Variant report

Variant	rs10512060
Chromosome Location	chr9:79306574-79306575
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12339310	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12346312	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17180718	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes]
rs17180920	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17180962	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap]
rs17786994	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs28566501	0.90[EUR][1000 genomes]
rs56919429	0.95[ASN][1000 genomes]
rs7029812	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

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	nsv869152	chr9:78742197-79583399	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv931033	chr9:78850330-79366454	Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1040363	chr9:79246366-79711737	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv893481	chr9:79304043-79348193	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 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	chr9:79266400-79306800	Weak transcription	Fetal Stomach	stomach
2	chr9:79300400-79332200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr9:79302600-79306600	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr9:79302600-79306800	Enhancers	Fetal Intestine Large	intestine
5	chr9:79302600-79306800	Enhancers	Fetal Intestine Small	intestine
6	chr9:79302800-79306600	Weak transcription	Adipose Nuclei	Adipose
7	chr9:79303000-79306600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr9:79303400-79306800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:79303800-79306800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:79304000-79306800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr9:79304200-79306600	Weak transcription	Brain Substantia Nigra	brain
12	chr9:79304200-79306600	Weak transcription	NHDF-Ad	bronchial
13	chr9:79304200-79306600	Weak transcription	Osteobl	bone
14	chr9:79304200-79306800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr9:79304200-79306800	Weak transcription	HMEC	breast
16	chr9:79304200-79307800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr9:79304400-79306600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr9:79304400-79306600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr9:79304800-79306600	Enhancers	Duodenum Mucosa	Duodenum
20	chr9:79305000-79306600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
21	chr9:79305000-79306600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr9:79305000-79306800	Enhancers	Fetal Lung	lung
23	chr9:79305000-79307600	Weak transcription	Aorta	Aorta
24	chr9:79305200-79306600	Active TSS	Brain Anterior Caudate	brain
25	chr9:79305200-79306600	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr9:79305200-79306800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
27	chr9:79305200-79306800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr9:79305200-79307200	Enhancers	Colon Smooth Muscle	Colon
29	chr9:79305200-79307600	Enhancers	Stomach Mucosa	stomach
30	chr9:79305400-79306600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr9:79305400-79306800	Enhancers	Small Intestine	intestine
32	chr9:79305600-79306800	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr9:79305600-79306800	Genic enhancers	HSMM	muscle
34	chr9:79305800-79306600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr9:79305800-79306600	Enhancers	Brain Germinal Matrix	brain
36	chr9:79305800-79306800	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr9:79306000-79306600	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr9:79306000-79306600	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr9:79306000-79306600	Active TSS	Brain Hippocampus Middle	brain
40	chr9:79306000-79306600	Enhancers	Fetal Muscle Trunk	muscle
41	chr9:79306000-79306600	Enhancers	HUVEC	blood vessel
42	chr9:79306000-79306800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr9:79306000-79306800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr9:79306000-79306800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr9:79306000-79307200	Active TSS	Brain Angular Gyrus	brain
46	chr9:79306000-79307200	Enhancers	Lung	lung
47	chr9:79306000-79307600	Active TSS	Fetal Brain Female	brain
48	chr9:79306000-79307800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr9:79306000-79307800	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr9:79306000-79307800	Enhancers	Sigmoid Colon	Sigmoid Colon

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