Variant report

Variant	rs72864577
Chromosome Location	chr4:79210818-79210819
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10028072	1.00[ASN][1000 genomes]
rs1017646	1.00[ASN][1000 genomes]
rs1017647	1.00[ASN][1000 genomes]
rs1017648	1.00[ASN][1000 genomes]
rs1017650	1.00[ASN][1000 genomes]
rs1017651	1.00[ASN][1000 genomes]
rs11098114	1.00[ASN][1000 genomes]
rs11098131	0.95[ASN][1000 genomes]
rs11941234	0.95[ASN][1000 genomes]
rs13118323	1.00[ASN][1000 genomes]
rs1378237	1.00[ASN][1000 genomes]
rs1378238	1.00[ASN][1000 genomes]
rs1454894	1.00[ASN][1000 genomes]
rs1454895	0.95[ASN][1000 genomes]
rs1454900	1.00[ASN][1000 genomes]
rs1454901	1.00[ASN][1000 genomes]
rs1580105	1.00[ASN][1000 genomes]
rs17003069	0.95[ASN][1000 genomes]
rs17003070	0.95[ASN][1000 genomes]
rs17003071	0.95[ASN][1000 genomes]
rs17003092	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17003108	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1823921	0.95[ASN][1000 genomes]
rs1840390	1.00[ASN][1000 genomes]
rs1840393	1.00[ASN][1000 genomes]
rs1952400	1.00[ASN][1000 genomes]
rs1999053	1.00[ASN][1000 genomes]
rs2008587	1.00[ASN][1000 genomes]
rs2013764	1.00[ASN][1000 genomes]
rs2013770	1.00[ASN][1000 genomes]
rs2045169	1.00[ASN][1000 genomes]
rs2124145	1.00[ASN][1000 genomes]
rs2225198	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2867014	1.00[ASN][1000 genomes]
rs28803795	0.82[ASN][1000 genomes]
rs28806931	0.82[ASN][1000 genomes]
rs345503	1.00[ASN][1000 genomes]
rs345506	1.00[ASN][1000 genomes]
rs345528	0.82[ASN][1000 genomes]
rs4859919	1.00[ASN][1000 genomes]
rs4859921	1.00[ASN][1000 genomes]
rs4859922	1.00[ASN][1000 genomes]
rs60544673	0.95[ASN][1000 genomes]
rs60608669	0.82[ASN][1000 genomes]
rs60862246	0.91[ASN][1000 genomes]
rs61283188	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6533564	1.00[ASN][1000 genomes]
rs6814182	0.84[ASN][1000 genomes]
rs6820900	1.00[ASN][1000 genomes]
rs6822551	1.00[ASN][1000 genomes]
rs6822773	0.95[ASN][1000 genomes]
rs6846166	1.00[ASN][1000 genomes]
rs6847377	1.00[ASN][1000 genomes]
rs6850956	1.00[ASN][1000 genomes]
rs6855457	1.00[ASN][1000 genomes]
rs72862191	0.95[ASN][1000 genomes]
rs72862196	0.95[ASN][1000 genomes]
rs72864511	0.91[ASN][1000 genomes]
rs72864520	1.00[ASN][1000 genomes]
rs72864521	1.00[ASN][1000 genomes]
rs72864564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72864567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72864571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72864587	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72866312	0.82[ASN][1000 genomes]
rs7438056	1.00[ASN][1000 genomes]
rs7667670	1.00[ASN][1000 genomes]
rs967635	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers 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	18 gene(s)	inside rSNPs	diseases
2	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv525530	chr4:79024524-79266563	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1010782	chr4:79057839-79387207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv829978	chr4:79144453-79291868	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv818246	chr4:79184338-79221851	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79169800-79213800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr4:79174800-79214400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:79187600-79214800	Weak transcription	Left Ventricle	heart
4	chr4:79188600-79218400	Weak transcription	Aorta	Aorta
5	chr4:79191400-79213600	Weak transcription	Psoas Muscle	Psoas
6	chr4:79192200-79213800	Weak transcription	Fetal Heart	heart
7	chr4:79198200-79214000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:79198400-79212400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:79198600-79215600	Weak transcription	Esophagus	oesophagus
10	chr4:79198600-79217600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:79198600-79220200	Weak transcription	Pancreas	Pancrea
12	chr4:79198600-79221000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr4:79198600-79241400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:79198800-79213800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr4:79200600-79213600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:79200600-79213800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr4:79203600-79211600	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr4:79203800-79211000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:79203800-79211400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr4:79204000-79217600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr4:79205600-79211600	Strong transcription	HepG2	liver
22	chr4:79206400-79215000	Weak transcription	Right Atrium	heart
23	chr4:79207600-79213800	Weak transcription	Colon Smooth Muscle	Colon
24	chr4:79207800-79213600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:79208400-79220800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr4:79208400-79229200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr4:79208800-79211200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:79208800-79218200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:79208800-79236800	Weak transcription	Fetal Intestine Large	intestine
30	chr4:79209000-79211400	Weak transcription	Fetal Intestine Small	intestine
31	chr4:79209200-79217600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr4:79209800-79213600	Weak transcription	Fetal Lung	lung
33	chr4:79210000-79213600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:79210000-79215200	Weak transcription	Right Ventricle	heart
35	chr4:79210200-79213200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:79210200-79213600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr4:79210200-79214000	Weak transcription	Osteobl	bone
38	chr4:79210400-79211200	Enhancers	Fetal Kidney	kidney
39	chr4:79210400-79212200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr4:79210400-79212200	Weak transcription	HSMMtube	muscle
41	chr4:79210600-79212200	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr4:79210600-79213600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:79210600-79218800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr4:79210800-79211000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr4:79210800-79211000	Enhancers	NHDF-Ad	bronchial

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