Variant report

Variant	rs12111665
Chromosome Location	chr7:39472919-39472920
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs12112344	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533673	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17171576	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17171577	1.00[AMR][1000 genomes]
rs17171578	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17171579	1.00[AMR][1000 genomes]
rs17713095	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17713107	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17713143	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17769981	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17769987	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2052017	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2052018	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2052019	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2073539	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2073545	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs2237384	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237386	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237387	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237388	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237392	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs2237394	0.91[ASN][1000 genomes]
rs2237397	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs2237398	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs2237399	0.91[ASN][1000 genomes]
rs2282915	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2299134	1.00[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs3800850	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs3819416	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6948411	1.00[AMR][1000 genomes]
rs73386460	1.00[AMR][1000 genomes]
rs73386463	1.00[AMR][1000 genomes]
rs73386466	1.00[AMR][1000 genomes]
rs73386468	1.00[AMR][1000 genomes]
rs73386479	1.00[AMR][1000 genomes]
rs73386490	1.00[AMR][1000 genomes]
rs73388304	1.00[AMR][1000 genomes]
rs73388309	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73388311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73388323	1.00[AMR][1000 genomes]
rs73388355	1.00[AMR][1000 genomes]
rs758247	1.00[AMR][1000 genomes]
rs980392	0.91[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	nsv1021180	chr7:39424988-39642261	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1026951	chr7:39429036-39642261	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv966782	chr7:39454992-39581886	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1018430	chr7:39455497-39643569	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39468400-39473800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:39471400-39474000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:39471800-39473000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:39471800-39474200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:39472000-39473600	Enhancers	Primary B cells from cord blood	blood
6	chr7:39472200-39473200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr7:39472200-39473400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:39472400-39473600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr7:39472400-39474000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr7:39472600-39473000	ZNF genes & repeats	Pancreas	Pancrea
11	chr7:39472600-39474000	Enhancers	Primary B cells from peripheral blood	blood
12	chr7:39472800-39473200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr7:39472800-39473800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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