Variant report

Variant	rs10494039
Chromosome Location	chr1:223600851-223600852
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:223595218..223598867-chr1:223599008..223602408,5	K562	blood:
2	chr1:223592334..223594672-chr1:223600258..223603185,3	K562	blood:
3	chr1:223599220..223603471-chr1:223604968..223609274,4	MCF-7	breast:
4	chr1:223598585..223601286-chr1:223707386..223708910,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1115114	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11590684	1.00[CHB][hapmap]
rs12134824	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12141995	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17162072	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61839881	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7526539	0.90[AMR][1000 genomes];0.81[EUR][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	nsv832670	chr1:223561771-223683381	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv4687	chr1:223565080-223610362	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 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	chr1:223595200-223609200	Weak transcription	Right Atrium	heart
2	chr1:223597200-223602600	Weak transcription	Pancreas	Pancrea
3	chr1:223597400-223603000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:223597600-223602200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:223597600-223602400	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:223597600-223602400	Weak transcription	HMEC	breast
7	chr1:223597600-223602600	Weak transcription	Ovary	ovary
8	chr1:223597600-223602600	Weak transcription	Right Ventricle	heart
9	chr1:223597800-223602000	Weak transcription	Fetal Heart	heart
10	chr1:223597800-223603600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:223598200-223602400	Weak transcription	NHDF-Ad	bronchial
12	chr1:223598400-223602000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:223598400-223602200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr1:223599200-223602600	Weak transcription	Osteobl	bone
15	chr1:223599400-223604600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr1:223599600-223602400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:223600000-223601000	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr1:223600200-223601000	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr1:223600200-223601800	Weak transcription	Esophagus	oesophagus
20	chr1:223600400-223601600	Enhancers	Primary T cells from cord blood	blood
21	chr1:223600400-223602000	Weak transcription	Aorta	Aorta
22	chr1:223600400-223602200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:223600600-223601400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:223600600-223601800	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:223600800-223602200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr1:223600800-223602400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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