Variant report

Variant	rs4730516
Chromosome Location	chr7:111880170-111880171
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:111879038..111880794-chr7:111883732..111885374,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10226284	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10238141	0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10247876	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10259741	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10272126	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10272188	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10953708	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10953709	0.87[EUR][1000 genomes]
rs10953710	0.87[EUR][1000 genomes]
rs11760599	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11761807	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11762497	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11763356	0.86[ASN][1000 genomes]
rs11763768	0.85[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11767115	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11768608	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11768793	0.81[CHB][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11768891	0.86[CHB][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11769219	0.83[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11770767	1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11773393	0.84[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12666261	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12666328	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12668065	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12673259	0.82[JPT][hapmap]
rs12673830	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13230061	1.00[JPT][hapmap]
rs16873374	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17159341	0.84[ASN][1000 genomes]
rs17159389	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17159446	0.82[EUR][1000 genomes]
rs2301725	0.81[EUR][1000 genomes]
rs2520473	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs2520476	0.89[JPT][hapmap]
rs2523039	1.00[JPT][hapmap]
rs2708588	1.00[JPT][hapmap]
rs2708592	1.00[JPT][hapmap]
rs2708595	1.00[JPT][hapmap]
rs2708597	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs2708603	1.00[JPT][hapmap]
rs2708604	1.00[JPT][hapmap]
rs3807884	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3823515	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41281063	0.81[ASN][1000 genomes]
rs4730517	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730520	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4730529	0.81[JPT][hapmap]
rs55915049	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56675883	0.87[EUR][1000 genomes]
rs56969420	0.83[ASN][1000 genomes]
rs60445595	0.87[EUR][1000 genomes]
rs6949164	0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6955231	0.85[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs735150	0.90[JPT][hapmap]
rs7781245	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7792130	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7795336	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs886353	0.81[JPT][hapmap]
rs9641480	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9641481	0.84[EUR][1000 genomes];0.97[ASN][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	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111848000-111892800	Weak transcription	Primary B cells from cord blood	blood
2	chr7:111863800-111900200	Weak transcription	Left Ventricle	heart
3	chr7:111866800-111887000	Weak transcription	HSMMtube	muscle
4	chr7:111876800-111880200	Enhancers	A549	lung
5	chr7:111876800-111891800	Weak transcription	Primary T cells from cord blood	blood
6	chr7:111877000-111893600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:111879400-111903000	Weak transcription	Psoas Muscle	Psoas
8	chr7:111879600-111883000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:111879600-111883000	Weak transcription	HepG2	liver
10	chr7:111879600-111888800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:111879600-111894400	Weak transcription	Pancreas	Pancrea
12	chr7:111879800-111906200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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