Variant report

Variant	rs10160943
Chromosome Location	chr12:29724113-29724114
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11050279	1.00[AMR][1000 genomes]
rs11050282	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11050309	1.00[AMR][1000 genomes]
rs12307107	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12307164	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12314860	1.00[AMR][1000 genomes]
rs16934418	0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs57121177	1.00[AMR][1000 genomes]
rs7132003	1.00[AMR][1000 genomes]
rs73263832	1.00[AMR][1000 genomes]
rs7963041	1.00[AMR][1000 genomes]
rs7977364	0.80[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv469190	chr12:29612425-29811471	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv557917	chr12:29612425-29811471	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1053629	chr12:29680163-29826626	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29665400-29725400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr12:29700400-29734000	Weak transcription	Brain Anterior Caudate	brain
3	chr12:29709800-29756200	Weak transcription	HMEC	breast
4	chr12:29712600-29734600	Weak transcription	Liver	Liver
5	chr12:29713200-29726400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr12:29713200-29726600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:29713200-29731200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:29713200-29742600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:29715400-29731200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:29715800-29724800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:29716200-29764800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:29717600-29725000	Weak transcription	Aorta	Aorta
13	chr12:29717600-29727400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr12:29717600-29727800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr12:29717600-29734800	Weak transcription	NHLF	lung
16	chr12:29717600-29736400	Weak transcription	Psoas Muscle	Psoas
17	chr12:29717800-29732200	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:29718200-29725400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr12:29718600-29727600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:29719600-29724600	Weak transcription	Right Ventricle	heart
21	chr12:29719600-29724600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr12:29719800-29724800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr12:29720000-29724200	Weak transcription	Left Ventricle	heart
24	chr12:29720000-29731400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr12:29720000-29731800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:29720200-29724200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:29720200-29724200	Weak transcription	Spleen	Spleen
28	chr12:29720200-29724400	Weak transcription	Fetal Muscle Leg	muscle
29	chr12:29720200-29728600	Weak transcription	Gastric	stomach
30	chr12:29720200-29735000	Weak transcription	NHDF-Ad	bronchial
31	chr12:29720200-29735800	Weak transcription	Fetal Muscle Trunk	muscle
32	chr12:29720200-29743600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr12:29721800-29726200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:29722000-29725400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:29722400-29724800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr12:29722400-29725600	Weak transcription	Fetal Brain Female	brain
37	chr12:29722400-29730200	Weak transcription	Adipose Nuclei	Adipose
38	chr12:29722400-29733600	Weak transcription	Ovary	ovary
39	chr12:29722400-29735400	Weak transcription	HSMMtube	muscle
40	chr12:29722600-29724400	Weak transcription	Hela-S3	cervix
41	chr12:29722600-29726200	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr12:29722600-29735200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr12:29722600-29736400	Weak transcription	Fetal Stomach	stomach
44	chr12:29722800-29735400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:29722800-29735800	Weak transcription	Fetal Kidney	kidney
46	chr12:29723000-29735200	Weak transcription	HSMM	muscle
47	chr12:29723200-29730200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr12:29723400-29724200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr12:29723400-29729200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:29724000-29724600	Enhancers	Fetal Heart	heart

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