Variant report

Variant	rs72633967
Chromosome Location	chr5:74724832-74724833
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74717369..74719270-chr5:74723978..74725689,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10036682	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10038945	0.91[EUR][1000 genomes]
rs10041470	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10055011	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10059022	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10061689	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10067900	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10074747	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10076819	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10077427	0.87[EUR][1000 genomes]
rs10078671	0.91[EUR][1000 genomes]
rs10474437	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12173076	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13360099	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13361353	0.87[EUR][1000 genomes]
rs1469051	0.83[EUR][1000 genomes]
rs1553234	0.87[EUR][1000 genomes]
rs1820049	0.90[EUR][1000 genomes]
rs1909719	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2287710	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs28408106	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28612248	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28668361	0.91[EUR][1000 genomes]
rs28874007	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3804231	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4703671	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4703675	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4704213	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4704229	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56859362	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5744544	0.86[EUR][1000 genomes]
rs5744545	0.84[EUR][1000 genomes]
rs5744636	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5744667	0.89[EUR][1000 genomes]
rs5744704	0.91[EUR][1000 genomes]
rs5744709	0.90[EUR][1000 genomes]
rs5744712	0.90[EUR][1000 genomes]
rs57907925	0.87[EUR][1000 genomes]
rs58519566	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58841453	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61303403	0.80[ASN][1000 genomes]
rs6891560	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72633963	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72633964	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72633965	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72633966	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72633968	0.88[EUR][1000 genomes]
rs72633969	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72633970	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72633971	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72633972	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72633973	0.87[EUR][1000 genomes]
rs72633974	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72633975	0.91[EUR][1000 genomes]
rs72633976	0.89[EUR][1000 genomes]
rs7356633	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7726478	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs904743	0.87[EUR][1000 genomes]
rs9293652	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9293654	0.82[EUR][1000 genomes]
rs9293655	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs979182	0.83[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	nsv882193	chr5:74656175-74917862	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking 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	15 gene(s)	inside rSNPs	diseases
2	nsv882194	chr5:74656175-74946455	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats 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	15 gene(s)	inside rSNPs	diseases
3	nsv882195	chr5:74678937-74896798	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv882196	chr5:74678937-74917862	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv882197	chr5:74692776-74946455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74656400-74725600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:74656800-74731400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:74670800-74731400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:74674400-74761400	Weak transcription	Esophagus	oesophagus
5	chr5:74677600-74734200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:74677800-74725000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr5:74677800-74731400	Weak transcription	Aorta	Aorta
8	chr5:74678000-74730800	Weak transcription	Psoas Muscle	Psoas
9	chr5:74684000-74731200	Weak transcription	HSMMtube	muscle
10	chr5:74699600-74731200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr5:74706000-74731400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:74706200-74756400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr5:74708400-74725400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:74708400-74746000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr5:74708600-74727800	Weak transcription	NHLF	lung
16	chr5:74709400-74726600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:74709600-74726600	Weak transcription	Pancreas	Pancrea
18	chr5:74709600-74732000	Weak transcription	Spleen	Spleen
19	chr5:74709600-74760200	Weak transcription	Gastric	stomach
20	chr5:74713200-74753400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:74714400-74731600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr5:74718600-74726600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr5:74718800-74742200	Weak transcription	Colon Smooth Muscle	Colon
24	chr5:74719000-74726600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr5:74719000-74731400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr5:74721000-74731400	Weak transcription	Fetal Intestine Small	intestine
27	chr5:74721000-74731600	Weak transcription	Fetal Stomach	stomach
28	chr5:74721200-74725000	Weak transcription	Brain Germinal Matrix	brain
29	chr5:74721200-74731400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr5:74721400-74725200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr5:74721400-74726800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr5:74721400-74729400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:74721400-74729800	Weak transcription	NHDF-Ad	bronchial
34	chr5:74721400-74730000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr5:74721400-74731200	Weak transcription	Fetal Muscle Trunk	muscle
36	chr5:74721400-74731200	Weak transcription	Ovary	ovary
37	chr5:74721400-74731400	Weak transcription	Left Ventricle	heart
38	chr5:74721400-74731400	Weak transcription	Lung	lung
39	chr5:74721400-74733400	Weak transcription	Fetal Intestine Large	intestine
40	chr5:74721400-74733400	Weak transcription	Fetal Muscle Leg	muscle
41	chr5:74721400-74733400	Weak transcription	Small Intestine	intestine
42	chr5:74721400-74733600	Weak transcription	Right Ventricle	heart
43	chr5:74721400-74734000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr5:74721400-74742600	Weak transcription	Thymus	Thymus
45	chr5:74721600-74725000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr5:74721600-74725000	Weak transcription	NH-A	brain
47	chr5:74721600-74725800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr5:74721600-74726200	Weak transcription	Brain Hippocampus Middle	brain
49	chr5:74721600-74726800	Weak transcription	Brain Angular Gyrus	brain
50	chr5:74721600-74731200	Weak transcription	Primary neutrophils fromperipheralblood	blood

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