Variant report

Variant	rs4717591
Chromosome Location	chr7:70768510-70768511
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:70762205..70764072-chr7:70767417..70770414,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11760742	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11766837	0.83[AMR][1000 genomes]
rs11768233	0.87[CEU][hapmap];0.82[CHB][hapmap];0.90[GIH][hapmap];0.82[TSI][hapmap]
rs11771662	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13240200	0.87[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];0.84[TSI][hapmap]
rs1544441	0.82[CHB][hapmap]
rs1544443	0.82[CHB][hapmap]
rs17628870	0.91[ASW][hapmap];0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.82[YRI][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1922526	0.95[GIH][hapmap]
rs2527313	0.82[CHB][hapmap]
rs2707425	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs2707433	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs34445434	0.84[AMR][1000 genomes]
rs34822312	0.90[AMR][1000 genomes]
rs35964468	0.85[AMR][1000 genomes]
rs55690472	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6972973	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6974603	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6976905	0.92[GIH][hapmap]
rs7790268	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70751800-70768600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr7:70751800-70768800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:70752200-70773000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:70764000-70768800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:70765000-70775400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:70765800-70768600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:70765800-70768600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr7:70765800-70768600	Weak transcription	Fetal Lung	lung
9	chr7:70765800-70769000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr7:70765800-70790000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:70766000-70768600	Weak transcription	Colon Smooth Muscle	Colon
12	chr7:70766200-70769200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:70766200-70772400	Weak transcription	Fetal Muscle Leg	muscle
14	chr7:70767600-70768800	Weak transcription	Ovary	ovary
15	chr7:70767800-70769600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:70768200-70769000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:70768200-70769200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr7:70768200-70769400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:70768200-70769400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:70768200-70769400	Enhancers	NH-A	brain
21	chr7:70768200-70769600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr7:70768200-70769600	Enhancers	HSMMtube	muscle
23	chr7:70768200-70769800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:70768400-70768600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:70768400-70769000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr7:70768400-70769200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:70768400-70769200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:70768400-70769400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:70768400-70769400	Enhancers	Placenta Amnion	Placenta Amnion
30	chr7:70768400-70769600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr7:70768400-70769600	Enhancers	Fetal Stomach	stomach
32	chr7:70768400-70769600	Enhancers	Rectal Smooth Muscle	rectum

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