Variant report

Variant	rs2600930
Chromosome Location	chr12:42920717-42920718
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:42919872..42921668-chr12:42939994..42942201,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10880310	0.97[ASN][1000 genomes]
rs10880312	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11181528	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11181541	1.00[ASN][1000 genomes]
rs11181546	0.82[JPT][hapmap]
rs12317317	1.00[ASN][1000 genomes]
rs1615978	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1669930	0.92[ASN][1000 genomes]
rs1669943	0.93[CHD][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs1796345	0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1796346	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2406683	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2708064	0.81[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6582399	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv832388	chr12:42878328-43087069	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42898400-42929000	Weak transcription	Fetal Kidney	kidney
2	chr12:42901600-42940200	Weak transcription	Ovary	ovary
3	chr12:42910800-42942000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:42911200-42941800	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:42913800-42957600	Weak transcription	HMEC	breast
6	chr12:42914000-42940800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:42914400-42952600	Weak transcription	Aorta	Aorta
8	chr12:42914600-42954800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:42915000-42928000	Weak transcription	Left Ventricle	heart
10	chr12:42917200-42921000	Strong transcription	HSMM	muscle
11	chr12:42917600-42928000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:42919000-42942400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr12:42919200-42921600	Enhancers	Fetal Heart	heart
14	chr12:42919200-42933600	Weak transcription	HSMMtube	muscle
15	chr12:42919200-42935400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:42919400-42923000	Weak transcription	Fetal Stomach	stomach
17	chr12:42919400-42925200	Weak transcription	Osteobl	bone
18	chr12:42919400-42928000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:42919600-42920800	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr12:42919600-42941000	Weak transcription	NH-A	brain
21	chr12:42919800-42929400	Weak transcription	HUVEC	blood vessel
22	chr12:42920600-42920800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr12:42920600-42925200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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