Variant report

Variant	rs72633972
Chromosome Location	chr5:74823503-74823504
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	chr5:74815294..74818982-chr5:74820247..74823584,4	K562	blood:
2	chr5:74805305..74807843-chr5:74822655..74824255,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113163	Chromatin interaction
ENSG00000122008	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10036682	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10038945	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10041470	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10055011	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10059022	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10061689	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10067900	0.91[EUR][1000 genomes]
rs10074747	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10076819	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10077427	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10078671	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10474437	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12173076	0.83[EUR][1000 genomes]
rs13360099	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13361353	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1469051	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1553234	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1820049	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1909719	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2287710	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs253410	0.83[ASN][1000 genomes]
rs28408106	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28612248	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28668361	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28874007	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34339	0.83[ASN][1000 genomes]
rs34342	0.83[ASN][1000 genomes]
rs34343	0.83[ASN][1000 genomes]
rs3804231	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4703671	0.89[EUR][1000 genomes]
rs4703675	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4704213	0.91[EUR][1000 genomes]
rs4704229	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56859362	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5744544	0.88[EUR][1000 genomes]
rs5744545	0.87[EUR][1000 genomes]
rs5744636	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5744667	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5744704	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5744709	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5744712	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57907925	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58519566	0.91[EUR][1000 genomes]
rs58841453	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6891560	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72633963	0.81[EUR][1000 genomes]
rs72633964	0.91[EUR][1000 genomes]
rs72633965	0.91[EUR][1000 genomes]
rs72633966	0.85[EUR][1000 genomes]
rs72633967	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72633968	0.86[EUR][1000 genomes]
rs72633969	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72633970	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72633971	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72633973	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72633974	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72633975	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72633976	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72633977	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7356633	0.91[EUR][1000 genomes]
rs7726478	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs904743	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9293652	0.91[EUR][1000 genomes]
rs9293654	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9293655	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs979182	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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
6	nsv882198	chr5:74736065-74896798	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv882199	chr5:74757758-74946455	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv882200	chr5:74781439-74830808	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	nsv882201	chr5:74787310-74890618	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
11	nsv882202	chr5:74808417-74946455	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	esv3385195	chr5:74810245-74843686	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv882203	chr5:74811497-74832919	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv882204	chr5:74811497-74856142	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv882205	chr5:74811497-74862921	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	nsv598674	chr5:74816849-74831498	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv598675	chr5:74816849-74831615	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74808800-74849600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr5:74809400-74830600	Weak transcription	Fetal Kidney	kidney
3	chr5:74809600-74830200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:74809600-74839400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr5:74810400-74862400	Weak transcription	Hela-S3	cervix
6	chr5:74815000-74832200	Weak transcription	Right Ventricle	heart
7	chr5:74817600-74831800	Weak transcription	Dnd41	blood
8	chr5:74818000-74825000	Weak transcription	Psoas Muscle	Psoas
9	chr5:74818000-74827000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:74818000-74827400	Weak transcription	Ovary	ovary
11	chr5:74818000-74827600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:74818000-74828000	Weak transcription	Fetal Lung	lung
13	chr5:74818000-74829000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:74818000-74829200	Weak transcription	Fetal Stomach	stomach
15	chr5:74818000-74830400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr5:74818000-74830400	Weak transcription	Liver	Liver
17	chr5:74818000-74830600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:74818000-74832000	Weak transcription	Fetal Thymus	thymus
19	chr5:74818000-74832000	Weak transcription	Lung	lung
20	chr5:74818000-74832000	Weak transcription	Pancreas	Pancrea
21	chr5:74818000-74832200	Weak transcription	Esophagus	oesophagus
22	chr5:74818000-74832200	Weak transcription	HSMM	muscle
23	chr5:74818200-74823800	Weak transcription	Fetal Intestine Small	intestine
24	chr5:74818200-74826200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:74818200-74832200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:74818200-74897400	Weak transcription	Thymus	Thymus
27	chr5:74818600-74827000	Weak transcription	Fetal Intestine Large	intestine
28	chr5:74818600-74828400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:74819000-74828000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:74819000-74829200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:74819000-74832200	Weak transcription	Osteobl	bone
32	chr5:74819400-74823600	Enhancers	Primary B cells from peripheral blood	blood
33	chr5:74819400-74846800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr5:74819600-74827200	Weak transcription	A549	lung
35	chr5:74819600-74829800	Weak transcription	HepG2	liver
36	chr5:74820000-74826200	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr5:74820200-74830600	Weak transcription	NHDF-Ad	bronchial
38	chr5:74820400-74824200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:74820400-74832000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr5:74820600-74827800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:74820600-74828000	Weak transcription	HMEC	breast
42	chr5:74820600-74830600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr5:74820800-74825200	Weak transcription	Right Atrium	heart
44	chr5:74820800-74829200	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr5:74820800-74829200	Weak transcription	NHEK	skin
46	chr5:74820800-74830800	Weak transcription	Aorta	Aorta
47	chr5:74820800-74832200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr5:74820800-74832200	Weak transcription	Colon Smooth Muscle	Colon
49	chr5:74821000-74830400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:74821000-74830800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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