Variant report

Variant	rs12317583
Chromosome Location	chr12:106376384-106376385
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:106376114..106377614-chr20:45984037..45986871,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000101040	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11112830	0.83[ASN][1000 genomes]
rs11112832	1.00[YRI][hapmap]
rs12299601	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12300964	0.83[ASN][1000 genomes]
rs57041357	1.00[AFR][1000 genomes]
rs59085653	0.83[ASN][1000 genomes]
rs73395222	0.83[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	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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106370200-106376600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:106370800-106376800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:106372000-106380800	Weak transcription	Osteobl	bone
4	chr12:106372000-106381600	Weak transcription	NHLF	lung
5	chr12:106372400-106377200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:106372600-106377000	Weak transcription	NH-A	brain
7	chr12:106373000-106376400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:106373000-106376800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr12:106373200-106381000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:106374600-106377600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:106375000-106376800	Enhancers	Adipose Nuclei	Adipose
12	chr12:106375000-106377600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:106375200-106376400	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr12:106375200-106376400	Weak transcription	Spleen	Spleen
15	chr12:106375200-106377600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr12:106375400-106377000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr12:106375600-106376400	Enhancers	Fetal Lung	lung
18	chr12:106375600-106378400	Enhancers	HSMM	muscle
19	chr12:106375600-106378800	Enhancers	HSMMtube	muscle
20	chr12:106375800-106376800	Enhancers	Ovary	ovary
21	chr12:106375800-106378400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:106376000-106376600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:106376000-106376600	Enhancers	Psoas Muscle	Psoas
24	chr12:106376000-106376600	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr12:106376000-106376800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:106376000-106377000	Enhancers	Right Ventricle	heart
27	chr12:106376000-106378400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:106376000-106378400	Enhancers	HMEC	breast
29	chr12:106376200-106376600	Enhancers	Left Ventricle	heart
30	chr12:106376200-106376800	Flanking Active TSS	Fetal Heart	heart
31	chr12:106376200-106377600	Weak transcription	Fetal Muscle Leg	muscle

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