Variant report

Variant	rs2174183
Chromosome Location	chr4:127688434-127688435
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:127653930..127656479-chr4:127687621..127689645,2	K562	blood:
2	chr4:127686781..127688466-chr4:127878771..127880801,2	K562	blood:
3	chr4:127684073..127686472-chr4:127688061..127689744,2	K562	blood:
4	chr4:127687681..127689418-chr4:127698728..127701287,2	K562	blood:
5	chr4:127678287..127680328-chr4:127686704..127688877,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1014773	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10857116	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10857117	0.83[AFR][1000 genomes]
rs11098891	0.92[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11098892	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1167192	0.87[ASN][1000 genomes]
rs12054615	0.83[ASN][1000 genomes]
rs12163770	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12650177	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12650738	0.86[ASN][1000 genomes]
rs13145010	0.80[ASN][1000 genomes]
rs13148138	0.98[AFR][1000 genomes]
rs13151312	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1491136	0.86[ASN][1000 genomes]
rs1491137	0.86[ASN][1000 genomes]
rs1503620	0.86[ASN][1000 genomes]
rs17011495	0.87[ASN][1000 genomes]
rs1955281	0.85[EUR][1000 genomes]
rs2008243	0.86[ASN][1000 genomes]
rs2047858	0.83[ASN][1000 genomes]
rs313116	0.80[ASN][1000 genomes]
rs4618330	0.84[EUR][1000 genomes]
rs5004421	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56654496	0.82[ASN][1000 genomes]
rs57259679	0.92[ASN][1000 genomes]
rs58743449	0.84[ASN][1000 genomes]
rs61031744	0.84[ASN][1000 genomes]
rs61613462	0.84[ASN][1000 genomes]
rs6817065	0.86[ASN][1000 genomes]
rs6835402	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6858446	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs73846080	0.81[ASN][1000 genomes]
rs73846081	0.81[ASN][1000 genomes]
rs73846082	0.81[ASN][1000 genomes]
rs73846083	0.81[ASN][1000 genomes]
rs7660412	0.92[ASN][1000 genomes]
rs7671513	0.88[AFR][1000 genomes]
rs7683495	0.92[ASN][1000 genomes]
rs7697724	0.94[CHD][hapmap];1.00[JPT][hapmap];0.82[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	nsv1012833	chr4:127468474-127760933	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv537242	chr4:127468474-127760933	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv524850	chr4:127470903-127768849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1007477	chr4:127561735-127726291	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv537244	chr4:127561735-127726291	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv879907	chr4:127646765-127709859	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	nsv879908	chr4:127646765-127749390	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	nsv879909	chr4:127646765-127792639	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv879910	chr4:127646765-127805466	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv879911	chr4:127646765-127835677	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127683800-127698000	Weak transcription	HMEC	breast
2	chr4:127685200-127698000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:127685600-127693800	Weak transcription	K562	blood
4	chr4:127688400-127693200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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