Variant report

Variant	rs1196486
Chromosome Location	chr7:121592181-121592182
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1011693	0.84[EUR][1000 genomes]
rs1024713	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11767822	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1196478	0.82[EUR][1000 genomes]
rs1196480	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1196481	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1196483	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1196484	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1196487	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1196488	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1196490	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1196491	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1196493	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1196494	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1196495	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1196496	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1196511	0.81[AMR][1000 genomes]
rs1206494	0.84[EUR][1000 genomes]
rs1206500	0.86[EUR][1000 genomes]
rs1206501	0.86[EUR][1000 genomes]
rs1206502	0.87[EUR][1000 genomes]
rs1206504	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1206505	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1206507	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1206509	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1206514	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1206516	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1206517	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1211621	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12671846	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1526314	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1721857	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1721858	0.82[EUR][1000 genomes]
rs1721859	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1916875	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1916876	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2024252	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2690271	0.82[EUR][1000 genomes]
rs2690272	0.83[EUR][1000 genomes]
rs4629793	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4731044	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6961716	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6967270	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7794741	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7810556	0.85[AMR][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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121571600-121597400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:121571800-121601200	Weak transcription	Esophagus	oesophagus
3	chr7:121582200-121595000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:121582600-121617600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:121583000-121592400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:121583000-121592600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr7:121586200-121601200	Weak transcription	Fetal Brain Female	brain
8	chr7:121586400-121592800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr7:121586400-121593800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:121587600-121593600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:121588000-121593200	Weak transcription	NHEK	skin
12	chr7:121590200-121592600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:121590600-121595200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr7:121590600-121596000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr7:121591800-121592200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr7:121591800-121592400	Active TSS	Placenta	Placenta
17	chr7:121591800-121593000	Enhancers	H1 Cell Line	embryonic stem cell
18	chr7:121591800-121593000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr7:121591800-121597800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr7:121592000-121593600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr7:121592000-121595000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:121592000-121595400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr7:121592000-121609600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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