Variant report

Variant	rs917111
Chromosome Location	chr7:70869278-70869279
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	chr7:70856131..70858873-chr7:70867703..70870975,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10216049	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10224696	1.00[GIH][hapmap]
rs10241279	1.00[CEU][hapmap];0.88[YRI][hapmap];0.96[EUR][1000 genomes]
rs10245173	1.00[CEU][hapmap];0.93[YRI][hapmap];0.83[EUR][1000 genomes]
rs10258157	1.00[CEU][hapmap];0.93[YRI][hapmap];0.83[EUR][1000 genomes]
rs10267558	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs10272342	1.00[CEU][hapmap]
rs10278132	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs11764267	1.00[CEU][hapmap]
rs11976077	1.00[CEU][hapmap]
rs12540623	1.00[CEU][hapmap]
rs12540683	1.00[GIH][hapmap]
rs2068591	0.83[EUR][1000 genomes]
rs2960870	1.00[CEU][hapmap];0.82[YRI][hapmap];0.83[EUR][1000 genomes]
rs4421255	1.00[CEU][hapmap]
rs4719098	1.00[CEU][hapmap]
rs73362017	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73363781	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats 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 miRNA	6 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70853400-70885800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:70860800-70869600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:70864600-70870400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:70867600-70881000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr7:70867800-70871400	Enhancers	Fetal Lung	lung
6	chr7:70868000-70869800	Weak transcription	Right Ventricle	heart
7	chr7:70868200-70869600	Enhancers	Fetal Brain Male	brain
8	chr7:70868200-70881800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:70868200-70892400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr7:70868400-70870200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr7:70868400-70870400	Enhancers	Fetal Muscle Leg	muscle
12	chr7:70868600-70869600	Weak transcription	Left Ventricle	heart
13	chr7:70868800-70869600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr7:70868800-70870000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:70868800-70872200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr7:70868800-70882200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr7:70869000-70871600	Enhancers	Fetal Heart	heart
18	chr7:70869000-70873200	Weak transcription	Fetal Brain Female	brain
19	chr7:70869000-70875400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:70869200-70869600	Enhancers	Aorta	Aorta
21	chr7:70869200-70870400	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr7:70869200-70870400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
23	chr7:70869200-70870400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
24	chr7:70869200-70880800	Weak transcription	Ovary	ovary

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