Variant report

Variant	rs10949893
Chromosome Location	chr7:90359685-90359686
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:18)

rs_ID	r²[population]
rs10242581	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10264008	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1871247	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2100949	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34143656	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4718062	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs605699	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs607031	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs628162	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs640815	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6460137	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6460138	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6460139	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6460142	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs776299	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7796487	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7806014	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs812337	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532172	chr7:89950062-90792406	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1024635	chr7:90248244-90554745	Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1018691	chr7:90285114-90588594	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv539022	chr7:90285114-90588594	Enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv531403	chr7:90301167-90492609	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1020637	chr7:90318056-90486822	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:90339000-90365000	Weak transcription	Left Ventricle	heart
2	chr7:90346800-90364400	Weak transcription	Right Ventricle	heart
3	chr7:90347600-90364400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:90350600-90364600	Weak transcription	Lung	lung
5	chr7:90351400-90364400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:90351400-90365200	Weak transcription	HUVEC	blood vessel
7	chr7:90355800-90364200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:90356000-90366600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:90356200-90359800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr7:90356200-90361200	Weak transcription	Fetal Muscle Leg	muscle
11	chr7:90356200-90364400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:90356200-90364400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:90356200-90364400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:90356200-90364400	Weak transcription	Fetal Stomach	stomach
15	chr7:90356200-90364400	Weak transcription	Ovary	ovary
16	chr7:90356400-90362800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr7:90356400-90378600	Weak transcription	Aorta	Aorta
18	chr7:90356800-90392200	Weak transcription	Adipose Nuclei	Adipose
19	chr7:90357200-90363000	Weak transcription	Fetal Lung	lung
20	chr7:90357200-90363600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:90357200-90366200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:90357200-90367000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr7:90357200-90376600	Weak transcription	NHDF-Ad	bronchial
24	chr7:90357200-90381600	Weak transcription	Osteobl	bone
25	chr7:90357400-90364800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr7:90357400-90366000	Weak transcription	HMEC	breast
27	chr7:90357400-90366200	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr7:90358200-90364600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:90358200-90365200	Weak transcription	NHLF	lung
30	chr7:90358400-90361200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr7:90358600-90364600	Weak transcription	Right Atrium	heart
32	chr7:90358600-90378800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:90358600-90378800	Weak transcription	Pancreas	Pancrea
34	chr7:90359200-90360200	Weak transcription	Primary B cells from peripheral blood	blood
35	chr7:90359400-90359800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:90359400-90360000	ZNF genes & repeats	Primary B cells from cord blood	blood

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