Variant report

Variant	rs7681238
Chromosome Location	chr4:79014821-79014822
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10000651	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10002604	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10003965	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10004159	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10005735	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10005862	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10007371	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10018454	0.94[ASN][1000 genomes]
rs10023697	0.85[ASN][1000 genomes]
rs10025194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10025611	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10025769	0.90[ASN][1000 genomes]
rs10025977	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10026268	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10028988	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10030639	0.94[ASN][1000 genomes]
rs10033428	0.94[ASN][1000 genomes]
rs10213063	0.94[ASN][1000 genomes]
rs10213609	0.94[ASN][1000 genomes]
rs10518194	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13127746	0.86[EUR][1000 genomes]
rs13133346	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13136410	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13144972	0.94[ASN][1000 genomes]
rs13150598	0.85[ASN][1000 genomes]
rs1317018	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16997130	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17418552	0.93[ASN][1000 genomes]
rs17419053	0.93[ASN][1000 genomes]
rs17420118	0.84[ASN][1000 genomes]
rs17420328	0.84[ASN][1000 genomes]
rs1878437	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2078481	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28409486	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28479828	0.94[ASN][1000 genomes]
rs28542863	0.87[ASN][1000 genomes]
rs28597965	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28635454	0.94[ASN][1000 genomes]
rs2867004	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2867006	0.82[ASN][1000 genomes]
rs28671092	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28677913	0.94[ASN][1000 genomes]
rs28707182	0.94[ASN][1000 genomes]
rs28750077	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28822779	0.94[ASN][1000 genomes]
rs2903452	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34552897	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35060393	0.81[ASN][1000 genomes]
rs35374567	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35967777	0.84[ASN][1000 genomes]
rs4610363	0.94[ASN][1000 genomes]
rs4634250	0.94[ASN][1000 genomes]
rs55690666	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56368720	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58118093	0.93[ASN][1000 genomes]
rs58969863	0.94[ASN][1000 genomes]
rs58970756	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66631138	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6820400	0.94[ASN][1000 genomes]
rs6825089	0.81[ASN][1000 genomes]
rs6838483	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6838661	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6840121	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6840357	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6848061	0.84[ASN][1000 genomes]
rs6857278	0.94[ASN][1000 genomes]
rs6857527	0.94[ASN][1000 genomes]
rs6858810	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71609399	0.85[ASN][1000 genomes]
rs72654668	0.87[ASN][1000 genomes]
rs7666444	0.94[ASN][1000 genomes]
rs7670386	0.81[AMR][1000 genomes]
rs7670625	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7673873	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7677432	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7684543	0.94[ASN][1000 genomes]
rs7695979	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7698326	0.85[ASN][1000 genomes]
rs7699120	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9307335	0.94[ASN][1000 genomes]
rs9307336	0.94[ASN][1000 genomes]
rs9307337	0.94[ASN][1000 genomes]
rs9307338	0.94[ASN][1000 genomes]
rs9307339	0.94[ASN][1000 genomes]
rs9307340	0.94[ASN][1000 genomes]
rs9307352	0.85[ASN][1000 genomes]
rs9991356	0.94[ASN][1000 genomes]
rs9994298	0.94[ASN][1000 genomes]
rs9994422	0.94[ASN][1000 genomes]
rs9999763	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv520625	chr4:79002655-79071788	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78981200-79016600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:78995800-79015800	Weak transcription	HepG2	liver
3	chr4:79003000-79016800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:79007000-79015800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:79011400-79016600	Weak transcription	Fetal Intestine Small	intestine
6	chr4:79013200-79015000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:79013600-79015000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr4:79013600-79015000	Enhancers	Fetal Heart	heart
9	chr4:79014000-79015000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:79014000-79015600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr4:79014000-79016400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr4:79014000-79017400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr4:79014200-79016600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr4:79014200-79026000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr4:79014600-79015200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr4:79014600-79015200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr4:79014600-79015200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr4:79014600-79015400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr4:79014800-79015600	Enhancers	HUES48 Cell Line	embryonic stem cell

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