Variant report

Variant	rs12334283
Chromosome Location	chr7:47717883-47717884
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10156019	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10230114	0.81[ASN][1000 genomes]
rs10233927	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11765162	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28442161	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57543384	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6945881	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7458333	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv888003	chr7:47694270-47907214	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1024392	chr7:47707023-47758976	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1018608	chr7:47708525-47831535	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1024027	chr7:47709936-47743485	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1022906	chr7:47709936-47831535	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv1028355	chr7:47715107-47758976	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47706000-47721600	Enhancers	Placenta	Placenta
2	chr7:47711000-47718000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:47713200-47718000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:47713200-47718000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:47713200-47720600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:47713400-47718000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:47715800-47718000	Enhancers	Hela-S3	cervix
8	chr7:47716000-47718000	Enhancers	HepG2	liver
9	chr7:47716400-47719000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:47716400-47719000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:47716600-47718400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr7:47717000-47718800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr7:47717200-47718200	Enhancers	HMEC	breast
14	chr7:47717200-47718800	Enhancers	Adipose Nuclei	Adipose
15	chr7:47717400-47718000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr7:47717400-47718000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:47717400-47718200	Enhancers	Placenta Amnion	Placenta Amnion
18	chr7:47717400-47720000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr7:47717400-47720400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr7:47717600-47718400	Weak transcription	Primary B cells from peripheral blood	blood
21	chr7:47717600-47718600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr7:47717600-47718600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr7:47717600-47718600	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr7:47717600-47718800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:47717600-47719000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:47717600-47720000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr7:47717600-47720000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:47717600-47721400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr7:47717800-47718000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr7:47717800-47718800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr7:47717800-47718800	Enhancers	Fetal Muscle Leg	muscle
32	chr7:47717800-47719000	Enhancers	Fetal Muscle Trunk	muscle

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