Variant report

Variant	rs12137702
Chromosome Location	chr1:222055757-222055758
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:222054959..222056987-chr1:222068819..222070435,2	K562	blood:
2	chr1:222047877..222050005-chr1:222054985..222056926,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10746414	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.88[MEX][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11118883	0.87[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11118890	1.00[ASN][1000 genomes]
rs11118891	1.00[ASN][1000 genomes]
rs11577023	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11582814	1.00[CHB][hapmap]
rs12125690	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs12126771	1.00[ASN][1000 genomes]
rs12126886	1.00[ASN][1000 genomes]
rs12726661	1.00[ASN][1000 genomes]
rs12731429	1.00[ASN][1000 genomes]
rs12738322	1.00[ASN][1000 genomes]
rs12748885	1.00[ASN][1000 genomes]
rs35192818	1.00[ASN][1000 genomes]
rs4129271	1.00[ASN][1000 genomes]
rs56199684	1.00[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	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12137702	C1orf115	cis	parietal	SCAN
rs12137702	TAF1A	cis	lymphoblastoid	seeQTL
rs12137702	IARS2	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222048600-222073600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:222048800-222060800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:222051000-222056000	Enhancers	NHDF-Ad	bronchial
4	chr1:222051600-222055800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:222052400-222059400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:222052600-222058600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:222053000-222058000	Weak transcription	Psoas Muscle	Psoas
8	chr1:222053000-222058400	Weak transcription	HSMM	muscle
9	chr1:222053000-222059200	Weak transcription	HMEC	breast
10	chr1:222053000-222059600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:222053000-222059600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:222053000-222060200	Weak transcription	HSMMtube	muscle
13	chr1:222053000-222060400	Weak transcription	Aorta	Aorta
14	chr1:222053800-222056800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr1:222054000-222058600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:222054200-222059400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:222054600-222059400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:222055000-222059400	Weak transcription	Adipose Nuclei	Adipose
19	chr1:222055200-222056000	Enhancers	Osteobl	bone
20	chr1:222055400-222055800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:222055400-222059800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:222055400-222060400	Weak transcription	Ovary	ovary

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