Variant report

Variant	rs1701094
Chromosome Location	chr12:44468877-44468878
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	chr12:44464525..44467032-chr12:44467847..44469939,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10047523	0.92[CHB][hapmap]
rs1032886	0.92[CHB][hapmap];0.86[CHD][hapmap]
rs10880623	0.92[CHB][hapmap]
rs1098878	0.89[JPT][hapmap]
rs11182382	0.89[JPT][hapmap]
rs11182423	0.92[CHB][hapmap]
rs11182430	0.92[CHB][hapmap]
rs11182432	0.92[CHB][hapmap]
rs1155808	0.92[CHB][hapmap]
rs11615473	0.92[CHB][hapmap]
rs1168078	0.92[CHB][hapmap]
rs1168080	0.84[ASN][1000 genomes]
rs11832219	0.92[CHB][hapmap]
rs11832859	0.92[CHB][hapmap]
rs11835507	0.92[CHB][hapmap]
rs12297689	0.92[CHB][hapmap]
rs12297933	0.92[CHB][hapmap]
rs12299030	0.92[CHB][hapmap]
rs12300793	0.92[CHB][hapmap]
rs12307454	0.85[CHB][hapmap]
rs12308569	0.92[CHB][hapmap]
rs1388775	1.00[CEU][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs1505583	0.89[JPT][hapmap]
rs1643429	0.92[CHB][hapmap]
rs1643431	0.92[CHB][hapmap]
rs1688726	0.89[JPT][hapmap]
rs17094092	0.92[CHB][hapmap]
rs17094183	0.92[CHB][hapmap]
rs17094227	0.92[CHB][hapmap];0.86[CHD][hapmap]
rs17094231	0.85[CHB][hapmap]
rs17094235	0.92[CHB][hapmap]
rs17121310	0.92[CHB][hapmap]
rs2062952	0.92[CHB][hapmap]
rs2112147	0.92[CHB][hapmap]
rs2638853	0.92[CHB][hapmap];0.86[CHD][hapmap]
rs2638855	0.92[CHB][hapmap]
rs2657575	0.93[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7137469	0.92[CHB][hapmap]
rs7295281	0.85[CHB][hapmap]
rs7306647	0.92[CHB][hapmap]
rs7315208	0.92[CHB][hapmap]
rs7316737	0.92[CHB][hapmap]
rs7961974	0.92[CHB][hapmap];0.86[CHD][hapmap]
rs7969885	0.92[CHB][hapmap];0.86[CHD][hapmap]
rs7976652	0.92[CHB][hapmap];0.86[CHD][hapmap]
rs7977482	0.92[CHB][hapmap];0.85[CHD][hapmap]
rs842199	0.89[JPT][hapmap]
rs863580	0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832390	chr12:44318071-44512114	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1041188	chr12:44331098-44528712	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832391	chr12:44394137-44552555	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr12:44454000-44470400	Weak transcription	Fetal Brain Female	brain
2	chr12:44457000-44470600	Weak transcription	Psoas Muscle	Psoas
3	chr12:44458400-44482200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:44460000-44470600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:44463400-44470600	Weak transcription	Aorta	Aorta
6	chr12:44464200-44473600	Weak transcription	Fetal Intestine Small	intestine
7	chr12:44465200-44469600	Weak transcription	Esophagus	oesophagus
8	chr12:44465200-44470600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:44467000-44470600	Weak transcription	Ovary	ovary
10	chr12:44467600-44482600	Weak transcription	Left Ventricle	heart
11	chr12:44468800-44469400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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