Variant report

Variant	rs754143
Chromosome Location	chr12:41999984-41999985
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10880101	1.00[EUR][1000 genomes]
rs10880102	1.00[EUR][1000 genomes]
rs11181005	1.00[EUR][1000 genomes]
rs11181010	1.00[EUR][1000 genomes]
rs11181012	1.00[EUR][1000 genomes]
rs11181013	1.00[EUR][1000 genomes]
rs11181015	1.00[EUR][1000 genomes]
rs11181019	1.00[EUR][1000 genomes]
rs11181020	1.00[EUR][1000 genomes]
rs11181023	1.00[EUR][1000 genomes]
rs11181025	1.00[EUR][1000 genomes]
rs12227303	1.00[EUR][1000 genomes]
rs12230351	1.00[EUR][1000 genomes]
rs12581662	1.00[EUR][1000 genomes]
rs12582909	1.00[EUR][1000 genomes]
rs1497182	1.00[EUR][1000 genomes]
rs17129470	1.00[EUR][1000 genomes]
rs17129528	1.00[EUR][1000 genomes]
rs17129591	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17129603	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17129637	1.00[EUR][1000 genomes]
rs17129723	1.00[EUR][1000 genomes]
rs17129727	1.00[EUR][1000 genomes]
rs185937	1.00[ASN][1000 genomes]
rs2122796	1.00[EUR][1000 genomes]
rs286977	1.00[ASN][1000 genomes]
rs286995	1.00[ASN][1000 genomes]
rs287034	1.00[ASN][1000 genomes]
rs287035	0.91[ASN][1000 genomes]
rs287036	1.00[ASN][1000 genomes]
rs287038	0.95[ASN][1000 genomes]
rs287041	1.00[ASN][1000 genomes]
rs287046	1.00[ASN][1000 genomes]
rs287047	1.00[ASN][1000 genomes]
rs287049	1.00[ASN][1000 genomes]
rs287051	1.00[ASN][1000 genomes]
rs407628	1.00[ASN][1000 genomes]
rs426443	1.00[ASN][1000 genomes]
rs59284651	1.00[ASN][1000 genomes]
rs60761629	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7308874	0.98[ASN][1000 genomes]
rs7310375	0.98[ASN][1000 genomes]
rs7979088	1.00[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	esv3337301	chr12:41851654-42093677	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv899040	chr12:41905897-42181706	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41998000-42000600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr12:41998400-42001400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:41998600-42001200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:41998800-42000200	Enhancers	Fetal Lung	lung
5	chr12:41998800-42001000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr12:41998800-42001000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr12:41998800-42001200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr12:41998800-42001200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr12:41998800-42001200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr12:41998800-42001200	Enhancers	Fetal Kidney	kidney
11	chr12:41998800-42001400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr12:41998800-42001400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:41998800-42001400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:41999000-42000200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:41999000-42000600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr12:41999200-42000000	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr12:41999200-42001400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr12:41999400-42001200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr12:41999600-42000200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:41999600-42000200	Enhancers	H9 Cell Line	embryonic stem cell
21	chr12:41999600-42001200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:41999600-42001200	Enhancers	Brain Germinal Matrix	brain
23	chr12:41999800-42000200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:41999800-42000200	Enhancers	Spleen	Spleen
25	chr12:41999800-42001200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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