Variant report

Variant	rs6967270
Chromosome Location	chr7:121579500-121579501
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1011693	0.87[EUR][1000 genomes]
rs1024713	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11767822	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1196478	0.86[EUR][1000 genomes]
rs1196480	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1196481	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1196483	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1196484	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1196486	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1196487	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1196488	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1196490	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1196491	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1196493	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1196494	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1196495	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1196496	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1196511	0.86[AMR][1000 genomes]
rs1206486	0.82[EUR][1000 genomes]
rs1206487	0.82[EUR][1000 genomes]
rs1206488	0.82[EUR][1000 genomes]
rs1206490	0.82[EUR][1000 genomes]
rs1206492	0.82[EUR][1000 genomes]
rs1206494	0.87[EUR][1000 genomes]
rs1206500	0.88[EUR][1000 genomes]
rs1206501	0.88[EUR][1000 genomes]
rs1206502	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1206504	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1206505	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1206507	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1206509	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1206514	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1206516	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1206517	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1211621	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12671846	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1526314	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1721857	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1721858	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1721859	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1916875	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1916876	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2024252	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2690271	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2690272	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28530500	0.80[ASN][1000 genomes]
rs4629793	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4731044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6961716	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs727766	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7794741	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7810556	0.87[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:30 , 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	chr7:121574000-121582400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
4	chr7:121574200-121581200	Weak transcription	Brain Germinal Matrix	brain
5	chr7:121575600-121581000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:121576200-121579800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:121576600-121582800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:121577000-121582400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr7:121577800-121579800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:121577800-121580800	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:121577800-121581000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:121578000-121579600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr7:121578200-121579600	Enhancers	Fetal Brain Female	brain
14	chr7:121578400-121580200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:121578400-121580200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:121578400-121582400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:121578400-121582600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:121578600-121579800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:121578600-121582800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr7:121578600-121583000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr7:121578800-121580200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr7:121578800-121583000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:121579000-121579600	Enhancers	NHEK	skin
24	chr7:121579000-121583000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr7:121579000-121583000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:121579200-121582200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr7:121579400-121580800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr7:121579400-121583000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr7:121579400-121583000	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr7:121579400-121585000	Weak transcription	Fetal Brain Male	brain

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