Variant report

Variant	rs7517945
Chromosome Location	chr1:150850498-150850499
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150549744..150554023-chr1:150847608..150851573,5	K562	blood:
2	chr1:150848716..150851402-chr1:150897221..150900291,3	MCF-7	breast:
3	chr1:150847931..150851587-chr1:150853004..150856091,6	K562	blood:
4	chr1:150849390..150851277-chr1:150877417..150879109,2	MCF-7	breast:
5	chr1:150846965..150851829-chr1:150851958..150856513,6	MCF-7	breast:
6	chr1:150847356..150848927-chr1:150849575..150851202,2	K562	blood:
7	chr1:150847391..150850807-chr1:150896212..150900555,5	MCF-7	breast:
8	chr1:150847696..150850504-chr1:150946094..150948149,2	K562	blood:
9	chr1:150849097..150850809-chr1:150979255..150981896,2	MCF-7	breast:
10	chr1:150336081..150337653-chr1:150849061..150850708,2	K562	blood:
11	chr1:150846958..150850554-chr1:150897225..150899118,3	K562	blood:
12	chr1:150848386..150850942-chr1:150853921..150858032,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143409	Chromatin interaction
ENSG00000163125	Chromatin interaction
ENSG00000212512	Chromatin interaction
ENSG00000143384	Chromatin interaction
ENSG00000143363	Chromatin interaction
ENSG00000143418	Chromatin interaction
ENSG00000224800	Chromatin interaction
ENSG00000143379	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11204728	1.00[AMR][1000 genomes]
rs1415147	1.00[AMR][1000 genomes]
rs6587519	1.00[AMR][1000 genomes]
rs6587521	1.00[AMR][1000 genomes]
rs6587522	1.00[AMR][1000 genomes]
rs6587534	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7515228	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7518440	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7518546	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829859	chr1:150608894-150937329	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv872418	chr1:150683512-150860471	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
5	nsv2810	chr1:150835173-150879869	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1008496	chr1:150845827-150970656	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150849200-150852800	Weak transcription	NHLF	lung
2	chr1:150849600-150850800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:150849600-150851200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:150849600-150851600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:150849600-150853400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:150849600-150853600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:150849800-150851400	Weak transcription	Thymus	Thymus
8	chr1:150849800-150853000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:150849800-150853000	Weak transcription	Fetal Lung	lung
10	chr1:150849800-150853400	Weak transcription	HSMM	muscle
11	chr1:150849800-150853600	Weak transcription	HSMMtube	muscle
12	chr1:150849800-150853600	Weak transcription	NH-A	brain
13	chr1:150849800-150854200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:150850000-150851200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:150850000-150851400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:150850000-150851400	Weak transcription	Osteobl	bone
17	chr1:150850000-150851600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:150850000-150851600	Weak transcription	NHDF-Ad	bronchial
19	chr1:150850000-150852600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:150850000-150853000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:150850000-150853400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:150850000-150853400	Weak transcription	Adipose Nuclei	Adipose
23	chr1:150850000-150853400	Weak transcription	Placenta	Placenta
24	chr1:150850000-150853400	Weak transcription	HMEC	breast
25	chr1:150850000-150853600	Weak transcription	NHEK	skin
26	chr1:150850000-150855200	Weak transcription	GM12878-XiMat	blood
27	chr1:150850200-150850800	Enhancers	HepG2	liver
28	chr1:150850200-150851600	Weak transcription	K562	blood
29	chr1:150850200-150852400	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr1:150850200-150853400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:150850200-150853400	Weak transcription	Hela-S3	cervix
32	chr1:150850200-150853600	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr1:150850400-150852600	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr1:150850400-150853800	Weak transcription	Liver	Liver

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