Variant report

Variant	rs10030735
Chromosome Location	chr4:78127169-78127170
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10005142	0.83[EUR][1000 genomes]
rs10009384	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.83[EUR][1000 genomes]
rs10010290	0.82[JPT][hapmap]
rs10018359	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.83[EUR][1000 genomes]
rs10020351	0.83[EUR][1000 genomes]
rs10025838	0.91[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs10026129	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.83[EUR][1000 genomes]
rs10026795	0.81[EUR][1000 genomes]
rs10030727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10030867	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[EUR][1000 genomes]
rs10030957	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.83[EUR][1000 genomes]
rs1006042	0.87[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs10856957	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs11097729	0.83[EUR][1000 genomes]
rs11097730	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.83[EUR][1000 genomes]
rs11097741	0.83[EUR][1000 genomes]
rs12504397	0.82[EUR][1000 genomes]
rs12508219	0.85[JPT][hapmap];0.83[EUR][1000 genomes]
rs12509168	0.91[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs12640093	0.91[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs1477314	0.96[CEU][hapmap];0.86[JPT][hapmap]
rs1559119	0.96[CEU][hapmap];0.86[JPT][hapmap]
rs1559122	0.96[CEU][hapmap];0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs2042228	0.96[CEU][hapmap];0.86[JPT][hapmap]
rs28503908	0.84[CEU][hapmap]
rs4280759	0.91[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs4285107	0.83[EUR][1000 genomes]
rs4536958	0.83[EUR][1000 genomes]
rs4538513	0.83[EUR][1000 genomes]
rs4547817	0.91[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs4563522	0.90[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs4576030	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap]
rs4582179	0.81[JPT][hapmap]
rs4582180	0.95[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap]
rs4859475	0.95[CEU][hapmap];0.80[JPT][hapmap];0.83[EUR][1000 genomes]
rs4859477	0.96[CEU][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs4859751	0.84[CEU][hapmap]
rs4859752	1.00[CEU][hapmap]
rs4859753	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.83[EUR][1000 genomes]
rs4859754	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs4859755	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.83[EUR][1000 genomes]
rs4859756	0.91[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs4859758	0.83[EUR][1000 genomes]
rs6532904	0.83[EUR][1000 genomes]
rs6532921	0.92[CEU][hapmap]
rs6822794	0.96[CEU][hapmap];0.86[JPT][hapmap]
rs6840915	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6845599	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6845942	0.90[ASN][1000 genomes]
rs6846698	0.91[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs6857792	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7690427	0.96[CEU][hapmap];0.81[JPT][hapmap];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000730	chr4:78109138-78210296	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1011551	chr4:78120872-78204224	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1012298	chr4:78120872-78255427	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv997743	chr4:78126462-78217004	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78125200-78127800	Weak transcription	Fetal Muscle Leg	muscle
2	chr4:78125200-78143600	Weak transcription	Primary B cells from cord blood	blood
3	chr4:78126200-78130600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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