Variant report

Variant	rs912577
Chromosome Location	chr6:147231940-147231941
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:147229677..147239083-chr6:147521152..147530893,22	K562	blood:
2	chr6:147229321..147232231-chr6:147553682..147556359,2	K562	blood:
3	chr6:147231935..147237791-chr6:147522176..147527834,11	MCF-7	breast:
4	chr6:147230413..147232261-chr6:147234463..147236812,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233452	Chromatin interaction
ENSG00000164506	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1467623	0.88[JPT][hapmap]
rs1998641	0.88[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs4895704	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs724774	0.86[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs877660	0.88[JPT][hapmap]
rs912580	0.88[JPT][hapmap]
rs9377035	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9390435	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9399589	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9399590	0.88[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap]
rs9403825	0.92[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9403828	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][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	nsv830838	chr6:147090745-147274669	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2760996	chr6:147229457-147269633	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147224000-147233600	Weak transcription	HSMM	muscle
2	chr6:147225200-147233600	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr6:147225400-147233600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr6:147226800-147233200	Weak transcription	A549	lung
5	chr6:147226800-147233800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr6:147227000-147233000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr6:147227000-147233000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:147227000-147235000	Weak transcription	Fetal Lung	lung
9	chr6:147227000-147235000	Weak transcription	Right Atrium	heart
10	chr6:147227400-147232800	Weak transcription	Hela-S3	cervix
11	chr6:147227400-147233600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:147227800-147233800	Weak transcription	HMEC	breast
13	chr6:147228000-147234400	Weak transcription	Fetal Kidney	kidney
14	chr6:147229200-147234000	Enhancers	K562	blood
15	chr6:147230400-147232000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr6:147231000-147234600	Weak transcription	Fetal Intestine Small	intestine
17	chr6:147231200-147232000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:147231400-147232000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:147231400-147232000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:147231400-147232400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:147231400-147232800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:147231600-147232000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr6:147231600-147232000	Enhancers	HSMMtube	muscle
24	chr6:147231600-147232200	Enhancers	NHLF	lung
25	chr6:147231600-147232400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:147231600-147233800	Enhancers	NHDF-Ad	bronchial
27	chr6:147231600-147234600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr6:147231600-147235000	Weak transcription	Gastric	stomach
29	chr6:147231800-147232000	Enhancers	Ovary	ovary
30	chr6:147231800-147232200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:147231800-147232200	Enhancers	Osteobl	bone
32	chr6:147231800-147232400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:147231800-147235000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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