Variant report

Variant	rs1991469
Chromosome Location	chr5:16553284-16553285
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:16489110..16490011-chr5:16552358..16553386,3	MCF-7	breast:
2	chr5:16551810..16554386-chr5:16638970..16640642,2	MCF-7	breast:
3	chr5:16552702..16553520-chr5:16666199..16667543,5	MCF-7	breast:
4	chr5:16552594..16553429-chr5:16666387..16667201,2	MCF-7	breast:
5	chr5:16464191..16467356-chr5:16550758..16555048,4	MCF-7	breast:
6	chr5:16552565..16553606-chr5:16568821..16570258,3	MCF-7	breast:
7	chr5:16464664..16468967-chr5:16550609..16554281,4	MCF-7	breast:
8	chr5:16488948..16490001-chr5:16552351..16553427,6	MCF-7	breast:
9	chr5:16547267..16550038-chr5:16551808..16553535,2	MCF-7	breast:
10	chr5:16505222..16507536-chr5:16551876..16554490,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000173545	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10053236	0.92[CHB][hapmap];0.85[JPT][hapmap];0.95[ASN][1000 genomes]
rs1020952	0.92[CHB][hapmap];0.87[JPT][hapmap];0.94[ASN][1000 genomes]
rs12109050	0.93[CHB][hapmap];0.87[JPT][hapmap];0.94[ASN][1000 genomes]
rs1240647	0.85[ASN][1000 genomes]
rs1551936	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs162758	0.92[CHB][hapmap];0.87[JPT][hapmap];0.94[ASN][1000 genomes]
rs1991468	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1991470	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1991471	0.93[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1991472	0.93[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2019248	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2019260	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2560829	0.82[ASN][1000 genomes]
rs2560830	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2560831	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2560832	0.84[ASN][1000 genomes]
rs2617422	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2617423	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2617424	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2617425	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2617426	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs31283	0.93[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs31288	0.93[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs334485	0.80[JPT][hapmap];0.81[ASN][1000 genomes]
rs334486	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs334487	0.80[JPT][hapmap];0.81[ASN][1000 genomes]
rs334490	0.80[ASN][1000 genomes]
rs334491	0.80[JPT][hapmap]
rs425779	0.81[ASN][1000 genomes]
rs595358	0.80[ASN][1000 genomes]
rs6858960	0.93[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs899186	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs991891	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs994099	0.93[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.99[ASN][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	nsv881187	chr5:16514269-16654960	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr5:16522400-16567400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:16539200-16554400	Weak transcription	Small Intestine	intestine
3	chr5:16542600-16567200	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr5:16543200-16591600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr5:16543600-16589800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr5:16544000-16562400	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr5:16544200-16565200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr5:16545000-16574600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr5:16546200-16559400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr5:16549200-16554400	Weak transcription	Fetal Intestine Large	intestine
11	chr5:16549200-16569000	Weak transcription	Left Ventricle	heart
12	chr5:16549200-16580200	Weak transcription	Gastric	stomach
13	chr5:16550400-16556800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:16550400-16557400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:16550600-16553400	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr5:16550800-16554200	Weak transcription	Pancreas	Pancrea
17	chr5:16550800-16555400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr5:16551600-16553400	Enhancers	Fetal Heart	heart
19	chr5:16551600-16553400	Enhancers	HSMMtube	muscle
20	chr5:16551800-16553400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr5:16551800-16553800	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr5:16552000-16553400	Enhancers	Brain Cingulate Gyrus	brain
23	chr5:16552200-16553400	Enhancers	Brain Substantia Nigra	brain
24	chr5:16552200-16553400	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr5:16552200-16553600	Enhancers	Brain Hippocampus Middle	brain
26	chr5:16552200-16554400	Enhancers	Brain Anterior Caudate	brain
27	chr5:16552400-16553600	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr5:16552400-16559200	Weak transcription	Primary T cells from cord blood	blood
29	chr5:16552600-16553400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr5:16552600-16553400	Enhancers	Duodenum Mucosa	Duodenum
31	chr5:16552600-16553400	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr5:16552800-16553400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr5:16552800-16553400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr5:16552800-16553400	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr5:16552800-16553400	Enhancers	Fetal Kidney	kidney
36	chr5:16552800-16553400	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr5:16553000-16568600	Weak transcription	NHDF-Ad	bronchial
38	chr5:16553000-16573400	Weak transcription	Fetal Intestine Small	intestine
39	chr5:16553200-16553400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr5:16553200-16553600	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr5:16553200-16556800	Weak transcription	Brain Angular Gyrus	brain
42	chr5:16553200-16557200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:16553200-16562000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr5:16553200-16564600	Weak transcription	Psoas Muscle	Psoas
45	chr5:16553200-16564600	Weak transcription	Thymus	Thymus

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