Variant report

Variant	rs73238367
Chromosome Location	chr4:56717601-56717602
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	chr4:56712983..56715874-chr4:56716804..56719417,2	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1072799	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11727702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11729456	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11734942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17086132	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17086150	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17086186	1.00[ASN][1000 genomes]
rs17086254	1.00[ASN][1000 genomes]
rs17728804	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17740755	1.00[ASN][1000 genomes]
rs17742000	1.00[ASN][1000 genomes]
rs17742722	1.00[ASN][1000 genomes]
rs17797113	1.00[ASN][1000 genomes]
rs17797407	1.00[ASN][1000 genomes]
rs17797571	1.00[ASN][1000 genomes]
rs17797595	1.00[ASN][1000 genomes]
rs17798452	1.00[ASN][1000 genomes]
rs17798872	1.00[ASN][1000 genomes]
rs2899046	1.00[ASN][1000 genomes]
rs2899053	1.00[ASN][1000 genomes]
rs34179097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34184679	1.00[ASN][1000 genomes]
rs35143702	1.00[ASN][1000 genomes]
rs41279543	1.00[ASN][1000 genomes]
rs41280345	1.00[ASN][1000 genomes]
rs55806680	1.00[AFR][1000 genomes]
rs56026480	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61753870	1.00[ASN][1000 genomes]
rs6814812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6817717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6833480	1.00[ASN][1000 genomes]
rs6845953	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6848009	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238326	1.00[AFR][1000 genomes]
rs73238333	1.00[AFR][1000 genomes]
rs73238359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238372	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238381	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238382	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238384	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238387	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238390	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238395	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238397	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238398	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238399	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238400	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs748013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7657912	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7669903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7675287	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7675490	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7690739	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7698100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9994601	1.00[ASN][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	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv10496	chr4:56336946-56841137	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv1005845	chr4:56522075-56980357	Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	esv3406311	chr4:56580578-56840877	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv427681	chr4:56651921-56908209	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56716000-56717800	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr4:56716000-56719200	Weak transcription	Right Atrium	heart
3	chr4:56716400-56718000	Weak transcription	Placenta	Placenta
4	chr4:56716400-56719200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr4:56716400-56719200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr4:56716400-56719800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr4:56716600-56718600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:56716800-56719200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr4:56716800-56719800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:56716800-56719800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:56717200-56718000	Enhancers	NHEK	skin
12	chr4:56717400-56718000	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr4:56717400-56718400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:56717400-56719200	Enhancers	Duodenum Mucosa	Duodenum
15	chr4:56717400-56719400	Enhancers	HMEC	breast
16	chr4:56717600-56718000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr4:56717600-56718200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr4:56717600-56718400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:56717600-56718400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr4:56717600-56718400	Enhancers	Fetal Intestine Large	intestine
21	chr4:56717600-56718600	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr4:56717600-56718600	Enhancers	Fetal Intestine Small	intestine
23	chr4:56717600-56718600	Flanking Active TSS	HepG2	liver
24	chr4:56717600-56719000	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr4:56717600-56719200	Enhancers	Primary T cells from cord blood	blood
26	chr4:56717600-56719200	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr4:56717600-56719200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr4:56717600-56719400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:56717600-56719400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:56717600-56719800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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