Variant report

Variant	rs8008961
Chromosome Location	chr14:68752643-68752644
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68750225..68753988-chr14:68760767..68763895,3	K562	blood:
2	chr14:68752563..68754193-chr14:69258627..69260664,2	MCF-7	breast:
3	chr14:68749358..68751013-chr14:68751341..68753019,2	MCF-7	breast:
4	chr14:68750460..68752816-chr14:68771764..68775094,3	MCF-7	breast:
5	chr14:68751000..68752773-chr14:68754092..68756821,3	MCF-7	breast:
6	chr14:68745338..68754336-chr14:69258355..69264353,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10131490	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12889206	0.90[GIH][hapmap]
rs17105278	0.95[CEU][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1885013	0.98[EUR][1000 genomes]
rs1950897	0.96[EUR][1000 genomes]
rs1957570	0.95[CEU][hapmap];0.85[GIH][hapmap];0.89[TSI][hapmap];0.90[EUR][1000 genomes]
rs2104047	0.98[EUR][1000 genomes]
rs2208397	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28498223	0.90[EUR][1000 genomes]
rs3784099	0.95[CEU][hapmap];0.88[GIH][hapmap];0.93[TSI][hapmap];0.98[EUR][1000 genomes]
rs6573834	0.90[GIH][hapmap]
rs7148416	0.95[CEU][hapmap];0.85[GIH][hapmap];0.86[TSI][hapmap];0.91[EUR][1000 genomes]
rs7148882	0.91[EUR][1000 genomes]
rs7150454	0.90[GIH][hapmap]
rs8015139	0.91[EUR][1000 genomes]
rs911263	1.00[CEU][hapmap];0.88[GIH][hapmap];0.95[TSI][hapmap];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv428628	chr14:68674504-68835127	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Acute urticaria and angioedema (non-steroidal anti-inflammatory drug-induced)	24236485	GWAS catalog

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68745600-68753400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr14:68746000-68752800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr14:68746000-68758600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr14:68746600-68764600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:68747000-68754000	Enhancers	Primary T cells fromperipheralblood	blood
6	chr14:68747000-68755200	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr14:68747200-68755200	Enhancers	Primary B cells from peripheral blood	blood
8	chr14:68747400-68754000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr14:68748200-68753600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
10	chr14:68748400-68755400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr14:68749000-68753400	Enhancers	Primary hematopoietic stem cells	blood
12	chr14:68749000-68753400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr14:68749000-68754000	Enhancers	Fetal Thymus	thymus
14	chr14:68749200-68753000	Flanking Active TSS	GM12878-XiMat	blood
15	chr14:68749200-68753800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr14:68749400-68753000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr14:68749400-68753000	Enhancers	Colon Smooth Muscle	Colon
18	chr14:68749400-68753600	Enhancers	Dnd41	blood
19	chr14:68750200-68753000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr14:68750200-68754000	Enhancers	Thymus	Thymus
21	chr14:68750200-68755400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr14:68750400-68755400	Enhancers	Primary B cells from cord blood	blood
23	chr14:68750400-68758400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr14:68750400-68761200	Weak transcription	Pancreas	Pancrea
25	chr14:68750600-68752800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr14:68750600-68756200	Weak transcription	Small Intestine	intestine
27	chr14:68750600-68758000	Weak transcription	Lung	lung
28	chr14:68750600-68758400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr14:68750600-68758600	Weak transcription	Psoas Muscle	Psoas
30	chr14:68750600-68759600	Weak transcription	Brain Hippocampus Middle	brain
31	chr14:68750800-68755200	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr14:68750800-68756600	Weak transcription	Fetal Intestine Small	intestine
33	chr14:68750800-68758200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr14:68750800-68761800	Weak transcription	Left Ventricle	heart
35	chr14:68751400-68758200	Weak transcription	HepG2	liver
36	chr14:68751600-68752800	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr14:68751600-68753200	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr14:68751600-68756600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr14:68751800-68752800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr14:68751800-68758600	Weak transcription	Right Atrium	heart
41	chr14:68752000-68752800	Enhancers	NHDF-Ad	bronchial
42	chr14:68752000-68753000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr14:68752000-68753200	Enhancers	K562	blood
44	chr14:68752000-68754200	Enhancers	HSMM	muscle
45	chr14:68752000-68756400	Weak transcription	Fetal Intestine Large	intestine
46	chr14:68752000-68757600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr14:68752200-68753000	Enhancers	Osteobl	bone
48	chr14:68752200-68753600	Enhancers	HSMMtube	muscle
49	chr14:68752200-68754600	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr14:68752200-68755200	Enhancers	Primary T cells from cord blood	blood

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