Variant report

Variant	rs11051445
Chromosome Location	chr12:31636177-31636178
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11051443	0.96[AMR][1000 genomes]
rs1259424	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1259425	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs2617186	0.91[CHB][hapmap];0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv2751046	chr12:31174233-31684733	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv832364	chr12:31467990-31648144	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
5	esv1836923	chr12:31539122-31761172	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	nsv898965	chr12:31631819-31771689	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31542400-31645000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:31562400-31644400	Weak transcription	Brain Substantia Nigra	brain
3	chr12:31567800-31642800	Weak transcription	Brain Hippocampus Middle	brain
4	chr12:31577800-31649400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:31583400-31662000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:31585000-31642000	Weak transcription	Fetal Kidney	kidney
7	chr12:31594400-31648400	Weak transcription	Small Intestine	intestine
8	chr12:31605400-31647200	Weak transcription	Psoas Muscle	Psoas
9	chr12:31605600-31637000	Weak transcription	Fetal Stomach	stomach
10	chr12:31620200-31644800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:31625400-31636200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:31627600-31638800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:31628800-31643400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:31628800-31644200	Weak transcription	Pancreas	Pancrea
15	chr12:31628800-31655800	Weak transcription	Gastric	stomach
16	chr12:31629000-31645000	Weak transcription	Brain Angular Gyrus	brain
17	chr12:31630400-31655000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr12:31630800-31638800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:31631600-31644000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:31631800-31638800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr12:31632000-31638600	Weak transcription	Fetal Heart	heart
22	chr12:31632600-31638400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr12:31632600-31640800	Weak transcription	Fetal Lung	lung
24	chr12:31632800-31637000	Weak transcription	Fetal Intestine Small	intestine
25	chr12:31632800-31638600	Weak transcription	Placenta	Placenta
26	chr12:31632800-31644400	Weak transcription	Brain Germinal Matrix	brain
27	chr12:31632800-31645200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr12:31633000-31638400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:31633000-31638600	Weak transcription	Brain Anterior Caudate	brain
30	chr12:31633000-31641200	Weak transcription	Primary B cells from cord blood	blood
31	chr12:31633000-31644000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:31633000-31644000	Weak transcription	HepG2	liver
33	chr12:31633000-31644200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr12:31633000-31644400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:31633000-31644400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr12:31633000-31644400	Weak transcription	HSMMtube	muscle
37	chr12:31633000-31644600	Weak transcription	Colon Smooth Muscle	Colon
38	chr12:31633000-31645200	Weak transcription	Right Ventricle	heart
39	chr12:31633000-31648800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr12:31633000-31651600	Weak transcription	Fetal Muscle Leg	muscle
41	chr12:31633000-31652400	Weak transcription	Fetal Brain Female	brain
42	chr12:31633200-31638000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr12:31633200-31638400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:31633200-31641400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:31633200-31642200	Weak transcription	Liver	Liver
46	chr12:31633200-31644400	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr12:31633200-31644400	Weak transcription	HSMM	muscle
48	chr12:31633200-31644600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr12:31633200-31645000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr12:31633200-31647200	Weak transcription	Primary hematopoietic stem cells	blood

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