Variant report

Variant	rs789735
Chromosome Location	chr12:64539680-64539681
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11832841	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs11835401	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs11835930	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11838032	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17100093	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17100102	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17100105	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2270731	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs35994401	0.82[ASN][1000 genomes]
rs3803105	0.82[ASN][1000 genomes]
rs57729579	0.82[ASN][1000 genomes]
rs59228761	0.82[ASN][1000 genomes]
rs59329353	0.82[ASN][1000 genomes]
rs59776688	0.82[ASN][1000 genomes]
rs7298523	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs73321318	0.82[ASN][1000 genomes]
rs73321360	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321378	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74099279	0.82[ASN][1000 genomes]
rs74099280	0.82[ASN][1000 genomes]
rs74099281	0.82[ASN][1000 genomes]
rs789734	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][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	esv3351487	chr12:64420364-64763950	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv3509287	chr12:64526217-64736995	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3509288	chr12:64526217-64736995	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64522200-64541200	Weak transcription	Colonic Mucosa	Colon
2	chr12:64522400-64541200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:64522800-64540800	Weak transcription	Fetal Kidney	kidney
4	chr12:64524400-64541200	Weak transcription	Gastric	stomach
5	chr12:64528000-64540800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:64528000-64541200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:64528000-64541400	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:64528600-64540400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:64531600-64554400	Weak transcription	NH-A	brain
10	chr12:64533800-64541200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr12:64535400-64540000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:64535400-64540400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:64535400-64541400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:64535400-64542400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:64535600-64539800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:64535600-64540000	Strong transcription	Fetal Intestine Large	intestine
17	chr12:64535600-64540200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:64535600-64540400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:64535600-64540400	Strong transcription	NHDF-Ad	bronchial
20	chr12:64535600-64540600	Strong transcription	Fetal Brain Female	brain
21	chr12:64535600-64540800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:64535600-64541000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:64535600-64541400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:64535600-64541400	Strong transcription	HSMMtube	muscle
25	chr12:64535800-64539800	Strong transcription	Fetal Muscle Leg	muscle
26	chr12:64535800-64540400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:64535800-64540400	Strong transcription	Osteobl	bone
28	chr12:64536000-64539800	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr12:64536400-64541200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:64536400-64541200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:64536400-64541200	Weak transcription	Brain Angular Gyrus	brain
32	chr12:64537000-64541400	Weak transcription	Liver	Liver
33	chr12:64537000-64542600	Weak transcription	Esophagus	oesophagus
34	chr12:64537000-64545600	Weak transcription	Brain Substantia Nigra	brain
35	chr12:64537200-64546400	Weak transcription	Stomach Mucosa	stomach
36	chr12:64537400-64540400	Weak transcription	Brain Anterior Caudate	brain
37	chr12:64537400-64540400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr12:64537400-64540800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr12:64537400-64541000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr12:64537400-64541000	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr12:64537400-64542800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:64537400-64544600	Weak transcription	Brain Hippocampus Middle	brain
43	chr12:64537600-64541000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:64537600-64541200	Weak transcription	Pancreas	Pancrea
45	chr12:64537600-64541200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr12:64537600-64543600	Weak transcription	Fetal Intestine Small	intestine
47	chr12:64537800-64541000	Weak transcription	Brain Germinal Matrix	brain
48	chr12:64537800-64541000	Weak transcription	Fetal Brain Male	brain
49	chr12:64537800-64541000	Weak transcription	Lung	lung
50	chr12:64537800-64541200	Weak transcription	Fetal Lung	lung

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