Variant report

Variant	rs885338
Chromosome Location	chr7:47971626-47971627
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	chr7:47970714..47972227-chr7:47974264..47976545,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10261436	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10281977	0.83[ASN][1000 genomes]
rs10499669	0.91[CEU][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12534886	0.87[ASN][1000 genomes]
rs12667562	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12669119	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1474283	0.94[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs17131948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1829730	0.89[ASN][1000 genomes]
rs2177165	0.87[ASN][1000 genomes]
rs2307252	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs2348665	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs2686782	0.86[YRI][hapmap]
rs2686792	0.81[YRI][hapmap]
rs3176491	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3176568	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3176581	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3176595	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs36213466	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4720625	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56075223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59023024	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59920101	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62447088	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62447089	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62447093	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6463454	0.89[ASN][1000 genomes]
rs73695940	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7802908	0.94[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv830991	chr7:47854530-48025996	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv532120	chr7:47882757-48195869	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv470221	chr7:47917495-48354363	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv464442	chr7:47917495-48354820	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv606893	chr7:47917495-48354820	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47934000-48001800	Weak transcription	Psoas Muscle	Psoas
2	chr7:47965000-47972200	Weak transcription	Fetal Stomach	stomach
3	chr7:47965800-47980400	Weak transcription	Aorta	Aorta
4	chr7:47966600-47974000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:47967000-47977400	Weak transcription	Right Ventricle	heart
6	chr7:47967600-47993400	Weak transcription	Brain Anterior Caudate	brain
7	chr7:47969200-47972000	Weak transcription	Left Ventricle	heart
8	chr7:47969200-47973800	Weak transcription	Lung	lung
9	chr7:47970600-47972600	Enhancers	Fetal Muscle Trunk	muscle
10	chr7:47970600-47972600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr7:47970600-47972800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:47970600-47972800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr7:47970600-47972800	Enhancers	Fetal Muscle Leg	muscle
14	chr7:47970600-47972800	Enhancers	HSMMtube	muscle
15	chr7:47970600-47973200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:47970800-47972200	Enhancers	HSMM	muscle
17	chr7:47970800-47972400	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr7:47970800-47972600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:47970800-47972600	Enhancers	Adipose Nuclei	Adipose
20	chr7:47970800-47972800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:47971000-47972000	Weak transcription	Fetal Thymus	thymus
22	chr7:47971000-47972200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:47971000-47972200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:47971400-47972600	Enhancers	Right Atrium	heart
25	chr7:47971600-47972600	Enhancers	Osteobl	bone

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