Variant report

Variant	rs11121428
Chromosome Location	chr1:9527667-9527668
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	chr1:9524371..9527946-chr1:9530247..9532341,4	K562	blood:
2	chr1:9526916..9528492-chr1:9549866..9552448,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11811820	1.00[EUR][1000 genomes]
rs55913306	1.00[EUR][1000 genomes]
rs56133240	1.00[EUR][1000 genomes]
rs57585081	1.00[EUR][1000 genomes]
rs60678622	1.00[EUR][1000 genomes]
rs61547143	1.00[EUR][1000 genomes]
rs6701659	1.00[EUR][1000 genomes]
rs72862732	1.00[EUR][1000 genomes]
rs72862734	1.00[EUR][1000 genomes]
rs7354926	1.00[EUR][1000 genomes]
rs74051531	1.00[EUR][1000 genomes]
rs74051533	1.00[EUR][1000 genomes]
rs74051540	1.00[EUR][1000 genomes]
rs74051544	1.00[EUR][1000 genomes]
rs74051646	1.00[EUR][1000 genomes]
rs74051648	1.00[EUR][1000 genomes]
rs74051651	1.00[EUR][1000 genomes]
rs74051652	1.00[EUR][1000 genomes]
rs9662928	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	nsv931984	chr1:8879337-9694749	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	570 gene(s)	inside rSNPs	diseases
2	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
3	nsv1003190	chr1:9382452-9554553	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv534850	chr1:9382452-9554553	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1013224	chr1:9441040-9699768	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv464283	chr1:9495571-9677853	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv545363	chr1:9495571-9677853	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv517755	chr1:9514846-9539693	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9513800-9533000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:9525600-9527800	Enhancers	Adipose Nuclei	Adipose
3	chr1:9525600-9528800	Enhancers	Pancreas	Pancrea
4	chr1:9526000-9555200	Weak transcription	Right Atrium	heart
5	chr1:9526600-9528600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr1:9526800-9527800	Flanking Active TSS	Colon Smooth Muscle	Colon
7	chr1:9526800-9527800	Enhancers	Fetal Intestine Small	intestine
8	chr1:9526800-9528000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:9526800-9528000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:9526800-9528000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:9526800-9528000	Enhancers	Colonic Mucosa	Colon
12	chr1:9526800-9528000	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr1:9526800-9528000	Enhancers	Fetal Intestine Large	intestine
14	chr1:9526800-9528000	Enhancers	Fetal Stomach	stomach
15	chr1:9526800-9528000	Flanking Active TSS	Stomach Smooth Muscle	stomach
16	chr1:9526800-9528200	Enhancers	Fetal Lung	lung
17	chr1:9527000-9527800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:9527000-9528000	Flanking Active TSS	NHDF-Ad	bronchial
19	chr1:9527400-9527800	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr1:9527400-9528200	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr1:9527600-9527800	Bivalent Enhancer	HepG2	liver
22	chr1:9527600-9528000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:9527600-9528000	Enhancers	Ovary	ovary
24	chr1:9527600-9528000	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr1:9527600-9528000	Enhancers	Rectal Smooth Muscle	rectum
26	chr1:9527600-9528600	Enhancers	Fetal Muscle Leg	muscle

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