Variant report

Variant	rs12299601
Chromosome Location	chr12:106377295-106377296
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:106346252..106348542-chr12:106377078..106379837,2	MCF-7	breast:
2	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]
rs12300964	0.83[ASN][1000 genomes]
rs12317583	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106372000-106380800	Weak transcription	Osteobl	bone
2	chr12:106372000-106381600	Weak transcription	NHLF	lung
3	chr12:106373200-106381000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:106374600-106377600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:106375000-106377600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:106375200-106377600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:106375600-106378400	Enhancers	HSMM	muscle
8	chr12:106375600-106378800	Enhancers	HSMMtube	muscle
9	chr12:106375800-106378400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:106376000-106378400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:106376000-106378400	Enhancers	HMEC	breast
12	chr12:106376200-106377600	Weak transcription	Fetal Muscle Leg	muscle
13	chr12:106376400-106377400	Weak transcription	Fetal Lung	lung
14	chr12:106376400-106378200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:106376400-106378200	Enhancers	NHEK	skin
16	chr12:106376400-106379200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr12:106376600-106377400	Enhancers	Placenta Amnion	Placenta Amnion
18	chr12:106376600-106381000	Weak transcription	Psoas Muscle	Psoas
19	chr12:106376800-106377400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:106376800-106378200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr12:106376800-106378200	Enhancers	Fetal Heart	heart
22	chr12:106377000-106378200	Enhancers	NH-A	brain
23	chr12:106377200-106377800	Enhancers	Ovary	ovary
24	chr12:106377200-106378000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:106377200-106378000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:106377200-106378000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:106377200-106378200	Enhancers	NHDF-Ad	bronchial

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