Variant report

Variant	rs61547143
Chromosome Location	chr1:9443566-9443567
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:9420327..9422775-chr1:9443047..9444647,2	K562	blood:
2	chr1:9443056..9445131-chr1:9447394..9449861,2	K562	blood:
3	chr1:9440767..9442715-chr1:9442900..9445277,3	K562	blood:

Extended variants
information (count: 26 )
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]
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:7 , 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	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
5	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
6	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
7	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

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9417000-9444800	Weak transcription	Hela-S3	cervix
2	chr1:9436800-9444400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr1:9437400-9444400	Weak transcription	Small Intestine	intestine
4	chr1:9437600-9444400	Weak transcription	Right Atrium	heart
5	chr1:9437800-9444200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:9438400-9444200	Weak transcription	Left Ventricle	heart
7	chr1:9438400-9444400	Weak transcription	Lung	lung
8	chr1:9438400-9447200	Weak transcription	Aorta	Aorta
9	chr1:9438600-9444000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:9438600-9444200	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:9438600-9447600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:9438800-9443600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:9438800-9444200	Weak transcription	Psoas Muscle	Psoas
14	chr1:9441400-9444400	Weak transcription	Fetal Intestine Small	intestine
15	chr1:9442000-9449400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:9442200-9444400	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr1:9442200-9445800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr1:9442200-9446200	Enhancers	Ovary	ovary
19	chr1:9442200-9450200	Enhancers	Brain Cingulate Gyrus	brain
20	chr1:9442600-9443800	Bivalent Enhancer	Placenta	Placenta
21	chr1:9442600-9444600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:9442800-9443600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:9442800-9444400	Enhancers	HSMMtube	muscle
24	chr1:9442800-9448800	Enhancers	Brain Hippocampus Middle	brain
25	chr1:9443000-9443600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:9443000-9443600	Enhancers	Spleen	Spleen
27	chr1:9443000-9444200	Bivalent Enhancer	Fetal Muscle Leg	muscle
28	chr1:9443000-9444400	Weak transcription	Esophagus	oesophagus
29	chr1:9443000-9448800	Enhancers	Brain Substantia Nigra	brain
30	chr1:9443200-9444800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:9443200-9445800	Weak transcription	Gastric	stomach
32	chr1:9443200-9446000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr1:9443200-9446200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr1:9443200-9449200	Enhancers	Brain Anterior Caudate	brain
35	chr1:9443400-9443600	Enhancers	Right Ventricle	heart
36	chr1:9443400-9443800	Weak transcription	Adipose Nuclei	Adipose
37	chr1:9443400-9444200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:9443400-9444200	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr1:9443400-9444600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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