Variant report

Variant	rs74051648
Chromosome Location	chr1:9438167-9438168
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs11121428	1.00[EUR][1000 genomes]
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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72862734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];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	0.87[AFR][1000 genomes];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	esv3345013	chr1:9237327-9475707	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv1014844	chr1:9326748-9441033	Bivalent/Poised TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv870719	chr1:9349938-9441040	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv871098	chr1:9371099-9469114	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	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
8	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

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9417000-9444800	Weak transcription	Hela-S3	cervix
2	chr1:9422000-9442200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:9429800-9438600	Enhancers	Colon Smooth Muscle	Colon
4	chr1:9432800-9442200	Weak transcription	Spleen	Spleen
5	chr1:9433400-9438400	Enhancers	Fetal Muscle Leg	muscle
6	chr1:9433600-9438600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:9434600-9438600	Enhancers	Ovary	ovary
8	chr1:9435000-9438800	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr1:9435200-9438200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:9435200-9438400	Enhancers	Left Ventricle	heart
11	chr1:9435200-9438600	Enhancers	Adipose Nuclei	Adipose
12	chr1:9435200-9438600	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr1:9435200-9438800	Enhancers	Psoas Muscle	Psoas
14	chr1:9435800-9438400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr1:9436000-9438400	Enhancers	Lung	lung
16	chr1:9436600-9438400	Enhancers	Colonic Mucosa	Colon
17	chr1:9436600-9442200	Weak transcription	Esophagus	oesophagus
18	chr1:9436800-9442200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr1:9436800-9444400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr1:9437400-9440800	Weak transcription	Fetal Intestine Small	intestine
21	chr1:9437400-9442400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:9437400-9443200	Weak transcription	Brain Anterior Caudate	brain
23	chr1:9437400-9444400	Weak transcription	Small Intestine	intestine
24	chr1:9437600-9438400	Enhancers	Aorta	Aorta
25	chr1:9437600-9438400	Bivalent Enhancer	Placenta	Placenta
26	chr1:9437600-9440600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:9437600-9444400	Weak transcription	Right Atrium	heart
28	chr1:9437800-9438200	Weak transcription	Right Ventricle	heart
29	chr1:9437800-9438800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr1:9437800-9438800	Enhancers	Stomach Smooth Muscle	stomach
31	chr1:9437800-9442200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:9437800-9442800	Weak transcription	Brain Hippocampus Middle	brain
33	chr1:9437800-9442800	Weak transcription	HSMMtube	muscle
34	chr1:9437800-9444200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:9438000-9438400	Weak transcription	Rectal Smooth Muscle	rectum

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