Variant report

Variant	rs12037936
Chromosome Location	chr1:47780929-47780930
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:47696558..47698524-chr1:47778724..47781604,2	K562	blood:
2	chr1:47695872..47699054-chr1:47778639..47781604,5	K562	blood:
3	chr1:47780261..47782876-chr1:47787046..47789299,3	MCF-7	breast:
4	chr1:47694063..47695820-chr1:47778325..47781365,3	K562	blood:
5	chr1:47772551..47781833-chr1:47797933..47806586,42	K562	blood:
6	chr1:47778595..47781681-chr1:47798356..47800996,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162368	Chromatin interaction
ENSG00000162367	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10789505	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11211478	0.89[AMR][1000 genomes]
rs11211483	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11578611	0.94[AMR][1000 genomes]
rs11584578	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11589932	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12029934	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12032890	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2070930	0.94[AMR][1000 genomes]
rs2208773	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3737770	0.82[AMR][1000 genomes]
rs6588124	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6682899	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]

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	esv3390574	chr1:47778981-47803091	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47778000-47781200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:47778400-47781200	Active TSS	Hela-S3	cervix
3	chr1:47780200-47798400	Weak transcription	Spleen	Spleen
4	chr1:47780400-47784000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:47780600-47781200	Enhancers	Dnd41	blood
6	chr1:47780600-47782800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:47780600-47782800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:47780600-47782800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:47780600-47782800	Weak transcription	NHDF-Ad	bronchial
10	chr1:47780600-47782800	Weak transcription	Osteobl	bone
11	chr1:47780600-47783200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:47780600-47783200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:47780600-47783400	Weak transcription	HepG2	liver
14	chr1:47780600-47783400	Weak transcription	NHLF	lung
15	chr1:47780600-47784000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:47780600-47798000	Weak transcription	HSMMtube	muscle
17	chr1:47780800-47781200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:47780800-47781200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:47780800-47781200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:47780800-47781400	Enhancers	K562	blood
21	chr1:47780800-47782800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:47780800-47782800	Weak transcription	Right Ventricle	heart
23	chr1:47780800-47783600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:47780800-47789200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:47780800-47791200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:47780800-47797800	Weak transcription	Fetal Muscle Leg	muscle

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