Variant report

Variant	rs58688605
Chromosome Location	chr7:137263287-137263288
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	chr7:137256136..137257936-chr7:137262366..137264782,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10429242	1.00[AMR][1000 genomes]
rs1609249	1.00[AMR][1000 genomes]
rs56757293	1.00[AMR][1000 genomes]
rs57437520	1.00[AMR][1000 genomes]
rs58529038	1.00[AMR][1000 genomes]
rs61051125	1.00[AMR][1000 genomes]
rs61751966	1.00[EUR][1000 genomes]
rs6958415	1.00[AMR][1000 genomes]
rs6967718	1.00[AMR][1000 genomes]
rs706571	1.00[AMR][1000 genomes]
rs7802675	1.00[AMR][1000 genomes]
rs7808760	1.00[AMR][1000 genomes]
rs834449	1.00[AMR][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	nsv869820	chr7:136990386-137347718	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1027868	chr7:137004690-137311653	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv539134	chr7:137004690-137311653	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1022793	chr7:137187383-137619359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137215400-137275400	Weak transcription	Brain Angular Gyrus	brain
2	chr7:137224400-137274800	Weak transcription	HSMMtube	muscle
3	chr7:137237200-137264000	Weak transcription	NH-A	brain
4	chr7:137237400-137277800	Weak transcription	Aorta	Aorta
5	chr7:137249800-137265000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:137251000-137264600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:137255000-137274800	Weak transcription	Brain Anterior Caudate	brain
8	chr7:137257400-137264400	Weak transcription	NHDF-Ad	bronchial
9	chr7:137257600-137264400	Weak transcription	Fetal Heart	heart
10	chr7:137259600-137264200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:137260400-137274200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:137261000-137264400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:137261800-137264800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:137262000-137263600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr7:137262000-137264400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:137262000-137265200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:137262200-137263400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:137262400-137263400	Strong transcription	Osteobl	bone
19	chr7:137262400-137264000	Weak transcription	HMEC	breast
20	chr7:137262400-137264400	Weak transcription	NHLF	lung
21	chr7:137262600-137263600	Enhancers	H9 Cell Line	embryonic stem cell
22	chr7:137262600-137263600	Strong transcription	Muscle Satellite Cultured Cells	--
23	chr7:137262800-137263600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:137262800-137263800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:137262800-137264400	Weak transcription	HSMM	muscle
26	chr7:137263000-137263600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr7:137263200-137263400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr7:137263200-137263400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr7:137263200-137263400	Enhancers	Fetal Stomach	stomach
30	chr7:137263200-137263600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:137263200-137263600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr7:137263200-137264400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:137263200-137265000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr7:137263200-137265800	Enhancers	HUVEC	blood vessel

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