Variant report

Variant	rs17734907
Chromosome Location	chr12:29907141-29907142
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs60462583	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74082539	0.90[EUR][1000 genomes];1.00[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	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv898953	chr12:29905322-29989292	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29880000-29921200	Weak transcription	Fetal Kidney	kidney
2	chr12:29881600-29915800	Weak transcription	Brain Substantia Nigra	brain
3	chr12:29887400-29915600	Weak transcription	Brain Angular Gyrus	brain
4	chr12:29888800-29915600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:29890200-29915600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:29890600-29913000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:29894600-29907200	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:29895000-29910000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:29897200-29916000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:29898000-29910000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:29898200-29915800	Weak transcription	Liver	Liver
12	chr12:29898600-29921200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:29900400-29907200	Strong transcription	Adipose Nuclei	Adipose
14	chr12:29900600-29908400	Strong transcription	Fetal Muscle Leg	muscle
15	chr12:29901200-29907600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr12:29901200-29915800	Weak transcription	Brain Hippocampus Middle	brain
17	chr12:29901600-29911600	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr12:29902000-29908000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:29902600-29915800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr12:29903200-29911000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr12:29903600-29907200	Weak transcription	NHEK	skin
22	chr12:29903600-29915200	Weak transcription	Fetal Brain Female	brain
23	chr12:29903800-29915600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr12:29904200-29908200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr12:29904200-29916000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr12:29904200-29928600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:29904400-29907200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr12:29904400-29908600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr12:29904400-29915800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr12:29904400-29916800	Weak transcription	Gastric	stomach
31	chr12:29904600-29907200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr12:29904600-29907600	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr12:29904600-29927800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:29904800-29907200	Weak transcription	Hela-S3	cervix
35	chr12:29904800-29908000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:29904800-29908000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:29904800-29909600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:29904800-29911600	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr12:29904800-29915600	Weak transcription	Esophagus	oesophagus
40	chr12:29904800-29924200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr12:29905000-29915800	Weak transcription	Lung	lung
42	chr12:29905400-29908800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:29905600-29907200	Strong transcription	HMEC	breast
44	chr12:29905600-29907600	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr12:29905600-29909600	Weak transcription	NHLF	lung
46	chr12:29905600-29915600	Weak transcription	HSMMtube	muscle
47	chr12:29905800-29907400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr12:29905800-29907400	Strong transcription	Stomach Smooth Muscle	stomach
49	chr12:29905800-29909200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:29906000-29908800	Strong transcription	HUES64 Cell Line	embryonic stem cell

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