Variant report

Variant	rs12613036
Chromosome Location	chr2:211007521-211007522
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12151736	0.87[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs12468576	0.86[CHB][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs2286963	1.00[ASW][hapmap];0.96[CEU][hapmap];0.81[CHB][hapmap];0.83[CHD][hapmap];0.87[GIH][hapmap];0.87[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap]
rs3738934	0.83[ASW][hapmap];0.84[CEU][hapmap];0.83[CHD][hapmap];0.87[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.95[MKK][hapmap]
rs3764913	1.00[ASW][hapmap];0.96[CEU][hapmap];0.85[GIH][hapmap];0.81[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap]
rs7585265	1.00[ASW][hapmap];0.80[CEU][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap]
rs7601356	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431969	chr2:210682494-211074494	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv1795338	chr2:210758078-211098113	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv1802749	chr2:210905194-211255611	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv875766	chr2:210996084-211033176	Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12613036	FLJ23861	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210965000-211009800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:210978000-211010600	Weak transcription	Small Intestine	intestine
3	chr2:210978200-211009600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:210981400-211009600	Weak transcription	Pancreas	Pancrea
5	chr2:210981400-211009800	Weak transcription	Gastric	stomach
6	chr2:210981600-211009600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:210983600-211009600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:210989200-211010000	Weak transcription	Osteobl	bone
9	chr2:210990400-211010000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:210990600-211018200	Weak transcription	Fetal Heart	heart
11	chr2:210991000-211009600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:210991000-211010000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:210991000-211010400	Weak transcription	Fetal Brain Male	brain
14	chr2:210991000-211018200	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:210991400-211009800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr2:210991400-211018200	Weak transcription	HSMMtube	muscle
17	chr2:210991800-211011600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:210992200-211010000	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr2:210992400-211015000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr2:210992600-211009600	Weak transcription	Aorta	Aorta
21	chr2:210992600-211009600	Weak transcription	Fetal Stomach	stomach
22	chr2:210992600-211009600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr2:210992800-211008600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr2:210992800-211008600	Weak transcription	Fetal Lung	lung
25	chr2:210992800-211009600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:210993000-211009600	Weak transcription	Thymus	Thymus
27	chr2:210993400-211009400	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr2:210993400-211009600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:210993400-211009600	Weak transcription	Adipose Nuclei	Adipose
30	chr2:210993400-211010000	Weak transcription	Brain Hippocampus Middle	brain
31	chr2:210994000-211009000	Weak transcription	Fetal Thymus	thymus
32	chr2:210994000-211009200	Weak transcription	Liver	Liver
33	chr2:210994000-211009400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:210994000-211009400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr2:210994000-211009600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr2:210994000-211009600	Weak transcription	Ovary	ovary
37	chr2:210994000-211009600	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr2:210994000-211009800	Weak transcription	Brain Angular Gyrus	brain
39	chr2:210994000-211009800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr2:210994000-211010000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr2:210994200-211009800	Weak transcription	Brain Substantia Nigra	brain
42	chr2:210994800-211010000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr2:210994800-211012800	Weak transcription	Stomach Mucosa	stomach
44	chr2:210996000-211009600	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr2:210996000-211009600	Weak transcription	Left Ventricle	heart
46	chr2:210997200-211022000	Weak transcription	Psoas Muscle	Psoas
47	chr2:210999800-211009600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr2:211001600-211009000	Weak transcription	Primary B cells from cord blood	blood
49	chr2:211001800-211010600	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr2:211002000-211010200	Weak transcription	Brain Anterior Caudate	brain

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