	Weak transcription	Fetal Intestine Small	intestine
5	chr17:44949800-44953000	Enhancers	Spleen	Spleen
6	chr17:44950800-44957000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr17:44951600-44953800	Weak transcription	Liver	Liver
8	chr17:44951800-44953600	Weak transcription	Placenta	Placenta
9	chr17:44952200-44953000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr17:44952200-44954800	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr17:44952400-44953000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr17:44952400-44956200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr17:44952400-44956200	Enhancers	Pancreas	Pancrea
14	chr17:44952400-44956800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr17:44952600-44952800	Enhancers	Fetal Muscle Leg	muscle
16	chr17:44952600-44952800	Enhancers	Rectal Mucosa Donor 29	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links