Variant report

Variant	rs41531052
Chromosome Location	chr5:147836129-147836130
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:147828231..147830520-chr5:147834285..147837059,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10058828	0.82[ASN][1000 genomes]
rs10062444	0.85[ASN][1000 genomes]
rs10515608	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs10515611	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs11948260	1.00[EUR][1000 genomes]
rs11953091	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs11957083	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs11959374	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs1345740	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs1363706	1.00[EUR][1000 genomes]
rs1422971	1.00[EUR][1000 genomes]
rs1422972	1.00[EUR][1000 genomes]
rs17108199	1.00[EUR][1000 genomes]
rs17108205	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs17108209	1.00[EUR][1000 genomes]
rs17719549	1.00[EUR][1000 genomes]
rs17719614	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs17719733	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs17719769	1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs17719787	1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs17719822	1.00[EUR][1000 genomes]
rs17719932	1.00[EUR][1000 genomes]
rs17720060	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs17720226	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs17720357	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17720407	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17776270	1.00[EUR][1000 genomes]
rs17776324	1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs17776590	1.00[EUR][1000 genomes]
rs17776792	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs17776900	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs17776978	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs2303057	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[EUR][1000 genomes]
rs58943147	1.00[EUR][1000 genomes]
rs60540892	1.00[EUR][1000 genomes]
rs61508663	1.00[EUR][1000 genomes]
rs61555444	1.00[EUR][1000 genomes]
rs61601119	1.00[EUR][1000 genomes]
rs6863921	1.00[EUR][1000 genomes]
rs6873482	1.00[EUR][1000 genomes]
rs6873778	1.00[EUR][1000 genomes]
rs6888281	1.00[EUR][1000 genomes]
rs6890544	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs6897195	1.00[EUR][1000 genomes]
rs73264531	1.00[EUR][1000 genomes]
rs7719881	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830516	chr5:147801104-147966093	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147822400-147839200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr5:147831800-147837000	Enhancers	Fetal Heart	heart
3	chr5:147832400-147837000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:147833600-147836800	Enhancers	Brain Germinal Matrix	brain
5	chr5:147834600-147836200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:147835200-147836400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr5:147835200-147836600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr5:147835200-147836600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr5:147835200-147836800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:147835400-147836600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr5:147835600-147836600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:147835600-147838000	Weak transcription	Left Ventricle	heart
13	chr5:147835800-147845000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:147835800-147848000	Weak transcription	Right Ventricle	heart
15	chr5:147836000-147838200	Weak transcription	Right Atrium	heart

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