Variant report

Variant	rs72862741
Chromosome Location	chr1:9440673-9440674
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	chr1:9439226..9441134-chr1:9446219..9450095,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs74051650	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9662928	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
9	esv2616653	chr1:9439330-9441001	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:31 , 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	chr1:9432800-9442200	Weak transcription	Spleen	Spleen
4	chr1:9436600-9442200	Weak transcription	Esophagus	oesophagus
5	chr1:9436800-9442200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr1:9436800-9444400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr1:9437400-9440800	Weak transcription	Fetal Intestine Small	intestine
8	chr1:9437400-9442400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:9437400-9443200	Weak transcription	Brain Anterior Caudate	brain
10	chr1:9437400-9444400	Weak transcription	Small Intestine	intestine
11	chr1:9437600-9444400	Weak transcription	Right Atrium	heart
12	chr1:9437800-9442200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:9437800-9442800	Weak transcription	Brain Hippocampus Middle	brain
14	chr1:9437800-9442800	Weak transcription	HSMMtube	muscle
15	chr1:9437800-9444200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:9438400-9443400	Weak transcription	Right Ventricle	heart
17	chr1:9438400-9444200	Weak transcription	Left Ventricle	heart
18	chr1:9438400-9444400	Weak transcription	Lung	lung
19	chr1:9438400-9447200	Weak transcription	Aorta	Aorta
20	chr1:9438600-9442200	Weak transcription	Ovary	ovary
21	chr1:9438600-9444000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:9438600-9444200	Weak transcription	Colon Smooth Muscle	Colon
23	chr1:9438600-9447600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr1:9438800-9442200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr1:9438800-9443600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr1:9438800-9444200	Weak transcription	Psoas Muscle	Psoas
27	chr1:9439400-9443400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr1:9439600-9441000	Weak transcription	Adipose Nuclei	Adipose
29	chr1:9440600-9440800	Bivalent Enhancer	Fetal Muscle Leg	muscle
30	chr1:9440600-9441200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:9440600-9441600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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