Variant report

Variant	rs10134444
Chromosome Location	chr14:67978903-67978904
allele	C/T
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	chr14:67976992..67979200-chr14:67989506..67991130,2	MCF-7	breast:
3	chr14:67976445..67980059-chr14:67998803..68001828,3	K562	blood:

Variant related genes	Relation type
ENSG00000054690	Chromatin interaction
ENSG00000198133	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10133618	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10143518	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11158675	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11158677	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11621977	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11627207	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12878949	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12878981	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12879556	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12887115	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1555397	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1555398	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1555399	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1980614	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2273596	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4899206	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4902477	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7140327	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7140470	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7144333	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7144624	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7154258	0.81[AMR][1000 genomes]
rs7155830	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7160654	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7160944	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7161368	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8019176	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8019974	0.84[AMR][1000 genomes];0.90[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	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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67956200-67981000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr14:67959400-67979800	Weak transcription	Fetal Brain Male	brain
3	chr14:67961400-67979400	Weak transcription	Primary B cells from cord blood	blood
4	chr14:67961400-67979400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr14:67961600-67979400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr14:67962800-67979200	Weak transcription	Pancreas	Pancrea
7	chr14:67964200-67980800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr14:67965000-67979400	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr14:67965000-67980200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr14:67965200-67980200	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr14:67965400-67980800	Weak transcription	Primary T cells from cord blood	blood
12	chr14:67968800-67980400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr14:67970200-67980200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr14:67970200-67980800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr14:67970400-67980200	Weak transcription	Placenta	Placenta
16	chr14:67971000-67980600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr14:67975800-67979000	Weak transcription	Fetal Intestine Small	intestine
18	chr14:67975800-67979400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr14:67975800-67981000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr14:67976000-67979400	Weak transcription	GM12878-XiMat	blood
21	chr14:67976400-67979200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr14:67976400-67979200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr14:67976400-67980200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:67976600-67980600	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr14:67976800-67980400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr14:67977200-67979400	Weak transcription	Spleen	Spleen
27	chr14:67977600-67980400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr14:67977600-67980600	Weak transcription	Colon Smooth Muscle	Colon
29	chr14:67977600-67980800	Weak transcription	NHEK	skin
30	chr14:67977800-67980400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr14:67977800-67980400	Weak transcription	Brain Hippocampus Middle	brain
32	chr14:67977800-67980600	Weak transcription	Brain Anterior Caudate	brain
33	chr14:67977800-67980800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr14:67977800-67981000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr14:67977800-67981000	Weak transcription	HMEC	breast
36	chr14:67978000-67979400	Weak transcription	Brain Angular Gyrus	brain
37	chr14:67978000-67980600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr14:67978000-67981000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr14:67978200-67980200	Weak transcription	Brain Substantia Nigra	brain
40	chr14:67978200-67980800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr14:67978200-67981200	Weak transcription	Hela-S3	cervix
42	chr14:67978600-67979600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr14:67978600-67980600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr14:67978600-67980800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr14:67978800-67980200	Enhancers	Fetal Intestine Large	intestine

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