Variant report

Variant	rs73764932
Chromosome Location	chr5:74916682-74916683
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:74915137..74918881-chr5:74947780..74950531,3	K562	blood:
2	chr5:74913060..74915078-chr5:74915803..74919443,3	K562	blood:
3	chr5:74915137..74917681-chr5:74948612..74950531,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1018119	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10515215	0.94[ASN][1000 genomes]
rs16872589	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16872635	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16872639	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16872665	0.94[ASN][1000 genomes]
rs16872674	0.96[ASN][1000 genomes]
rs16872720	0.94[ASN][1000 genomes]
rs16872726	0.94[ASN][1000 genomes]
rs17672150	0.96[ASN][1000 genomes]
rs17672204	0.94[ASN][1000 genomes]
rs1909720	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1988728	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2303648	0.89[ASN][1000 genomes]
rs3925086	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55705647	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55805408	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56361267	0.87[AMR][1000 genomes]
rs5744566	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5744567	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5744572	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5744578	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5744587	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5744591	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5744594	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5744612	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5744658	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5744661	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5744681	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5744722	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57566899	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58789089	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59367133	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60854109	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61001560	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61080643	0.95[AMR][1000 genomes]
rs61164763	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61175242	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73763099	0.95[AMR][1000 genomes]
rs73763101	0.95[AMR][1000 genomes]
rs73763102	0.95[AMR][1000 genomes]
rs73764903	0.95[AMR][1000 genomes]
rs73764904	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73764905	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73764909	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73764910	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73764914	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73764915	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73764920	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73764921	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73764922	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73764925	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73764928	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73764930	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73764931	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs767677	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7714554	0.94[ASN][1000 genomes]
rs963004	0.93[EUR][1000 genomes]
rs9791146	0.85[AFR][1000 genomes];0.95[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	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	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
4	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
5	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
6	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
7	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
8	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	esv1850196	chr5:74890618-75138443	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73764932	COL4A3BP	cis	Muscle Skeletal	GTEx

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74907800-74921400	Weak transcription	Aorta	Aorta
2	chr5:74907800-74921400	Weak transcription	Lung	lung
3	chr5:74908200-74918800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr5:74908200-74919600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:74908200-74923600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr5:74908600-74918000	Weak transcription	Small Intestine	intestine
7	chr5:74908600-74920400	Enhancers	Fetal Intestine Small	intestine
8	chr5:74912600-74917200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:74913600-74918400	Weak transcription	HSMM	muscle
10	chr5:74913800-74916800	Weak transcription	Placenta	Placenta
11	chr5:74913800-74918200	Weak transcription	Colonic Mucosa	Colon
12	chr5:74913800-74919800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:74913800-74921400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:74913800-74921600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:74913800-74922400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr5:74913800-74922800	Weak transcription	Ovary	ovary
17	chr5:74913800-74923600	Weak transcription	Esophagus	oesophagus
18	chr5:74913800-74923600	Weak transcription	Fetal Muscle Leg	muscle
19	chr5:74913800-74933600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:74914000-74917800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:74914000-74918200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr5:74914000-74918200	Weak transcription	NH-A	brain
23	chr5:74914000-74919400	Weak transcription	HSMMtube	muscle
24	chr5:74914000-74919800	Weak transcription	Fetal Stomach	stomach
25	chr5:74914000-74923400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr5:74914000-74930800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:74914200-74919400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr5:74915000-74925800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr5:74915400-74916800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:74915400-74916800	Enhancers	K562	blood
31	chr5:74915400-74917000	Enhancers	NHEK	skin
32	chr5:74915400-74917200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:74915400-74917400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:74915400-74917400	Enhancers	Fetal Intestine Large	intestine
35	chr5:74915600-74916800	Enhancers	Primary hematopoietic stem cells	blood
36	chr5:74915600-74918400	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr5:74915600-74921800	Enhancers	Stomach Mucosa	stomach
38	chr5:74915800-74917400	Enhancers	HepG2	liver
39	chr5:74915800-74920000	Enhancers	Duodenum Mucosa	Duodenum
40	chr5:74916000-74917400	Enhancers	Liver	Liver
41	chr5:74916200-74917000	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr5:74916400-74917800	Weak transcription	HMEC	breast
43	chr5:74916600-74916800	Enhancers	A549	lung
44	chr5:74916600-74917000	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr5:74916600-74917000	Enhancers	Gastric	stomach
46	chr5:74916600-74917000	Enhancers	Pancreas	Pancrea
47	chr5:74916600-74917400	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr5:74916600-74931800	Weak transcription	Placenta Amnion	Placenta Amnion

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