Variant report

Variant	rs12411194
Chromosome Location	chr1:210556360-210556361
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:210550399..210552265-chr1:210555579..210558136,2	MCF-7	breast:
2	chr1:210550122..210554367-chr1:210555411..210560476,4	K562	blood:
3	chr1:210554011..210556894-chr1:210560022..210561552,2	MCF-7	breast:
4	chr1:210554692..210557486-chr1:210561953..210564729,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1033492	0.86[EUR][1000 genomes]
rs11119483	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12070523	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs12082200	0.91[ASN][1000 genomes]
rs12085633	0.82[CEU][hapmap];0.86[EUR][1000 genomes]
rs12143445	0.85[ASN][1000 genomes]
rs17016036	0.89[CEU][hapmap];0.84[CHB][hapmap];0.92[JPT][hapmap];0.80[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17016068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4844521	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4845007	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4845008	0.85[ASN][1000 genomes]
rs4845009	0.85[ASN][1000 genomes]
rs4845012	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55704833	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56381238	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72745442	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72745456	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8769	chr1:210403509-210564588	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210529600-210586000	Weak transcription	Pancreas	Pancrea
2	chr1:210536800-210558800	Weak transcription	Fetal Stomach	stomach
3	chr1:210538400-210565600	Weak transcription	Esophagus	oesophagus
4	chr1:210543200-210565200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:210546600-210566200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:210548600-210566400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:210550200-210557600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:210551200-210566600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:210551400-210557600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:210551400-210586000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr1:210552400-210557800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:210552600-210557600	Weak transcription	Osteobl	bone
13	chr1:210552600-210557800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:210552800-210557600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:210552800-210557800	Weak transcription	NHDF-Ad	bronchial
16	chr1:210553000-210557200	Weak transcription	NH-A	brain
17	chr1:210553000-210557400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:210553000-210557600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr1:210553000-210557600	Weak transcription	NHLF	lung
20	chr1:210553400-210557600	Weak transcription	HSMM	muscle
21	chr1:210556000-210556600	Enhancers	HepG2	liver
22	chr1:210556000-210557600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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