Variant report

Variant	rs11730296
Chromosome Location	chr4:79197549-79197550
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10008653	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10010118	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10015504	0.96[ASN][1000 genomes]
rs10023308	0.94[ASN][1000 genomes]
rs10023311	0.94[ASN][1000 genomes]
rs10023496	0.94[ASN][1000 genomes]
rs10027981	0.94[ASN][1000 genomes]
rs10028695	0.95[ASN][1000 genomes]
rs1017649	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10223012	0.91[EUR][1000 genomes]
rs10461146	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11736213	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12500443	0.84[EUR][1000 genomes]
rs12501798	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12502139	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12502685	0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12502886	0.96[ASN][1000 genomes]
rs12504081	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12506036	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12506989	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12510741	0.93[ASN][1000 genomes]
rs12511033	0.95[ASN][1000 genomes]
rs12511360	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12511808	0.88[EUR][1000 genomes]
rs13107378	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13108102	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13117388	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13136648	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13138795	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1378239	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1454892	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1454898	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1454899	0.92[EUR][1000 genomes]
rs1484344	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17455826	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1840391	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1840392	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1952399	0.94[ASN][1000 genomes]
rs1958276	0.94[ASN][1000 genomes]
rs2008786	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2124143	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2124144	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2168203	0.93[ASN][1000 genomes]
rs2198635	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28493765	0.94[ASN][1000 genomes]
rs2867012	0.94[ASN][1000 genomes]
rs28679752	0.94[ASN][1000 genomes]
rs28737438	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34321445	0.85[EUR][1000 genomes]
rs34398622	0.96[ASN][1000 genomes]
rs34535077	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs345502	0.91[ASN][1000 genomes]
rs345507	0.95[ASN][1000 genomes]
rs34595864	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35290872	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35291597	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35419939	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35683023	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35828300	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs385693	0.94[ASN][1000 genomes]
rs4241623	0.94[ASN][1000 genomes]
rs4859524	0.96[ASN][1000 genomes]
rs4859918	0.96[ASN][1000 genomes]
rs4859920	0.96[ASN][1000 genomes]
rs4859923	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4859924	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58101131	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62309861	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62310017	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62310021	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62310023	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62310045	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6533565	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6533571	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6815945	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6833721	0.86[ASN][1000 genomes]
rs6854043	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6854207	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6856362	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7656032	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7681247	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7686297	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7694740	0.96[ASN][1000 genomes]
rs7696792	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7697230	0.88[ASN][1000 genomes]
rs7698625	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9307359	0.91[EUR][1000 genomes]
rs943821	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs943822	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9762380	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9994502	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	esv3366862	chr4:79193628-79198326	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:31 , 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	chr4:79187800-79197600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:79187800-79210400	Weak transcription	Fetal Kidney	kidney
6	chr4:79188000-79209400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:79188400-79197800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:79188600-79198000	Weak transcription	Pancreas	Pancrea
9	chr4:79188600-79200200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:79188600-79218400	Weak transcription	Aorta	Aorta
11	chr4:79188800-79201000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr4:79189000-79198000	Weak transcription	Fetal Intestine Large	intestine
13	chr4:79189000-79198200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr4:79189400-79207400	Weak transcription	Fetal Lung	lung
15	chr4:79189600-79199400	Weak transcription	HepG2	liver
16	chr4:79191400-79213600	Weak transcription	Psoas Muscle	Psoas
17	chr4:79192200-79213800	Weak transcription	Fetal Heart	heart
18	chr4:79196200-79198800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
19	chr4:79196600-79198600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
20	chr4:79196600-79198600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
21	chr4:79197200-79198600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
22	chr4:79197400-79198200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:79197400-79198400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr4:79197400-79198600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:79197400-79198600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
26	chr4:79197400-79198600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
27	chr4:79197400-79198600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
28	chr4:79197400-79198600	ZNF genes & repeats	Fetal Intestine Small	intestine
29	chr4:79197400-79198800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
30	chr4:79197400-79198800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:79197400-79201600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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