Variant report

Variant	rs11168368
Chromosome Location	chr12:48428395-48428396
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48426621..48428717-chr12:48430919..48432434,2	K562	blood:
2	chr12:48421744..48425259-chr12:48425932..48429243,5	MCF-7	breast:
3	chr12:48426470..48428398-chr12:48428806..48432334,3	MCF-7	breast:
4	chr12:48424222..48426815-chr12:48427012..48429829,3	K562	blood:
5	chr12:48421385..48423662-chr12:48427630..48429692,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10467100	1.00[EUR][1000 genomes]
rs11168264	1.00[EUR][1000 genomes]
rs11168288	1.00[EUR][1000 genomes]
rs11168290	1.00[EUR][1000 genomes]
rs11574002	1.00[EUR][1000 genomes]
rs11574060	1.00[EUR][1000 genomes]
rs11830088	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11830546	1.00[ASN][1000 genomes]
rs11833896	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835145	1.00[ASN][1000 genomes]
rs11835282	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835720	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11836542	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11838217	1.00[EUR][1000 genomes]
rs12297117	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122786	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1793947	1.00[EUR][1000 genomes]
rs34116679	1.00[EUR][1000 genomes]
rs34120080	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34698661	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35445616	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35725325	1.00[EUR][1000 genomes]
rs35902603	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41272745	1.00[EUR][1000 genomes]
rs41272751	1.00[EUR][1000 genomes]
rs41272757	1.00[EUR][1000 genomes]
rs41272761	1.00[EUR][1000 genomes]
rs56265470	1.00[EUR][1000 genomes]
rs57550917	1.00[EUR][1000 genomes]
rs57783574	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58279970	1.00[EUR][1000 genomes]
rs58373242	1.00[ASN][1000 genomes]
rs58573495	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59339937	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60556433	1.00[EUR][1000 genomes]
rs60894356	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7316602	1.00[EUR][1000 genomes]
rs73297147	1.00[EUR][1000 genomes]
rs73297150	1.00[EUR][1000 genomes]
rs73297159	1.00[EUR][1000 genomes]
rs74086446	1.00[EUR][1000 genomes]
rs74088715	1.00[EUR][1000 genomes]
rs74088779	1.00[EUR][1000 genomes]
rs7954412	1.00[EUR][1000 genomes]
rs7967673	1.00[EUR][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	nsv832401	chr12:48347453-48477999	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 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	chr12:48420400-48429000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:48422000-48429000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:48422800-48438800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:48423800-48430600	Weak transcription	Fetal Kidney	kidney
5	chr12:48423800-48430600	Weak transcription	Right Atrium	heart
6	chr12:48424000-48429000	Weak transcription	Fetal Lung	lung
7	chr12:48424200-48430000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:48424200-48430200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:48424400-48430600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:48424600-48429800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:48424800-48437400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr12:48425000-48431000	Weak transcription	Fetal Heart	heart
13	chr12:48425200-48431000	Weak transcription	Fetal Intestine Large	intestine
14	chr12:48425400-48429000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:48425400-48430800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:48425600-48429000	Weak transcription	HMEC	breast
17	chr12:48425600-48430600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr12:48426800-48428600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:48427000-48430600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:48427600-48429600	Enhancers	HepG2	liver
21	chr12:48427600-48435600	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr12:48428200-48428800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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