Variant report

Variant	rs12884427
Chromosome Location	chr14:35090253-35090254
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35089053..35090728-chr14:35092071..35094626,3	MCF-7	breast:
2	chr14:35089242..35092550-chr14:35095898..35099588,3	K562	blood:
3	chr14:35087443..35090750-chr14:35097026..35100574,3	MCF-7	breast:
4	chr14:35089260..35092373-chr14:35092594..35095994,3	MCF-7	breast:
5	chr14:35087584..35096037-chr14:35096409..35100819,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129515	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11156849	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12435717	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12586808	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12590540	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12878227	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12884997	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12885352	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12890311	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12895640	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13826	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17524152	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28515732	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34068551	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34479175	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34602534	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs34814201	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34978749	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35194168	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35257621	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35415402	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4628872	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58688462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60412145	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61316540	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61979715	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61979723	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6650487	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6650497	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67170227	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71419996	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7146042	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73236276	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040980	chr14:34345018-35255592	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv1048408	chr14:34958352-35255592	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1040303	chr14:35040853-35101044	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv542027	chr14:35040853-35101044	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1038360	chr14:35040853-35152886	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	esv3408652	chr14:35069966-35110821	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv523334	chr14:35075022-35131862	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv1041857	chr14:35084889-35417180	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35054600-35098400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:35060800-35097800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr14:35063000-35098400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:35068400-35098000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr14:35070200-35091800	Weak transcription	Psoas Muscle	Psoas
6	chr14:35070400-35098600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:35073400-35091800	Weak transcription	Fetal Brain Male	brain
8	chr14:35073600-35097800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr14:35074000-35090400	Weak transcription	Fetal Kidney	kidney
10	chr14:35074200-35091800	Weak transcription	K562	blood
11	chr14:35075000-35090400	Weak transcription	Hela-S3	cervix
12	chr14:35076600-35098000	Weak transcription	HSMMtube	muscle
13	chr14:35077000-35091800	Weak transcription	Brain Anterior Caudate	brain
14	chr14:35077000-35093400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:35077000-35097600	Weak transcription	Esophagus	oesophagus
16	chr14:35077000-35098600	Weak transcription	Pancreas	Pancrea
17	chr14:35077600-35090600	Weak transcription	Brain Substantia Nigra	brain
18	chr14:35077600-35091800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr14:35077600-35091800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr14:35077600-35092200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr14:35077600-35097800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr14:35077600-35098000	Weak transcription	Aorta	Aorta
23	chr14:35077600-35098200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr14:35077600-35098600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr14:35078000-35091800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr14:35078000-35091800	Weak transcription	Brain Angular Gyrus	brain
27	chr14:35078000-35092200	Weak transcription	Small Intestine	intestine
28	chr14:35078000-35098000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr14:35078000-35098000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr14:35078000-35098200	Weak transcription	Ovary	ovary
31	chr14:35078200-35098600	Weak transcription	Gastric	stomach
32	chr14:35078400-35092200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr14:35079400-35090400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr14:35079400-35097800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr14:35080200-35092400	Strong transcription	Fetal Stomach	stomach
36	chr14:35081200-35090400	Strong transcription	Osteobl	bone
37	chr14:35081200-35095200	Strong transcription	Fetal Muscle Leg	muscle
38	chr14:35081200-35097000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr14:35081400-35091000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr14:35081600-35093800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr14:35082200-35091800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr14:35082200-35094400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr14:35082600-35090400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr14:35082600-35091800	Weak transcription	Liver	Liver
45	chr14:35083600-35091800	Weak transcription	Fetal Brain Female	brain
46	chr14:35083800-35092000	Weak transcription	Brain Germinal Matrix	brain
47	chr14:35084200-35090400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr14:35084600-35092600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr14:35085000-35090400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr14:35085000-35090400	Weak transcription	NHLF	lung

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