Variant report

Variant	rs1196496
Chromosome Location	chr7:121599145-121599146
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1196478	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1196480	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1196481	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1196483	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1196484	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1196486	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1196487	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1196488	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1196490	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1196491	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1196493	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1196494	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1196495	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1196511	0.97[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1211621	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1721857	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1721858	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1721859	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1916876	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2024252	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2690271	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2690272	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4731044	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6961716	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6967270	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs727766	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7794741	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7810556	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv966880	chr7:121596048-121599300	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121571800-121601200	Weak transcription	Esophagus	oesophagus
2	chr7:121582600-121617600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:121586200-121601200	Weak transcription	Fetal Brain Female	brain
4	chr7:121592000-121609600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:121593000-121600800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr7:121594400-121599600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:121595200-121600600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:121595400-121599200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:121595400-121600000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:121595400-121600000	Weak transcription	Fetal Brain Male	brain
11	chr7:121595400-121600000	Weak transcription	NHEK	skin
12	chr7:121595400-121600800	Weak transcription	NHDF-Ad	bronchial
13	chr7:121595400-121601000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr7:121595400-121601200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:121595400-121601400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:121595600-121599200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr7:121595600-121600600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr7:121595800-121600800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr7:121595800-121600800	Weak transcription	NH-A	brain
20	chr7:121595800-121601000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:121596000-121600800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr7:121596000-121618400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:121596800-121601200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:121597600-121601200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:121597800-121600800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr7:121597800-121601200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr7:121598000-121599200	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr7:121598600-121600000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:121598800-121599200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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