Variant report

Variant	rs3823552
Chromosome Location	chr7:137400609-137400610
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12056089	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12707364	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12707367	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12707372	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1424370	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1424371	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1834143	0.82[ASN][1000 genomes]
rs1991084	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2113428	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2882781	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3778799	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3800628	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3800630	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3800636	0.90[ASN][1000 genomes]
rs3800637	0.90[ASN][1000 genomes]
rs4728420	0.80[ASN][1000 genomes]
rs4732263	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4732264	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6971978	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6976725	0.82[ASN][1000 genomes]
rs7806658	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7806810	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv464731	chr7:137356651-137404781	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
3	nsv608466	chr7:137356651-137404781	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137396400-137400800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr7:137399200-137400800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:137399200-137401200	Enhancers	Osteobl	bone
4	chr7:137399200-137403200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:137399400-137403600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:137399600-137400800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:137399600-137401800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:137399600-137402600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr7:137399800-137400800	Enhancers	NHDF-Ad	bronchial
10	chr7:137399800-137403200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:137400000-137401000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:137400000-137401000	Enhancers	HSMM	muscle
13	chr7:137400200-137400800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:137400200-137400800	Enhancers	NH-A	brain
15	chr7:137400200-137401600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:137400200-137402600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:137400400-137400800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr7:137400400-137400800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:137400400-137400800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:137400400-137402800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr7:137400600-137400800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr7:137400600-137400800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:137400600-137400800	Enhancers	Brain Anterior Caudate	brain
24	chr7:137400600-137400800	Enhancers	Right Atrium	heart
25	chr7:137400600-137400800	Enhancers	HSMMtube	muscle
26	chr7:137400600-137401000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:137400600-137401000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:137400600-137401600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr7:137400600-137403800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr7:137400600-137404000	Enhancers	HUES64 Cell Line	embryonic stem cell

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