Variant report

Variant	rs12567049
Chromosome Location	chr1:151829338-151829339
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151828500..151832022-chr1:151833324..151837098,3	K562	blood:
2	chr1:151637265..151639780-chr1:151828927..151831330,2	MCF-7	breast:
3	chr1:151803331..151805631-chr1:151828427..151830416,2	MCF-7	breast:
4	chr1:151822836..151827671-chr1:151828332..151832187,5	K562	blood:
5	chr1:151827756..151830746-chr1:151848383..151850324,3	MCF-7	breast:
6	chr1:151825580..151827671-chr1:151828953..151832187,3	K562	blood:
7	chr1:151818078..151821727-chr1:151829199..151833455,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196407	Chromatin interaction
ENSG00000143365	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1056037	0.84[ASN][1000 genomes]
rs1129117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12727170	0.81[ASN][1000 genomes]
rs16833584	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16833599	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16833604	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2279503	0.84[ASN][1000 genomes]
rs2879130	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60166269	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61815147	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6587625	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7524706	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7556386	0.85[ASN][1000 genomes]
rs923547	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs998500	0.82[ASN][1000 genomes]
rs998501	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[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	nsv1008033	chr1:151785029-151843154	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 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	chr1:151819200-151847600	Weak transcription	Thymus	Thymus
2	chr1:151821000-151830600	Weak transcription	Right Atrium	heart
3	chr1:151821400-151832400	Weak transcription	Spleen	Spleen
4	chr1:151821600-151845600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr1:151826400-151846200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr1:151827600-151829800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:151827600-151839800	Weak transcription	Hela-S3	cervix
8	chr1:151828200-151829800	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr1:151828200-151830000	Weak transcription	HMEC	breast
10	chr1:151828200-151835400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr1:151828400-151830000	Weak transcription	NHEK	skin
12	chr1:151828600-151829800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:151828600-151830800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:151828800-151829400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:151828800-151829400	Enhancers	Esophagus	oesophagus
16	chr1:151828800-151830000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:151828800-151830200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:151828800-151830800	Weak transcription	Osteobl	bone
19	chr1:151828800-151837000	Weak transcription	Right Ventricle	heart
20	chr1:151829000-151829800	Enhancers	Placenta	Placenta
21	chr1:151829000-151830000	Weak transcription	Ovary	ovary
22	chr1:151829000-151830200	Weak transcription	Adipose Nuclei	Adipose
23	chr1:151829000-151830400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:151829000-151830600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:151829000-151845200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:151829200-151830600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:151829200-151830600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:151829200-151832000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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