Variant report

Variant	rs1206483
Chromosome Location	chr7:121550190-121550191
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1007522	0.88[CEU][hapmap];0.91[JPT][hapmap];0.92[EUR][1000 genomes]
rs1007784	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1011693	0.87[JPT][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10256242	0.81[CEU][hapmap];0.91[JPT][hapmap]
rs10275407	0.86[EUR][1000 genomes]
rs11978007	0.89[CEU][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes]
rs1206473	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1206477	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1206480	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1206481	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1206482	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1206486	0.87[JPT][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1206487	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1206488	0.81[CHB][hapmap];0.87[JPT][hapmap];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1206490	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1206492	0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1206494	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1206500	0.87[JPT][hapmap];0.81[AMR][1000 genomes]
rs1206501	0.86[JPT][hapmap];0.81[AMR][1000 genomes]
rs1206502	0.81[AMR][1000 genomes]
rs12666526	0.85[EUR][1000 genomes]
rs1916880	1.00[CEU][hapmap];0.95[JPT][hapmap];0.94[EUR][1000 genomes]
rs1916883	0.94[EUR][1000 genomes]
rs1916886	1.00[CEU][hapmap];0.95[JPT][hapmap];0.93[EUR][1000 genomes]
rs1916887	0.94[EUR][1000 genomes]
rs1916888	0.92[CEU][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes]
rs1916889	0.93[CEU][hapmap];0.96[JPT][hapmap];0.92[EUR][1000 genomes]
rs2024249	0.89[CEU][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes]
rs2191782	0.85[EUR][1000 genomes]
rs2215572	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs3757549	0.89[CEU][hapmap];0.96[JPT][hapmap];0.86[EUR][1000 genomes]
rs3757550	0.95[JPT][hapmap]
rs740960	0.94[EUR][1000 genomes]
rs740964	0.85[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7778179	0.89[EUR][1000 genomes]
rs7797305	0.81[CEU][hapmap];0.95[JPT][hapmap]
rs7808915	0.83[EUR][1000 genomes]
rs960539	0.89[CEU][hapmap];0.91[JPT][hapmap];0.85[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429808	chr7:121384049-121600049	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr7:121523200-121552600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:121531200-121558200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:121534800-121554200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:121541000-121552000	Weak transcription	NHEK	skin
5	chr7:121541200-121552200	Weak transcription	Fetal Brain Female	brain
6	chr7:121542200-121553200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr7:121545600-121551400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:121545600-121571400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:121546000-121553600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr7:121549200-121550200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr7:121549200-121550600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
12	chr7:121549400-121550400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:121549400-121552200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr7:121549600-121550200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr7:121549600-121552600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:121549800-121550200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:121549800-121550400	Enhancers	Fetal Brain Male	brain
18	chr7:121550000-121550200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:121550000-121550400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr7:121550000-121550400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr7:121550000-121550400	Enhancers	Brain Germinal Matrix	brain
22	chr7:121550000-121550400	Enhancers	Fetal Lung	lung
23	chr7:121550000-121550600	Enhancers	Ovary	ovary
24	chr7:121550000-121554800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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