Variant report

Variant	rs10252338
Chromosome Location	chr7:97714386-97714387
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:97713767..97717298-chr7:97735891..97738662,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164715	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10215577	0.85[AMR][1000 genomes]
rs10216274	0.85[AMR][1000 genomes]
rs10227681	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10232153	0.85[AMR][1000 genomes]
rs10241172	0.85[AMR][1000 genomes]
rs10243993	0.85[AMR][1000 genomes]
rs10256262	0.85[AMR][1000 genomes]
rs10261777	0.85[AMR][1000 genomes]
rs10270280	0.85[AMR][1000 genomes]
rs10276472	0.87[AMR][1000 genomes]
rs10279735	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10282336	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12333559	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12704966	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13221480	0.82[AMR][1000 genomes]
rs13227746	0.84[AMR][1000 genomes]
rs13241860	0.85[AMR][1000 genomes]
rs13247901	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs13311408	0.90[AMR][1000 genomes]
rs17169317	0.85[AMR][1000 genomes]
rs17169328	0.85[AMR][1000 genomes]
rs28415802	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs28681561	0.85[AMR][1000 genomes]
rs34066772	0.84[AMR][1000 genomes]
rs34320281	0.85[AMR][1000 genomes]
rs34353490	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs36020874	0.84[AMR][1000 genomes]
rs36050143	0.84[AMR][1000 genomes]
rs36081491	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs3735252	0.92[AFR][1000 genomes]
rs6465655	0.85[AMR][1000 genomes]
rs6958785	0.85[AMR][1000 genomes]
rs6980318	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73404186	0.87[AMR][1000 genomes]
rs7788997	0.85[AMR][1000 genomes]
rs951987	0.85[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	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3500384	chr7:97527787-98015382	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	esv3500386	chr7:97527787-98015382	Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1017481	chr7:97597641-98041043	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv539031	chr7:97597641-98041043	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1019531	chr7:97653880-98034129	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv539032	chr7:97653880-98034129	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	esv1816676	chr7:97676259-97868033	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97709400-97715600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:97712800-97714400	Enhancers	Rectal Mucosa Donor 29	rectum
3	chr7:97712800-97716400	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr7:97713000-97715600	Enhancers	Duodenum Mucosa	Duodenum
5	chr7:97713400-97715200	Weak transcription	Esophagus	oesophagus
6	chr7:97713400-97715400	Weak transcription	Colonic Mucosa	Colon
7	chr7:97714000-97714400	Enhancers	NHEK	skin
8	chr7:97714000-97715400	Weak transcription	Fetal Intestine Large	intestine
9	chr7:97714000-97715400	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr7:97714000-97715600	Enhancers	Fetal Intestine Small	intestine
11	chr7:97714000-97716000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:97714000-97716000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:97714000-97716000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:97714200-97715200	Weak transcription	Stomach Mucosa	stomach
15	chr7:97714200-97715400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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