Variant report

Variant	rs2010247
Chromosome Location	chr6:144356665-144356666
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144355070..144357503-chr6:144413513..144415682,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11961603	1.00[EUR][1000 genomes]
rs57960633	1.00[EUR][1000 genomes]
rs59407195	1.00[EUR][1000 genomes]
rs6909239	1.00[EUR][1000 genomes]
rs6917779	1.00[EUR][1000 genomes]
rs6925139	1.00[EUR][1000 genomes]
rs73778567	1.00[EUR][1000 genomes]
rs7743408	1.00[EUR][1000 genomes]
rs7768171	1.00[EUR][1000 genomes]
rs9484844	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3408554	chr6:144106707-144369589	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv3522138	chr6:144174685-144367463	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3522139	chr6:144174685-144367463	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv830830	chr6:144177942-144380870	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144351000-144357400	Weak transcription	Fetal Kidney	kidney
2	chr6:144353600-144357400	Weak transcription	Right Atrium	heart
3	chr6:144354600-144357000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr6:144355000-144357400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr6:144355200-144357200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:144355200-144357200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:144355200-144357200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:144355400-144357200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:144355400-144357200	Weak transcription	NHLF	lung
10	chr6:144355600-144356800	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr6:144355600-144356800	Enhancers	Primary hematopoietic stem cells	blood
12	chr6:144355600-144356800	Weak transcription	Placenta	Placenta
13	chr6:144355600-144357000	Weak transcription	Adipose Nuclei	Adipose
14	chr6:144355600-144357200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:144355600-144357200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:144355600-144357200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr6:144355600-144357400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:144355600-144357400	Weak transcription	Aorta	Aorta
19	chr6:144355600-144359800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:144355800-144357200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:144355800-144357200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr6:144355800-144357400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:144356000-144356800	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr6:144356000-144357200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:144356200-144357200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:144356200-144357200	Weak transcription	Osteobl	bone
27	chr6:144356400-144356800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:144356400-144356800	Weak transcription	NHDF-Ad	bronchial
29	chr6:144356600-144357200	Enhancers	Primary B cells from cord blood	blood
30	chr6:144356600-144357800	Enhancers	Lung	lung
31	chr6:144356600-144358200	Enhancers	Spleen	Spleen

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