Variant report

Variant	rs12886140
Chromosome Location	chr14:68203409-68203410
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68189219..68191314-chr14:68202180..68203720,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1007283	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12147055	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12147616	1.00[CEU][hapmap];0.84[JPT][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12879877	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12880440	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12881351	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12881994	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12882315	1.00[CEU][hapmap];0.84[JPT][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12882423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12882561	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12882897	1.00[CEU][hapmap];0.80[ASN][1000 genomes]
rs12884644	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12884764	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12884807	1.00[CEU][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12887092	1.00[CEU][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12888119	1.00[CEU][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12889011	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12889276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12889527	1.00[CEU][hapmap];0.84[JPT][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12890397	1.00[CEU][hapmap];0.81[JPT][hapmap];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12892919	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12893115	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12893900	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12893907	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12894707	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12895014	1.00[CEU][hapmap];0.81[JPT][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12895217	1.00[CEU][hapmap];0.81[JPT][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12898042	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17249649	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2273160	1.00[CEU][hapmap];0.84[JPT][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34970739	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3759762	1.00[CEU][hapmap];0.81[JPT][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8007557	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv521832	chr14:68141009-68204876	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1054697	chr14:68202004-68345982	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68189000-68218800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr14:68189800-68213400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr14:68196200-68219000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:68196800-68214600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr14:68197200-68214800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr14:68199400-68203800	Enhancers	Fetal Muscle Leg	muscle
7	chr14:68200600-68205600	Weak transcription	Placenta	Placenta
8	chr14:68201400-68205600	Weak transcription	HSMM	muscle
9	chr14:68201400-68213400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:68201400-68213600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr14:68201400-68214600	Weak transcription	Brain Substantia Nigra	brain
12	chr14:68201600-68213200	Weak transcription	Brain Angular Gyrus	brain
13	chr14:68201600-68214600	Weak transcription	Spleen	Spleen
14	chr14:68202000-68204600	Enhancers	Stomach Mucosa	stomach
15	chr14:68202200-68204000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr14:68202200-68205600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:68202200-68212800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr14:68202400-68212800	Weak transcription	Brain Hippocampus Middle	brain
19	chr14:68202800-68203600	Weak transcription	Gastric	stomach
20	chr14:68202800-68204000	Enhancers	Small Intestine	intestine
21	chr14:68202800-68205600	Weak transcription	Psoas Muscle	Psoas
22	chr14:68202800-68214000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr14:68202800-68215000	Weak transcription	Right Ventricle	heart
24	chr14:68202800-68230800	Weak transcription	Right Atrium	heart
25	chr14:68203000-68206000	Weak transcription	Adipose Nuclei	Adipose
26	chr14:68203000-68210400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr14:68203200-68203600	Weak transcription	HSMMtube	muscle
28	chr14:68203200-68205200	Enhancers	HepG2	liver
29	chr14:68203400-68204400	Enhancers	Pancreas	Pancrea
30	chr14:68203400-68205800	Enhancers	Rectal Mucosa Donor 31	rectum

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