Variant report

Variant	rs12411992
Chromosome Location	chr10:50346307-50346308
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:50346301-50349044	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50345704..50347282-chr10:50347596..50350389,2	K562	blood:

Variant related genes	Relation type
FAM170B	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs35925709	1.00[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs57040525	1.00[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs60527365	1.00[AFR][1000 genomes]
rs6537502	0.92[EUR][1000 genomes]
rs6537503	0.92[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	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 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	chr10:50340400-50347600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:50342200-50347000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr10:50342200-50349800	Enhancers	Fetal Lung	lung
4	chr10:50343000-50357800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr10:50343800-50346800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr10:50344000-50346400	Weak transcription	Ovary	ovary
7	chr10:50344000-50347600	Weak transcription	Right Ventricle	heart
8	chr10:50344200-50346600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr10:50344200-50346800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr10:50344200-50346800	Weak transcription	Right Atrium	heart
11	chr10:50344200-50347600	Weak transcription	Esophagus	oesophagus
12	chr10:50344200-50352200	Weak transcription	Fetal Thymus	thymus
13	chr10:50344400-50346400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr10:50344400-50347400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr10:50345600-50347000	Weak transcription	K562	blood
16	chr10:50345600-50349600	Enhancers	Fetal Muscle Leg	muscle
17	chr10:50345800-50349000	Enhancers	Fetal Stomach	stomach
18	chr10:50345800-50349200	Enhancers	Fetal Muscle Trunk	muscle
19	chr10:50346000-50346800	Enhancers	NHDF-Ad	bronchial
20	chr10:50346200-50346400	Enhancers	Left Ventricle	heart
21	chr10:50346200-50346400	Enhancers	Psoas Muscle	Psoas
22	chr10:50346200-50346600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr10:50346200-50346800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr10:50346200-50346800	Enhancers	Osteobl	bone
25	chr10:50346200-50347200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr10:50346200-50347400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr10:50346200-50347400	Enhancers	NH-A	brain
28	chr10:50346200-50349000	Enhancers	Adipose Nuclei	Adipose
29	chr10:50346200-50349800	Enhancers	NHLF	lung
30	chr10:50346200-50354400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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