Variant report

Variant	rs11983547
Chromosome Location	chr7:71073440-71073441
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:71066016..71069657-chr7:71072660..71076246,4	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10227562	1.00[CEU][hapmap];0.86[MEX][hapmap];0.85[TSI][hapmap]
rs10235822	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10237977	1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10240023	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10243758	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10246555	0.80[EUR][1000 genomes]
rs10246838	0.86[ASN][1000 genomes]
rs10247797	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs10254307	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs10255382	0.80[EUR][1000 genomes]
rs10265750	0.80[EUR][1000 genomes]
rs10270941	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10273024	0.88[ASW][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10280626	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10950271	1.00[CHD][hapmap];0.93[TSI][hapmap]
rs11971870	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs11972325	1.00[CEU][hapmap];0.86[MEX][hapmap];0.92[TSI][hapmap];0.80[EUR][1000 genomes]
rs11972408	1.00[JPT][hapmap]
rs11972420	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.86[ASN][1000 genomes]
rs11973528	0.83[ASN][1000 genomes]
rs11975959	0.86[ASN][1000 genomes]
rs11979523	0.80[EUR][1000 genomes]
rs11982829	1.00[JPT][hapmap]
rs11983226	1.00[JPT][hapmap]
rs1404955	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1464900	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1464904	1.00[CHD][hapmap]
rs1467333	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17143750	1.00[JPT][hapmap]
rs17143757	0.80[EUR][1000 genomes]
rs17143763	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17143779	1.00[JPT][hapmap]
rs1880636	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.86[ASN][1000 genomes]
rs2867474	0.87[AMR][1000 genomes]
rs2867477	0.86[ASN][1000 genomes]
rs28758566	0.80[EUR][1000 genomes]
rs34083706	0.83[ASN][1000 genomes]
rs34636742	0.83[ASN][1000 genomes]
rs36185213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4263633	0.86[ASN][1000 genomes]
rs4484575	0.86[ASN][1000 genomes]
rs57799997	0.86[ASN][1000 genomes]
rs60120787	0.86[ASN][1000 genomes]
rs60298147	0.86[ASN][1000 genomes]
rs6944213	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6947665	0.86[ASN][1000 genomes]
rs6951947	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6961952	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6964202	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6977420	1.00[CEU][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap]
rs73371247	0.80[EUR][1000 genomes]
rs73371248	0.80[EUR][1000 genomes]
rs73371257	0.80[EUR][1000 genomes]
rs73371264	0.80[EUR][1000 genomes]
rs73371269	0.80[EUR][1000 genomes]
rs73371270	0.80[EUR][1000 genomes]
rs73702237	0.86[ASN][1000 genomes]
rs7789555	0.86[ASN][1000 genomes]
rs7795733	0.86[ASN][1000 genomes]
rs7805142	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015261	chr7:70404302-71255933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1026896	chr7:71003462-71721516	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv516049	chr7:71026463-71280299	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1019799	chr7:71027947-71274161	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv538938	chr7:71027947-71274161	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1016182	chr7:71033825-71285800	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1034811	chr7:71033825-71288961	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1024288	chr7:71039619-71285800	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1027835	chr7:71055226-71281334	Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv538939	chr7:71055226-71281334	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1026364	chr7:71055226-71287960	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv538940	chr7:71055226-71287960	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv948337	chr7:71057204-71277518	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71024800-71079400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:71053800-71075400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:71054200-71077200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:71067200-71077000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr7:71068800-71075200	Weak transcription	Aorta	Aorta
6	chr7:71070200-71075200	Weak transcription	Ovary	ovary
7	chr7:71071400-71076000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:71073000-71077200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:71073200-71077600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:71073400-71076600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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