Variant report

Variant	rs7312705
Chromosome Location	chr12:106374785-106374786
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10507205	1.00[EUR][1000 genomes]
rs11112802	1.00[EUR][1000 genomes]
rs11112811	1.00[EUR][1000 genomes]
rs12301159	1.00[EUR][1000 genomes]
rs12311347	1.00[EUR][1000 genomes]
rs12314342	1.00[EUR][1000 genomes]
rs13378063	1.00[EUR][1000 genomes]
rs1421450	1.00[EUR][1000 genomes]
rs17037848	1.00[EUR][1000 genomes]
rs17037959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17037993	1.00[EUR][1000 genomes]
rs17038001	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17038024	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34404995	1.00[EUR][1000 genomes]
rs41513347	1.00[EUR][1000 genomes]
rs6539236	1.00[EUR][1000 genomes]
rs7135356	1.00[EUR][1000 genomes]
rs7298805	1.00[EUR][1000 genomes]
rs7299337	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73391203	1.00[EUR][1000 genomes]
rs73391208	1.00[EUR][1000 genomes]
rs73391222	1.00[EUR][1000 genomes]
rs744346	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs744347	1.00[EUR][1000 genomes]
rs7968919	1.00[EUR][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	nsv832508	chr12:106198797-106409112	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv832509	chr12:106363888-106516221	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106356000-106376000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:106370200-106376600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:106370800-106376800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:106372000-106375800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:106372000-106380800	Weak transcription	Osteobl	bone
6	chr12:106372000-106381600	Weak transcription	NHLF	lung
7	chr12:106372400-106377200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:106372600-106377000	Weak transcription	NH-A	brain
9	chr12:106373000-106375400	Enhancers	Fetal Heart	heart
10	chr12:106373000-106376000	Weak transcription	HMEC	breast
11	chr12:106373000-106376400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:106373000-106376800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr12:106373200-106375600	Weak transcription	HSMM	muscle
14	chr12:106373200-106381000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:106373600-106374800	Enhancers	Left Ventricle	heart
16	chr12:106373600-106376000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:106373800-106374800	Enhancers	Brain Germinal Matrix	brain
18	chr12:106373800-106375000	Enhancers	Fetal Muscle Trunk	muscle
19	chr12:106374000-106374800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:106374200-106374800	Enhancers	Right Ventricle	heart
21	chr12:106374200-106375000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:106374400-106374800	Enhancers	Right Atrium	heart
23	chr12:106374400-106375000	Enhancers	H1 Cell Line	embryonic stem cell
24	chr12:106374400-106375000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:106374400-106375000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:106374400-106375000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:106374400-106375000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr12:106374400-106375200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr12:106374400-106375200	Enhancers	Spleen	Spleen
30	chr12:106374600-106375000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr12:106374600-106375200	Enhancers	H9 Cell Line	embryonic stem cell
32	chr12:106374600-106375200	Genic enhancers	HSMMtube	muscle
33	chr12:106374600-106375600	Weak transcription	Fetal Lung	lung
34	chr12:106374600-106376000	Weak transcription	Psoas Muscle	Psoas
35	chr12:106374600-106377600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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