Variant report

Variant	rs12735662
Chromosome Location	chr1:180551151-180551152
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180494034..180495925-chr1:180548786..180551301,2	MCF-7	breast:
2	chr1:180544457..180546986-chr1:180548754..180551276,2	MCF-7	breast:
3	chr1:180550860..180552393-chr1:180552818..180555669,2	MCF-7	breast:
4	chr1:180550479..180555497-chr1:180560043..180567544,7	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10494531	1.00[ASN][1000 genomes]
rs12073348	0.83[ASN][1000 genomes]
rs12077656	1.00[CHB][hapmap]
rs12562357	0.81[CEU][hapmap]
rs12723609	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12754682	0.81[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16856420	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs17301118	1.00[ASN][1000 genomes]
rs17301132	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17373022	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.85[MKK][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17373133	1.00[ASN][1000 genomes]
rs3845400	1.00[ASN][1000 genomes]
rs3845401	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6663339	1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[MKK][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67466592	0.84[AMR][1000 genomes]
rs72720941	1.00[ASN][1000 genomes]
rs72720943	1.00[ASN][1000 genomes]
rs72720953	1.00[ASN][1000 genomes]
rs72720958	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180548800-180551400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:180549000-180551200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:180549000-180551400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:180549000-180552000	Enhancers	Osteobl	bone
5	chr1:180549200-180551200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:180549200-180551200	Enhancers	Placenta	Placenta
7	chr1:180549200-180555600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:180549400-180554800	Weak transcription	Stomach Mucosa	stomach
9	chr1:180549800-180553800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:180549800-180554800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:180550000-180554000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:180550200-180551400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:180550200-180554000	Weak transcription	NHEK	skin
14	chr1:180550400-180551200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr1:180550400-180551200	Enhancers	NH-A	brain
16	chr1:180550400-180554800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:180550600-180551200	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr1:180550600-180551200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr1:180550600-180555800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:180550800-180551200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr1:180550800-180554000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:180550800-180554000	Weak transcription	Pancreas	Pancrea
23	chr1:180551000-180552000	Enhancers	K562	blood
24	chr1:180551000-180553600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr1:180551000-180554000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:180551000-180554000	Weak transcription	HMEC	breast
27	chr1:180551000-180554600	Weak transcription	HSMMtube	muscle
28	chr1:180551000-180555800	Weak transcription	HSMM	muscle

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