Variant report

Variant	rs1924692
Chromosome Location	chr6:147225989-147225990
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:147224255..147227210-chr6:147538729..147540565,2	K562	blood:
2	chr6:147222414..147228613-chr6:147523028..147527280,11	MCF-7	breast:
3	chr6:147222212..147229913-chr6:147522379..147526472,14	MCF-7	breast:
4	chr6:147221788..147226460-chr6:147542201..147549451,7	K562	blood:
5	chr6:147225843..147228171-chr6:147577371..147579455,2	K562	blood:
6	chr6:147223899..147226748-chr6:147275966..147278820,2	K562	blood:
7	chr6:147225563..147229055-chr6:147232316..147236006,4	MCF-7	breast:
8	chr6:147223830..147226657-chr6:147694168..147696836,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164506	Chromatin interaction
ENSG00000233452	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1022877	0.82[CHB][hapmap];0.81[CHD][hapmap];0.84[JPT][hapmap]
rs1324684	0.94[CHB][hapmap];0.81[CHD][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs1966195	0.94[CHB][hapmap];0.87[ASN][1000 genomes]
rs2328770	0.84[JPT][hapmap]
rs6570778	0.84[JPT][hapmap]
rs6915214	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs6915391	0.84[JPT][hapmap]
rs6929209	0.84[JPT][hapmap]
rs9399587	0.84[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1924692	EPM2A	cis	cerebellum	SCAN
rs1924692	RAB32	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147218200-147226600	Weak transcription	NHLF	lung
2	chr6:147222000-147226000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr6:147223200-147226800	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr6:147223200-147227200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:147223800-147227400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:147223800-147228200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr6:147224000-147226000	Weak transcription	A549	lung
8	chr6:147224000-147233600	Weak transcription	HSMM	muscle
9	chr6:147224200-147226200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr6:147224600-147226000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:147224600-147226000	Weak transcription	NHDF-Ad	bronchial
12	chr6:147224800-147226600	Weak transcription	K562	blood
13	chr6:147224800-147227400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:147225000-147226800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr6:147225000-147227000	Enhancers	Fetal Lung	lung
16	chr6:147225200-147233600	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr6:147225400-147226000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:147225400-147226200	Enhancers	Fetal Brain Male	brain
19	chr6:147225400-147226600	Weak transcription	Brain Germinal Matrix	brain
20	chr6:147225400-147226600	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr6:147225400-147233600	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr6:147225600-147226800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:147225800-147226000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:147225800-147226600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:147225800-147226800	Enhancers	Adipose Nuclei	Adipose
26	chr6:147225800-147227000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:147225800-147227000	Enhancers	Brain Cingulate Gyrus	brain
28	chr6:147225800-147227400	Enhancers	Osteobl	bone

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