Variant report

Variant	rs12878981
Chromosome Location	chr14:67980031-67980032
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:67928363..67930468-chr14:67978414..67980438,2	MCF-7	breast:
2	chr14:67946481..67947300-chr14:67979982..67980806,3	MCF-7	breast:
3	chr14:67954053..67956925-chr14:67980005..67982672,2	MCF-7	breast:
4	chr14:67976445..67980059-chr14:67998803..68001828,3	K562	blood:

Variant related genes	Relation type
ENSG00000054690	Chromatin interaction
ENSG00000198133	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10130096	0.83[CEU][hapmap]
rs10133618	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10134444	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10143518	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10873204	0.81[ASN][1000 genomes]
rs11158675	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11158676	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11158677	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11158678	0.81[ASN][1000 genomes]
rs11621977	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11627207	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12878949	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12879556	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12887115	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];0.86[JPT][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1555397	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1555398	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1555399	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1980614	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2273596	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4899206	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4902477	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6573776	0.83[CHD][hapmap];0.86[JPT][hapmap]
rs7140327	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7140470	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7144333	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7144624	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7154258	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7155830	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7155911	0.95[GIH][hapmap];0.88[MEX][hapmap];0.80[TSI][hapmap];0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7156144	0.95[GIH][hapmap];0.88[MEX][hapmap];0.80[TSI][hapmap];0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7160654	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7160944	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7161368	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8019176	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8019974	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][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	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1320	chr14:67938724-67984157	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67956200-67981000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr14:67964200-67980800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr14:67965000-67980200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr14:67965200-67980200	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr14:67965400-67980800	Weak transcription	Primary T cells from cord blood	blood
6	chr14:67968800-67980400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr14:67970200-67980200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr14:67970200-67980800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr14:67970400-67980200	Weak transcription	Placenta	Placenta
10	chr14:67971000-67980600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr14:67975800-67981000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr14:67976400-67980200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:67976600-67980600	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr14:67976800-67980400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:67977600-67980400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr14:67977600-67980600	Weak transcription	Colon Smooth Muscle	Colon
17	chr14:67977600-67980800	Weak transcription	NHEK	skin
18	chr14:67977800-67980400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:67977800-67980400	Weak transcription	Brain Hippocampus Middle	brain
20	chr14:67977800-67980600	Weak transcription	Brain Anterior Caudate	brain
21	chr14:67977800-67980800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr14:67977800-67981000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:67977800-67981000	Weak transcription	HMEC	breast
24	chr14:67978000-67980600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:67978000-67981000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr14:67978200-67980200	Weak transcription	Brain Substantia Nigra	brain
27	chr14:67978200-67980800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr14:67978200-67981200	Weak transcription	Hela-S3	cervix
29	chr14:67978600-67980600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr14:67978600-67980800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr14:67978800-67980200	Enhancers	Fetal Intestine Large	intestine
32	chr14:67979000-67980200	Enhancers	Fetal Intestine Small	intestine
33	chr14:67979000-67981200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr14:67979200-67980800	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr14:67979200-67981000	Enhancers	Pancreas	Pancrea
36	chr14:67979400-67980400	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr14:67979400-67980800	Enhancers	Primary B cells from peripheral blood	blood
38	chr14:67979400-67981000	Enhancers	Primary B cells from cord blood	blood
39	chr14:67979400-67981000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr14:67979400-67981200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr14:67979400-67981400	Enhancers	Spleen	Spleen
42	chr14:67979400-67981400	Enhancers	GM12878-XiMat	blood
43	chr14:67979600-67980600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr14:67979600-67981200	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr14:67979800-67981200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr14:67979800-67982600	Enhancers	Fetal Brain Male	brain
47	chr14:67980000-67980400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr14:67980000-67980400	Enhancers	Brain Angular Gyrus	brain
49	chr14:67980000-67980600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr14:67980000-67980600	Enhancers	Fetal Brain Female	brain

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