Variant report

Variant	rs975422
Chromosome Location	chr14:68848643-68848644
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	chr14:68846943..68849036-chr14:68850904..68853238,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10132981	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10454686	0.94[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11158737	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11158742	1.00[JPT][hapmap]
rs12435006	1.00[JPT][hapmap]
rs12588330	1.00[JPT][hapmap]
rs12589872	0.84[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12897307	1.00[JPT][hapmap]
rs17755674	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1956538	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1964854	0.94[EUR][1000 genomes]
rs2064910	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2331703	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs2331704	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2525507	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs2753403	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2842320	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs2877475	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3784118	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3966077	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4899241	1.00[JPT][hapmap]
rs4899243	1.00[JPT][hapmap]
rs4902571	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4902578	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4902580	1.00[JPT][hapmap]
rs4902581	1.00[JPT][hapmap]
rs4902587	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4902588	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4902589	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7145422	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8003606	1.00[CHB][hapmap]
rs8013026	0.94[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8013184	0.85[ASN][1000 genomes]
rs8015516	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs8019592	1.00[JPT][hapmap]
rs9323510	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68832000-68851600	Weak transcription	Lung	lung
2	chr14:68839800-68850600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr14:68842400-68850400	Weak transcription	Pancreas	Pancrea
4	chr14:68843400-68850000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr14:68843600-68850600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr14:68844000-68850000	Weak transcription	Right Ventricle	heart
7	chr14:68844200-68848800	Weak transcription	Psoas Muscle	Psoas
8	chr14:68844400-68850000	Weak transcription	Right Atrium	heart
9	chr14:68844600-68850000	Weak transcription	Fetal Thymus	thymus
10	chr14:68844600-68850000	Weak transcription	Left Ventricle	heart
11	chr14:68844600-68850000	Weak transcription	Ovary	ovary
12	chr14:68844600-68850000	Weak transcription	Small Intestine	intestine
13	chr14:68844600-68850600	Weak transcription	A549	lung
14	chr14:68844600-68851000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr14:68844600-68851000	Weak transcription	NHLF	lung
16	chr14:68844600-68851200	Weak transcription	Spleen	Spleen
17	chr14:68844600-68851400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr14:68844600-68858000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr14:68844600-68859200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:68844800-68850400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr14:68844800-68853000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr14:68845000-68850200	Weak transcription	Fetal Kidney	kidney
23	chr14:68845000-68850200	Weak transcription	HepG2	liver
24	chr14:68845000-68850400	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr14:68845000-68850400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr14:68845000-68850400	Weak transcription	Fetal Intestine Small	intestine
27	chr14:68845200-68849400	Weak transcription	Brain Hippocampus Middle	brain
28	chr14:68845200-68849600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr14:68845200-68850000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr14:68845200-68850000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr14:68845200-68850000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr14:68845200-68850000	Weak transcription	Brain Substantia Nigra	brain
33	chr14:68845200-68850200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr14:68845200-68850200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr14:68845200-68853200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr14:68845200-68853600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr14:68845200-68858800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr14:68845400-68848800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr14:68845400-68850600	Weak transcription	Brain Anterior Caudate	brain
40	chr14:68845800-68849400	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr14:68845800-68849400	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr14:68845800-68850400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr14:68845800-68853200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr14:68846000-68849800	Weak transcription	Primary B cells from cord blood	blood
45	chr14:68846200-68849000	Enhancers	Placenta Amnion	Placenta Amnion
46	chr14:68846400-68848800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr14:68846400-68850200	Weak transcription	Colonic Mucosa	Colon
48	chr14:68846600-68849400	Weak transcription	Fetal Lung	lung
49	chr14:68847200-68848800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr14:68847200-68850400	Weak transcription	Primary T cells fromperipheralblood	blood

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