Variant report

Variant	rs1196484
Chromosome Location	chr7:121595175-121595176
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1011693	0.86[EUR][1000 genomes]
rs1024713	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11767822	0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1196478	0.82[CEU][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1196479	0.89[YRI][hapmap]
rs1196480	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1196481	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1196483	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1196486	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1196487	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1196488	0.89[CEU][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1196489	0.93[YRI][hapmap]
rs1196490	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1196491	0.89[CEU][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1196493	0.85[CEU][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1196494	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1196495	0.86[CEU][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1196496	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1196511	0.87[AMR][1000 genomes]
rs1206486	0.81[EUR][1000 genomes]
rs1206487	0.81[EUR][1000 genomes]
rs1206488	0.81[EUR][1000 genomes]
rs1206490	0.81[EUR][1000 genomes]
rs1206492	0.81[EUR][1000 genomes]
rs1206494	0.86[EUR][1000 genomes]
rs1206500	0.87[EUR][1000 genomes]
rs1206501	0.81[CEU][hapmap];0.87[EUR][1000 genomes]
rs1206502	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1206504	0.81[CEU][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1206505	0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1206507	0.81[CEU][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1206509	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1206514	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1206516	0.81[CEU][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1206517	0.81[CEU][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1211621	0.92[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12671846	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1526314	0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1721857	0.83[CEU][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1721858	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1721859	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1916875	0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1916876	0.89[CEU][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2024252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2690271	0.82[CEU][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2690272	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4629793	0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4731044	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6961716	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6967270	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs727766	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7794741	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[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: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	chr7:121582600-121617600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:121586200-121601200	Weak transcription	Fetal Brain Female	brain
5	chr7:121590600-121595200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr7:121590600-121596000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr7:121591800-121597800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr7:121592000-121595400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr7:121592000-121609600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:121592200-121595600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr7:121592600-121595400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr7:121592800-121595800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr7:121593000-121598000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
14	chr7:121593000-121600800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr7:121593400-121598600	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:121593600-121595400	Enhancers	H9 Cell Line	embryonic stem cell
17	chr7:121593800-121595400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:121593800-121595400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:121594200-121595400	Enhancers	NHEK	skin
20	chr7:121594200-121595600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:121594200-121597200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:121594400-121595800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:121594400-121599600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:121594800-121595400	Enhancers	NHDF-Ad	bronchial
25	chr7:121594800-121595600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr7:121594800-121595600	Enhancers	HMEC	breast
27	chr7:121594800-121595800	Enhancers	NH-A	brain
28	chr7:121595000-121595200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr7:121595000-121595400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr7:121595000-121595800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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