Variant report

Variant	rs12882030
Chromosome Location	chr14:69005283-69005284
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:69003922..69007873-chr14:69256897..69260047,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10134446	0.81[CHB][hapmap]
rs10135398	0.80[AMR][1000 genomes]
rs1023530	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11158749	0.82[CHB][hapmap]
rs11158750	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12586230	0.81[CEU][hapmap]
rs17105837	1.00[CEU][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2189517	0.81[CHB][hapmap]
rs2842333	0.91[CEU][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7140266	0.82[CHB][hapmap]
rs877506	1.00[CEU][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs9323513	0.82[CHB][hapmap]
rs9323514	0.84[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1048064	chr14:68991041-69012766	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68996200-69007800	Weak transcription	Stomach Mucosa	stomach
2	chr14:69002400-69016600	Weak transcription	Gastric	stomach
3	chr14:69002600-69006600	Weak transcription	Ovary	ovary
4	chr14:69002800-69005600	Weak transcription	A549	lung
5	chr14:69002800-69006000	Weak transcription	Esophagus	oesophagus
6	chr14:69002800-69006000	Weak transcription	Placenta	Placenta
7	chr14:69002800-69006200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:69003000-69005400	Weak transcription	Fetal Intestine Small	intestine
9	chr14:69003000-69006200	Weak transcription	HSMMtube	muscle
10	chr14:69003000-69006400	Weak transcription	HSMM	muscle
11	chr14:69003000-69007800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr14:69003000-69007800	Weak transcription	Hela-S3	cervix
13	chr14:69003000-69008000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr14:69003000-69009000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr14:69003200-69005400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr14:69003200-69005800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr14:69003200-69006000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr14:69003200-69009000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr14:69003400-69006000	Weak transcription	NHDF-Ad	bronchial
20	chr14:69003400-69006000	Weak transcription	NHLF	lung
21	chr14:69003600-69007800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:69003600-69008000	Weak transcription	HMEC	breast
23	chr14:69003600-69009000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr14:69003600-69009000	Weak transcription	NHEK	skin
25	chr14:69004400-69005600	Weak transcription	Adipose Nuclei	Adipose
26	chr14:69004400-69008600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:69004600-69006800	Enhancers	Rectal Smooth Muscle	rectum
28	chr14:69004600-69008400	Enhancers	Brain Germinal Matrix	brain
29	chr14:69004600-69009800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr14:69004600-69010600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:69004800-69006800	Enhancers	Fetal Muscle Trunk	muscle
32	chr14:69004800-69006800	Enhancers	Spleen	Spleen
33	chr14:69004800-69007000	Enhancers	Left Ventricle	heart
34	chr14:69004800-69007000	Enhancers	Stomach Smooth Muscle	stomach
35	chr14:69004800-69007400	Enhancers	Psoas Muscle	Psoas
36	chr14:69004800-69008200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr14:69004800-69008600	Enhancers	Fetal Muscle Leg	muscle
38	chr14:69005000-69005600	Enhancers	Fetal Thymus	thymus
39	chr14:69005000-69007800	Enhancers	Brain Anterior Caudate	brain
40	chr14:69005000-69008400	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr14:69005000-69008800	Enhancers	Colon Smooth Muscle	Colon
42	chr14:69005000-69008800	Enhancers	Fetal Stomach	stomach
43	chr14:69005000-69010400	Weak transcription	Pancreas	Pancrea
44	chr14:69005000-69013400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr14:69005000-69015000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr14:69005200-69005400	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr14:69005200-69006600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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