Variant report

Variant	rs73041963
Chromosome Location	chr1:171633388-171633389
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	chr1:171625427..171627489-chr1:171632106..171634164,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10913680	1.00[EUR][1000 genomes]
rs12090298	1.00[EUR][1000 genomes]
rs55703533	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55835861	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58982503	1.00[EUR][1000 genomes]
rs59060176	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59256724	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59351676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60443600	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60495803	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60897561	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61013259	1.00[EUR][1000 genomes]
rs61296253	1.00[EUR][1000 genomes]
rs61328888	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61359014	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6688701	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6698195	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6703372	1.00[EUR][1000 genomes]
rs73041915	1.00[EUR][1000 genomes]
rs73041916	1.00[EUR][1000 genomes]
rs73041964	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73044063	1.00[EUR][1000 genomes]
rs9970108	1.00[EUR][1000 genomes]
rs9970212	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv12447	chr1:171556291-171726822	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv872544	chr1:171616822-171654968	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr1:171624600-171635200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr1:171625200-171633400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:171631800-171633400	Enhancers	Stomach Smooth Muscle	stomach
4	chr1:171631800-171633600	Enhancers	Fetal Muscle Leg	muscle
5	chr1:171632000-171633800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:171632000-171634800	Enhancers	NHDF-Ad	bronchial
7	chr1:171632200-171634200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:171632200-171634400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:171632600-171633600	Enhancers	Right Atrium	heart
10	chr1:171632600-171634400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:171632800-171633800	Enhancers	Left Ventricle	heart
12	chr1:171632800-171634600	Enhancers	Right Ventricle	heart
13	chr1:171633000-171633600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:171633000-171634600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:171633000-171636400	Enhancers	Fetal Heart	heart
16	chr1:171633200-171633400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr1:171633200-171633400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:171633200-171633600	Enhancers	Primary hematopoietic stem cells	blood
19	chr1:171633200-171633600	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr1:171633200-171633600	Enhancers	HSMM	muscle
21	chr1:171633200-171633800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:171633200-171633800	Enhancers	Lung	lung
23	chr1:171633200-171634400	Enhancers	Aorta	Aorta
24	chr1:171633200-171634600	Enhancers	HSMMtube	muscle
25	chr1:171633200-171635600	Enhancers	Psoas Muscle	Psoas
26	chr1:171633200-171636400	Enhancers	Colon Smooth Muscle	Colon

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