Variant report

Variant	rs12672211
Chromosome Location	chr7:104539082-104539083
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:104538120..104539744-chr7:104542402..104544424,2	K562	blood:
2	chr7:103865736..103867349-chr7:104538878..104541224,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs10216243	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs10226456	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10235696	1.00[CEU][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10236552	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10237433	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10238498	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10247246	0.86[CHB][hapmap]
rs10247944	0.92[ASN][1000 genomes]
rs10250365	0.86[CHB][hapmap]
rs10253341	0.81[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10256308	0.80[CHB][hapmap]
rs10257360	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10259925	0.86[CHB][hapmap]
rs10266362	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10273609	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10274240	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10280365	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10281485	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10953454	0.85[CHB][hapmap]
rs10953457	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12534673	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12535201	0.86[CHB][hapmap]
rs12537945	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12670275	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12705281	0.85[CHB][hapmap]
rs13225632	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1468813	0.86[CHB][hapmap]
rs17777379	0.86[CHB][hapmap]
rs17777439	0.86[CHB][hapmap]
rs2285533	1.00[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.97[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2465065	0.85[CHB][hapmap]
rs28478615	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28546781	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28587189	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34083033	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34171467	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35146170	0.85[CHB][hapmap]
rs35756879	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35894637	0.82[ASN][1000 genomes]
rs35988800	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6949139	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6963979	0.85[CHB][hapmap]
rs6968540	0.80[ASN][1000 genomes]
rs7779117	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7781864	0.85[CHB][hapmap]

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	nsv831086	chr7:104422503-104596766	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104524800-104540800	Weak transcription	Brain Anterior Caudate	brain
2	chr7:104525400-104540400	Weak transcription	Brain Substantia Nigra	brain
3	chr7:104527800-104539600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:104531400-104541800	Weak transcription	Pancreas	Pancrea
5	chr7:104531400-104542000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:104535000-104539800	Weak transcription	Brain Hippocampus Middle	brain
7	chr7:104535000-104557000	Weak transcription	Fetal Kidney	kidney
8	chr7:104535600-104542400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:104537200-104545200	Weak transcription	Fetal Intestine Large	intestine
10	chr7:104538000-104540400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr7:104538200-104539800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:104538200-104546600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr7:104538400-104539800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:104538400-104540600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:104539000-104539200	Enhancers	Small Intestine	intestine
16	chr7:104539000-104539600	Strong transcription	Fetal Intestine Small	intestine
17	chr7:104539000-104540000	Enhancers	GM12878-XiMat	blood

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