Variant report

Variant	rs62499475
Chromosome Location	chr7:96796796-96796797
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10256036	0.93[EUR][1000 genomes]
rs10953203	0.94[EUR][1000 genomes]
rs10953204	0.93[EUR][1000 genomes]
rs11976587	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11984368	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1199287	0.95[EUR][1000 genomes]
rs1199288	0.95[EUR][1000 genomes]
rs12670377	0.95[EUR][1000 genomes]
rs2037782	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56074841	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60195718	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62499465	0.94[EUR][1000 genomes]
rs62499469	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62499470	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62499471	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62499474	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62499477	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62499478	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62499479	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73233828	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73233831	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73233843	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][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	nsv1019725	chr7:96749866-96850819	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv539029	chr7:96749866-96850819	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:96760400-96796800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:96768800-96797800	Weak transcription	Left Ventricle	heart
3	chr7:96769000-96799600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr7:96769000-96811600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr7:96771400-96818200	Weak transcription	A549	lung
6	chr7:96783600-96797000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr7:96785600-96796800	Weak transcription	HepG2	liver
8	chr7:96787400-96797600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:96789400-96812400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:96789400-96815400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr7:96789400-96818000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:96789600-96797000	Weak transcription	Aorta	Aorta
13	chr7:96789600-96797200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:96789600-96797200	Weak transcription	Lung	lung
15	chr7:96789600-96805200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr7:96789600-96818400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr7:96790400-96814600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:96790600-96797000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:96790600-96811200	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr7:96790600-96811600	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr7:96790600-96813600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr7:96790600-96813600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr7:96790800-96797200	Weak transcription	Primary B cells from cord blood	blood
24	chr7:96790800-96797200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr7:96791000-96796800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr7:96791000-96798000	Weak transcription	Primary B cells from peripheral blood	blood
27	chr7:96791200-96797000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr7:96791800-96811600	Weak transcription	Adipose Nuclei	Adipose
29	chr7:96793600-96797200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:96794200-96797000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr7:96796000-96811800	Weak transcription	K562	blood
32	chr7:96796200-96797600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
33	chr7:96796400-96797000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:96796400-96798000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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