Variant report

Variant	rs17751427
Chromosome Location	chr4:87831092-87831093
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	chr4:87820850..87822534-chr4:87830208..87832118,2	MCF-7	breast:
2	chr4:87822889..87824648-chr4:87830970..87833864,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10011798	0.89[JPT][hapmap]
rs10015121	0.89[JPT][hapmap]
rs10015639	0.87[CEU][hapmap];0.92[EUR][1000 genomes]
rs10050311	0.87[CEU][hapmap]
rs1010902	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1010903	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10516786	0.87[CEU][hapmap];0.92[EUR][1000 genomes]
rs11097124	0.87[EUR][1000 genomes]
rs1447994	0.80[EUR][1000 genomes]
rs17012170	0.92[CEU][hapmap];0.86[CHB][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17012200	0.87[CEU][hapmap];0.94[EUR][1000 genomes]
rs17012213	0.94[EUR][1000 genomes]
rs17012216	0.94[EUR][1000 genomes]
rs17694112	0.81[CEU][hapmap]
rs17751557	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.90[MKK][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1985944	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2053771	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2121871	0.89[JPT][hapmap]
rs2287147	0.81[CEU][hapmap]
rs4693153	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4693154	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4693795	0.87[CEU][hapmap];0.84[CHB][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55698195	0.91[EUR][1000 genomes]
rs55831707	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55851914	0.94[EUR][1000 genomes]
rs56201068	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61651372	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6531941	0.87[CEU][hapmap];0.92[EUR][1000 genomes]
rs6846822	0.89[JPT][hapmap]
rs72667703	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72667705	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72667716	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72667721	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72667724	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72667727	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72667735	0.94[EUR][1000 genomes]
rs72667736	0.94[EUR][1000 genomes]
rs72667737	0.94[EUR][1000 genomes]
rs72667739	0.94[EUR][1000 genomes]
rs72667741	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1013308	chr4:87769694-87870168	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv508297	chr4:87778783-87868508	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87825600-87838800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr4:87825600-87846000	Weak transcription	Gastric	stomach
3	chr4:87825600-87849400	Weak transcription	Lung	lung
4	chr4:87825600-87849400	Weak transcription	Spleen	Spleen
5	chr4:87825800-87833000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr4:87825800-87834400	Weak transcription	Pancreas	Pancrea
7	chr4:87825800-87839400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr4:87825800-87843600	Weak transcription	Brain Anterior Caudate	brain
9	chr4:87825800-87854800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr4:87825800-87854800	Weak transcription	Right Ventricle	heart
11	chr4:87825800-87855200	Weak transcription	Fetal Stomach	stomach
12	chr4:87826000-87832600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:87826000-87834400	Weak transcription	Fetal Intestine Small	intestine
14	chr4:87826000-87852400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr4:87826200-87831200	Weak transcription	Ovary	ovary
16	chr4:87826200-87841000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:87826200-87843000	Weak transcription	Liver	Liver
18	chr4:87826200-87843400	Weak transcription	Brain Substantia Nigra	brain
19	chr4:87828600-87833000	Enhancers	GM12878-XiMat	blood
20	chr4:87829000-87832000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:87829000-87832600	Enhancers	Primary B cells from peripheral blood	blood
22	chr4:87829200-87831400	Enhancers	Fetal Heart	heart
23	chr4:87829200-87839800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:87829600-87832600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:87829800-87831600	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr4:87829800-87831800	Enhancers	Primary B cells from cord blood	blood
27	chr4:87829800-87832200	Enhancers	Primary hematopoietic stem cells	blood
28	chr4:87829800-87832400	Weak transcription	Osteobl	bone
29	chr4:87829800-87833000	Enhancers	Placenta	Placenta
30	chr4:87829800-87855000	Weak transcription	Aorta	Aorta
31	chr4:87830000-87831400	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr4:87830000-87832600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:87830200-87831600	Enhancers	Stomach Smooth Muscle	stomach
34	chr4:87830200-87849600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr4:87830200-87855200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr4:87830400-87832400	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr4:87830400-87847600	Weak transcription	Thymus	Thymus
38	chr4:87830400-87847800	Weak transcription	Psoas Muscle	Psoas
39	chr4:87830400-87849400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr4:87830400-87854600	Weak transcription	Brain Hippocampus Middle	brain
41	chr4:87830600-87834200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr4:87830600-87839400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:87830600-87839400	Weak transcription	Adipose Nuclei	Adipose
44	chr4:87830600-87843000	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr4:87830600-87843400	Weak transcription	Colon Smooth Muscle	Colon
46	chr4:87830600-87843400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr4:87830600-87845600	Weak transcription	Left Ventricle	heart
48	chr4:87830800-87831200	Weak transcription	Fetal Thymus	thymus
49	chr4:87830800-87831400	Enhancers	Right Atrium	heart
50	chr4:87830800-87831600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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