Variant report

Variant	rs12082513
Chromosome Location	chr1:93224656-93224657
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:93222826..93225248-chr1:93296209..93297825,2	MCF-7	breast:
2	chr1:93214790..93219134-chr1:93222182..93225825,4	K562	blood:
3	chr1:93222521..93225056-chr1:93227048..93229710,2	K562	blood:

Variant related genes	Relation type
ENSG00000122406	Chromatin interaction
ENSG00000234202	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11164793	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11164794	0.82[AFR][1000 genomes]
rs11164795	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11164797	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11164802	0.82[AFR][1000 genomes]
rs11164817	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11164834	1.00[AMR][1000 genomes]
rs11164852	1.00[AMR][1000 genomes]
rs12061768	0.88[AFR][1000 genomes]
rs12064459	1.00[AMR][1000 genomes]
rs12066223	1.00[AMR][1000 genomes]
rs12069560	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12074805	0.89[AFR][1000 genomes]
rs12077455	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12078923	0.82[AFR][1000 genomes]
rs12091803	1.00[AMR][1000 genomes]
rs12092810	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28716853	0.80[AFR][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	nsv997898	chr1:93167128-93228156	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS 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	51 gene(s)	inside rSNPs	diseases
3	nsv871263	chr1:93196273-93248228	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93192400-93226400	Weak transcription	Esophagus	oesophagus
2	chr1:93209200-93227800	Weak transcription	Primary B cells from cord blood	blood
3	chr1:93211800-93249200	Weak transcription	Fetal Stomach	stomach
4	chr1:93214000-93231200	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr1:93214000-93240000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:93214000-93248400	Weak transcription	Lung	lung
7	chr1:93219400-93224800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:93219800-93225600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:93220200-93227600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:93220400-93225000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:93220400-93225800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:93220400-93232800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:93221400-93233800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:93221600-93224800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:93222000-93248000	Weak transcription	HSMMtube	muscle
16	chr1:93222400-93224800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:93222400-93230000	Weak transcription	NHEK	skin
18	chr1:93222400-93233800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:93222400-93234000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:93222400-93240600	Weak transcription	Left Ventricle	heart
21	chr1:93222400-93248200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:93222400-93248200	Weak transcription	Fetal Intestine Large	intestine
23	chr1:93222400-93248400	Weak transcription	Placenta	Placenta
24	chr1:93222600-93231000	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr1:93222600-93232600	Weak transcription	Gastric	stomach
26	chr1:93222600-93246800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:93222800-93224800	Weak transcription	K562	blood
28	chr1:93222800-93227000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr1:93222800-93233800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:93224200-93225600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:93224400-93225600	Enhancers	Muscle Satellite Cultured Cells	--
32	chr1:93224400-93226000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:93224600-93224800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:93224600-93224800	ZNF genes & repeats	Fetal Intestine Small	intestine
35	chr1:93224600-93224800	Enhancers	Psoas Muscle	Psoas
36	chr1:93224600-93224800	Enhancers	NHDF-Ad	bronchial
37	chr1:93224600-93225600	Enhancers	Osteobl	bone

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