Variant report

Variant	rs1206509
Chromosome Location	chr7:121575351-121575352
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1011693	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1024713	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11767822	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1196480	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1196481	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1196483	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1196484	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1196486	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1196487	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1196488	0.83[EUR][1000 genomes]
rs1196490	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1196491	0.83[EUR][1000 genomes]
rs1196493	0.81[EUR][1000 genomes]
rs1196494	0.81[EUR][1000 genomes]
rs1196495	0.80[EUR][1000 genomes]
rs1196511	0.83[EUR][1000 genomes]
rs1206486	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1206487	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1206488	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1206490	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1206492	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1206494	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1206500	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1206501	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1206502	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1206504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1206505	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1206507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1206514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1206516	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1206517	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1211621	0.84[EUR][1000 genomes]
rs12154537	0.80[ASN][1000 genomes]
rs12671846	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13241278	0.80[ASN][1000 genomes]
rs1526314	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1721859	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1916875	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1916876	0.83[EUR][1000 genomes]
rs2024252	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28530500	0.83[EUR][1000 genomes]
rs4629793	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4731044	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6961716	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6967270	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs727766	0.88[EUR][1000 genomes]
rs7794741	0.88[EUR][1000 genomes];0.87[ASN][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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121565800-121576800	Weak transcription	Fetal Brain Female	brain
2	chr7:121571400-121577400	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:121571600-121597400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:121571800-121576400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr7:121571800-121576600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:121571800-121578400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:121571800-121601200	Weak transcription	Esophagus	oesophagus
8	chr7:121572000-121576600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr7:121572000-121576600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:121572000-121576800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:121572000-121576800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:121573000-121576600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:121573000-121577000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:121573200-121576200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:121574000-121575600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr7:121574000-121575600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:121574000-121582400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
18	chr7:121574200-121575600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:121574200-121581200	Weak transcription	Brain Germinal Matrix	brain
20	chr7:121574400-121576000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr7:121575000-121575400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr7:121575000-121575400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr7:121575000-121575400	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr7:121575000-121576200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:121575000-121577200	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr7:121575000-121579000	Weak transcription	NHEK	skin
27	chr7:121575200-121575400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr7:121575200-121575400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr7:121575200-121575400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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