Variant report

Variant	rs2945158
Chromosome Location	chr1:85041305-85041306
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:85040466..85042316-chr1:85099444..85102197,2	MCF-7	breast:
2	chr1:84966614..84978118-chr1:85034515..85041986,38	K562	blood:
3	chr1:84966967..84974535-chr1:85036439..85041823,24	K562	blood:
4	chr1:84943703..84948095-chr1:85037647..85043843,8	K562	blood:

Variant related genes	Relation type
ENSG00000174021	Chromatin interaction
ENSG00000117133	Chromatin interaction
ENSG00000122432	Chromatin interaction
ENSG00000180869	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs12403545	0.85[ASN][1000 genomes]
rs1246253	0.83[ASN][1000 genomes]
rs1246254	0.83[ASN][1000 genomes]
rs1246255	0.81[ASN][1000 genomes]
rs1400777	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1850508	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1850509	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2007454	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2303306	0.97[ASN][1000 genomes]
rs2303307	0.96[ASN][1000 genomes]
rs2389743	0.81[ASN][1000 genomes]
rs2911588	0.93[ASN][1000 genomes]
rs2911589	0.97[ASN][1000 genomes]
rs2911590	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2911591	0.98[ASN][1000 genomes]
rs2911592	0.94[ASN][1000 genomes]
rs2911593	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2911595	0.90[EUR][1000 genomes]
rs2911598	0.83[ASN][1000 genomes]
rs2911599	0.83[ASN][1000 genomes]
rs2911603	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2911604	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2911605	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2943663	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2943669	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2943670	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2943675	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2943676	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2943677	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2943678	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2945140	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2945142	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2945146	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2945148	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2945149	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2945150	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2945152	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2945153	0.96[ASN][1000 genomes]
rs2945155	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2945160	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2994937	0.83[ASN][1000 genomes]
rs2994940	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2994943	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2994944	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2994946	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2994947	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2994953	0.93[ASN][1000 genomes]
rs2994954	0.81[ASN][1000 genomes]
rs2994955	0.80[ASN][1000 genomes]
rs41299545	1.00[ASN][1000 genomes]
rs6576713	0.81[ASN][1000 genomes]
rs6692765	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7516200	0.80[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	nsv1000325	chr1:85032605-85100748	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85040000-85049400	Weak transcription	Spleen	Spleen
2	chr1:85040600-85041400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:85040600-85043200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:85040600-85048400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:85040800-85041400	Enhancers	Fetal Lung	lung
6	chr1:85040800-85042600	Weak transcription	HMEC	breast
7	chr1:85040800-85046600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:85040800-85048200	Weak transcription	Primary B cells from cord blood	blood
9	chr1:85040800-85048600	Weak transcription	Gastric	stomach
10	chr1:85040800-85049200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:85041000-85041400	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr1:85041000-85042400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:85041000-85042400	Weak transcription	NHEK	skin
14	chr1:85041000-85042600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:85041000-85042600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr1:85041000-85043400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr1:85041000-85044400	Weak transcription	Brain Substantia Nigra	brain
18	chr1:85041000-85048600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:85041000-85048800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr1:85041000-85051600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:85041200-85041400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr1:85041200-85041400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr1:85041200-85046400	Weak transcription	K562	blood
24	chr1:85041200-85047400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:85041200-85049400	Weak transcription	Primary monocytes fromperipheralblood	blood

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