Variant report

Variant	rs17034468
Chromosome Location	chr12:104147709-104147710
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11610157	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12426526	1.00[YRI][hapmap]
rs17034472	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17034527	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[MKK][hapmap]
rs17034633	1.00[CEU][hapmap]
rs17034635	1.00[CEU][hapmap]
rs17041491	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2271636	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2271638	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2292686	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs3817304	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56863355	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57467222	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59502182	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7132446	1.00[CEU][hapmap]
rs884394	1.00[CEU][hapmap]
rs934844	1.00[CEU][hapmap]

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	nsv899480	chr12:104092996-104211440	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active 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	7 gene(s)	inside rSNPs	diseases
2	nsv899481	chr12:104092996-104213731	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv899482	chr12:104092996-104218956	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv34031	chr12:104114277-104298546	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv899483	chr12:104117462-104218956	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv899486	chr12:104118587-104170474	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv899487	chr12:104118587-104218956	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv899489	chr12:104144835-104218956	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104139200-104154200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr12:104140600-104154600	Weak transcription	Aorta	Aorta
3	chr12:104142600-104152200	Weak transcription	HMEC	breast
4	chr12:104142800-104152000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:104142800-104154600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:104142800-104154600	Weak transcription	NHEK	skin
7	chr12:104143000-104149200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:104145400-104149000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:104145400-104151400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:104145600-104154800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:104145800-104152000	Weak transcription	HSMMtube	muscle
12	chr12:104145800-104152400	Weak transcription	Esophagus	oesophagus
13	chr12:104145800-104166800	Weak transcription	Right Atrium	heart
14	chr12:104146000-104154600	Weak transcription	HSMM	muscle
15	chr12:104146200-104169400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:104146400-104148200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:104146800-104150600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr12:104147000-104148000	Strong transcription	Colon Smooth Muscle	Colon
19	chr12:104147000-104152200	Strong transcription	Spleen	Spleen
20	chr12:104147000-104159600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr12:104147000-104165400	Strong transcription	Stomach Smooth Muscle	stomach
22	chr12:104147400-104149200	Weak transcription	Liver	Liver
23	chr12:104147400-104151200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:104147400-104155800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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