Variant report

Variant	rs73288681
Chromosome Location	chr14:67977317-67977318
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:67976992..67979200-chr14:67989506..67991130,2	MCF-7	breast:
2	chr14:67973423..67975623-chr14:67977106..67978835,2	MCF-7	breast:
3	chr14:67976445..67980059-chr14:67998803..68001828,3	K562	blood:

Variant related genes	Relation type
ENSG00000198133	Chromatin interaction
ENSG00000054690	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs58859738	1.00[AFR][1000 genomes]
rs61628803	1.00[AFR][1000 genomes]
rs7156024	1.00[AFR][1000 genomes]
rs73272303	1.00[AFR][1000 genomes]
rs73272305	0.81[AFR][1000 genomes]
rs73272306	0.81[AFR][1000 genomes]
rs73288659	1.00[AFR][1000 genomes]
rs73288667	1.00[AFR][1000 genomes]
rs73288671	1.00[AFR][1000 genomes]
rs73288672	0.90[AFR][1000 genomes]
rs73288679	1.00[AFR][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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67956000-67978000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr14:67956200-67981000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr14:67959400-67979800	Weak transcription	Fetal Brain Male	brain
4	chr14:67961400-67979400	Weak transcription	Primary B cells from cord blood	blood
5	chr14:67961400-67979400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr14:67961600-67979400	Weak transcription	Primary B cells from peripheral blood	blood
7	chr14:67962800-67979200	Weak transcription	Pancreas	Pancrea
8	chr14:67964200-67980800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr14:67965000-67979400	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr14:67965000-67980200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr14:67965200-67980200	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr14:67965400-67980800	Weak transcription	Primary T cells from cord blood	blood
13	chr14:67968800-67980400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr14:67970200-67980200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr14:67970200-67980800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr14:67970400-67980200	Weak transcription	Placenta	Placenta
17	chr14:67971000-67980600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr14:67975800-67978800	Weak transcription	Fetal Intestine Large	intestine
19	chr14:67975800-67979000	Weak transcription	Fetal Intestine Small	intestine
20	chr14:67975800-67979400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:67975800-67981000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr14:67976000-67979400	Weak transcription	GM12878-XiMat	blood
23	chr14:67976400-67979200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr14:67976400-67979200	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr14:67976400-67980200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr14:67976600-67980600	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr14:67976800-67977800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr14:67976800-67977800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr14:67976800-67977800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:67976800-67977800	Enhancers	Brain Anterior Caudate	brain
31	chr14:67976800-67978200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr14:67976800-67978200	Enhancers	NHDF-Ad	bronchial
33	chr14:67976800-67978600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr14:67976800-67980400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr14:67977000-67977600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:67977000-67977600	Enhancers	Brain Cingulate Gyrus	brain
37	chr14:67977000-67977600	Enhancers	NHEK	skin
38	chr14:67977000-67977800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr14:67977000-67977800	Enhancers	Brain Hippocampus Middle	brain
40	chr14:67977000-67977800	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr14:67977000-67977800	Enhancers	HMEC	breast
42	chr14:67977000-67978000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr14:67977000-67978000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr14:67977000-67978000	Enhancers	Osteobl	bone
45	chr14:67977000-67978200	Enhancers	Brain Substantia Nigra	brain
46	chr14:67977000-67978600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr14:67977200-67977400	Enhancers	Colon Smooth Muscle	Colon
48	chr14:67977200-67978000	Enhancers	Brain Angular Gyrus	brain
49	chr14:67977200-67979400	Weak transcription	Spleen	Spleen

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