Variant report

Variant	rs12703102
Chromosome Location	chr7:150525583-150525584
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	chr7:150517812..150520410-chr7:150524494..150526205,2	K562	blood:
2	chr7:150525562..150527080-chr7:150527872..150530321,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10085672	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10236614	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10236835	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10240041	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10278673	1.00[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10280166	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10282083	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10282142	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10282362	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1117609	0.83[EUR][1000 genomes]
rs1117610	0.82[EUR][1000 genomes]
rs12537755	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12540770	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12540772	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12703103	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17173612	0.90[JPT][hapmap]
rs1988842	0.83[EUR][1000 genomes]
rs35613114	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4725368	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4725369	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4725370	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4725371	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4725952	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4725953	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4725954	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4725957	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4725959	0.84[EUR][1000 genomes]
rs4725967	0.83[EUR][1000 genomes]
rs57756713	0.85[ASN][1000 genomes]
rs59575516	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62490442	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62492369	0.85[EUR][1000 genomes]
rs6464109	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6464110	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6464112	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6464113	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs66561528	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6946098	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6946548	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6946967	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6951070	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6951761	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6951919	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6963419	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6971206	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6978544	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6980179	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9648658	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9648659	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9648660	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9648706	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv967475	chr7:150323577-150610034	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150503400-150528000	Weak transcription	Ovary	ovary
2	chr7:150522400-150542800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:150523400-150528000	Weak transcription	Right Atrium	heart
4	chr7:150523800-150527600	Weak transcription	Stomach Mucosa	stomach
5	chr7:150523800-150528000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:150524000-150527600	Weak transcription	Fetal Intestine Large	intestine
7	chr7:150524600-150526200	Weak transcription	Liver	Liver
8	chr7:150524600-150526200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:150524600-150527600	Weak transcription	Fetal Intestine Small	intestine
10	chr7:150524800-150527400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr7:150524800-150527600	Weak transcription	Duodenum Mucosa	Duodenum

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