Variant report

Variant	rs2256434
Chromosome Location	chr12:104240849-104240850
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104232946..104237794-chr12:104239535..104249085,16	K562	blood:
2	chr12:104239377..104242138-chr12:104243649..104245616,3	K562	blood:
3	chr12:104235213..104237106-chr12:104239740..104241594,2	MCF-7	breast:
4	chr12:104213748..104215908-chr12:104239137..104241310,2	K562	blood:

Variant related genes	Relation type
ENSG00000111696	Chromatin interaction
ENSG00000257327	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11111809	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1370410	1.00[CEU][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1370776	1.00[CEU][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1370780	0.93[CEU][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1370784	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1805214	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2245322	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2576977	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34187551	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34031	chr12:104114277-104298546	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2256434	NT5DC3	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104236000-104242000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:104236000-104242000	Weak transcription	Pancreas	Pancrea
3	chr12:104236000-104242800	Weak transcription	Aorta	Aorta
4	chr12:104236000-104243000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr12:104236000-104245000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:104236000-104252600	Weak transcription	Esophagus	oesophagus
7	chr12:104236000-104252600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:104236000-104253600	Weak transcription	Gastric	stomach
9	chr12:104236200-104241200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr12:104236200-104242000	Weak transcription	Fetal Lung	lung
11	chr12:104236200-104242400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr12:104236200-104246400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:104236400-104245000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:104236400-104246000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:104236600-104241400	Weak transcription	Liver	Liver
16	chr12:104236600-104248400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:104237000-104242000	Weak transcription	A549	lung
18	chr12:104238200-104246400	Weak transcription	Fetal Intestine Large	intestine
19	chr12:104238400-104241200	Weak transcription	Fetal Intestine Small	intestine
20	chr12:104239800-104242200	Weak transcription	Brain Anterior Caudate	brain
21	chr12:104240000-104243400	Enhancers	Colon Smooth Muscle	Colon
22	chr12:104240000-104247600	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr12:104240000-104254800	Enhancers	Rectal Smooth Muscle	rectum
24	chr12:104240800-104241200	Enhancers	NHDF-Ad	bronchial
25	chr12:104240800-104245800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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