Variant report

Variant	rs17166200
Chromosome Location	chr7:12625479-12625480
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	chr7:12623803..12625558-chr7:12629908..12631864,2	K562	blood:
2	chr7:12623803..12627040-chr7:12629908..12631864,3	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1024581	1.00[EUR][1000 genomes]
rs11983218	1.00[EUR][1000 genomes]
rs11984169	1.00[EUR][1000 genomes]
rs17166232	1.00[EUR][1000 genomes]
rs6975496	1.00[EUR][1000 genomes]
rs73294923	1.00[EUR][1000 genomes]
rs73294941	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7782523	1.00[EUR][1000 genomes]
rs7796394	1.00[EUR][1000 genomes]
rs7808884	1.00[EUR][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	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv1021371	chr7:12530491-12710429	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1017577	chr7:12530491-12722947	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1030764	chr7:12532287-12710429	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1018053	chr7:12580554-12632996	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1020242	chr7:12605593-12641202	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12611800-12637600	Weak transcription	Colonic Mucosa	Colon
2	chr7:12619800-12630400	Weak transcription	Esophagus	oesophagus
3	chr7:12620600-12626600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr7:12620800-12625800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:12621800-12625600	Enhancers	Hela-S3	cervix
6	chr7:12622000-12625600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:12623400-12628000	Weak transcription	Placenta	Placenta
8	chr7:12624200-12625600	Enhancers	Adipose Nuclei	Adipose
9	chr7:12624400-12626000	Enhancers	Placenta Amnion	Placenta Amnion
10	chr7:12624800-12625600	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr7:12624800-12625600	Enhancers	HSMM	muscle
12	chr7:12625000-12625600	Enhancers	Osteobl	bone
13	chr7:12625000-12626600	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr7:12625000-12627000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:12625000-12627800	Enhancers	K562	blood
16	chr7:12625000-12645800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr7:12625000-12652000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr7:12625200-12625800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:12625200-12627400	Weak transcription	Stomach Mucosa	stomach
20	chr7:12625400-12667600	Weak transcription	Rectal Mucosa Donor 31	rectum

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