Variant report

Variant	rs744347
Chromosome Location	chr12:106424952-106424953
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	chr12:106424440..106427455-chr12:106530238..106534558,3	MCF-7	breast:
2	chr12:106424925..106427574-chr12:106428268..106430094,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000074590	Chromatin interaction

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[TSI][hapmap];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[EUR][1000 genomes]
rs17037993	1.00[EUR][1000 genomes]
rs17038001	1.00[EUR][1000 genomes]
rs17038024	1.00[EUR][1000 genomes]
rs34404995	1.00[EUR][1000 genomes]
rs41513347	1.00[EUR][1000 genomes]
rs6539236	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7135356	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7298805	1.00[EUR][1000 genomes]
rs7299337	1.00[EUR][1000 genomes]
rs7312705	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[TSI][hapmap];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	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
2	nsv871	chr12:106407516-106429806	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106415800-106456400	Weak transcription	Aorta	Aorta
2	chr12:106421400-106427000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:106421800-106436000	Weak transcription	Fetal Brain Male	brain
4	chr12:106422800-106427600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:106423000-106427400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:106423600-106425200	Flanking Active TSS	A549	lung
7	chr12:106423800-106425000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr12:106424000-106425000	Flanking Active TSS	Hela-S3	cervix
9	chr12:106424000-106425000	Flanking Active TSS	HUVEC	blood vessel
10	chr12:106424000-106425200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr12:106424000-106425200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr12:106424000-106425200	Flanking Active TSS	NH-A	brain
13	chr12:106424000-106425200	Enhancers	NHDF-Ad	bronchial
14	chr12:106424000-106425200	Enhancers	NHLF	lung
15	chr12:106424000-106427600	Enhancers	Placenta	Placenta
16	chr12:106424200-106425000	Enhancers	Fetal Lung	lung
17	chr12:106424200-106425200	Enhancers	Fetal Stomach	stomach
18	chr12:106424200-106425200	Flanking Active TSS	Osteobl	bone
19	chr12:106424400-106425000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr12:106424400-106425000	Enhancers	Fetal Heart	heart
21	chr12:106424400-106425200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr12:106424400-106425200	Flanking Active TSS	HSMMtube	muscle
23	chr12:106424400-106426000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr12:106424400-106427000	Weak transcription	Liver	Liver
25	chr12:106424600-106425000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:106424600-106425000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:106424600-106425000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:106424800-106425200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:106424800-106425200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:106424800-106425600	Weak transcription	Left Ventricle	heart
31	chr12:106424800-106426600	Enhancers	NHEK	skin
32	chr12:106424800-106427400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:106424800-106427600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:106424800-106427600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:106424800-106428200	Enhancers	HSMM	muscle
36	chr12:106424800-106428400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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