Variant report

Variant	rs1040105
Chromosome Location	chr4:119284556-119284557
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	chr4:119202015..119204587-chr4:119283908..119285983,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10000812	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1022287	0.83[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1022288	0.81[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1110948	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13124806	0.80[ASN][1000 genomes]
rs1514657	0.92[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1514659	0.85[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.82[MKK][hapmap];0.92[ASN][1000 genomes]
rs1810260	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2389620	0.87[ASN][1000 genomes]
rs4279285	0.92[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4833566	0.86[JPT][hapmap]
rs4833575	0.82[ASN][1000 genomes]
rs4834679	0.92[CHB][hapmap];0.93[CHD][hapmap];0.85[JPT][hapmap];0.90[MKK][hapmap];0.92[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4834681	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs581739	0.81[ASN][1000 genomes]
rs582448	0.96[CHD][hapmap];0.85[JPT][hapmap];0.84[TSI][hapmap];0.82[ASN][1000 genomes]
rs586073	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs586224	0.93[CHD][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs593966	0.81[ASN][1000 genomes]
rs597881	0.81[ASN][1000 genomes]
rs59799599	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs608228	0.82[ASN][1000 genomes]
rs610222	0.80[ASN][1000 genomes]
rs613083	0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs613443	0.81[ASN][1000 genomes]
rs617140	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs62328865	0.81[ASN][1000 genomes]
rs62328871	0.82[ASN][1000 genomes]
rs627249	0.93[CHD][hapmap];0.86[JPT][hapmap];0.84[TSI][hapmap];0.82[ASN][1000 genomes]
rs641962	0.81[ASN][1000 genomes]
rs662086	0.81[ASN][1000 genomes]
rs674514	0.81[ASN][1000 genomes]
rs6810739	0.91[ASN][1000 genomes]
rs6828232	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6838716	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs705838	0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs705841	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7669243	0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7688951	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs788647	0.87[ASN][1000 genomes]
rs788650	0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs788651	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs788655	0.86[JPT][hapmap];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs788656	0.92[CHB][hapmap];0.93[CHD][hapmap];0.93[JPT][hapmap];0.92[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs788658	0.85[CHB][hapmap];0.93[JPT][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs788661	0.82[ASN][1000 genomes]
rs788662	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs788668	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs788669	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs871769	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs871770	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs908152	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv34038	chr4:119035124-119455391	Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1001138	chr4:119095147-119461837	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv537230	chr4:119095147-119461837	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1002771	chr4:119125361-119571237	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv1003731	chr4:119138262-119506032	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv482277	chr4:119261543-119408886	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv461631	chr4:119261939-119308603	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv595331	chr4:119261939-119308603	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv525540	chr4:119279098-119303024	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119283000-119284600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr4:119283000-119284600	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr4:119283000-119284600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr4:119283200-119284600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr4:119283200-119284600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:119283200-119285400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr4:119284200-119284600	Enhancers	NHDF-Ad	bronchial

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