Variant report

Variant	rs7314058
Chromosome Location	chr12:29812197-29812198
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10734775	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12423951	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2033026	0.86[AMR][1000 genomes];0.81[EUR][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	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
3	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
4	nsv870004	chr12:29762415-29825798	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv983298	chr12:29810275-29812743	Weak transcription Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29778400-29826000	Weak transcription	Fetal Kidney	kidney
2	chr12:29785400-29816000	Weak transcription	Esophagus	oesophagus
3	chr12:29792000-29820800	Weak transcription	Spleen	Spleen
4	chr12:29793400-29826200	Weak transcription	NHLF	lung
5	chr12:29793600-29815600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr12:29794000-29820000	Weak transcription	Brain Anterior Caudate	brain
7	chr12:29794200-29814800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:29794200-29815600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:29794200-29815800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr12:29794200-29825600	Weak transcription	Fetal Stomach	stomach
11	chr12:29794200-29825600	Weak transcription	HMEC	breast
12	chr12:29794400-29815600	Weak transcription	Colon Smooth Muscle	Colon
13	chr12:29794400-29819800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:29794400-29831800	Weak transcription	Ovary	ovary
15	chr12:29794800-29825600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr12:29794800-29829400	Weak transcription	Hela-S3	cervix
17	chr12:29803600-29824600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:29803800-29813800	Weak transcription	Psoas Muscle	Psoas
19	chr12:29804800-29813000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:29805400-29814600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:29805600-29824600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:29805800-29812200	Weak transcription	Left Ventricle	heart
23	chr12:29806600-29821000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:29806800-29812200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr12:29806800-29829200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:29807600-29814400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:29807600-29819600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:29809200-29812200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:29809200-29814800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr12:29809200-29815600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr12:29809200-29815600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr12:29809200-29816000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr12:29809600-29814000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr12:29810200-29815800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr12:29810200-29825400	Weak transcription	HSMMtube	muscle
36	chr12:29810400-29825200	Weak transcription	Fetal Muscle Leg	muscle
37	chr12:29811000-29813800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr12:29811000-29814200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:29811000-29825200	Weak transcription	Fetal Heart	heart
40	chr12:29811200-29815800	Weak transcription	Liver	Liver
41	chr12:29811400-29813400	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr12:29811400-29813400	Strong transcription	HSMM	muscle
43	chr12:29811400-29813600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:29811600-29813600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:29811600-29814000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr12:29811800-29813600	Strong transcription	Adipose Nuclei	Adipose
47	chr12:29812000-29815600	Weak transcription	Aorta	Aorta

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