Variant report

Variant	rs31283
Chromosome Location	chr5:16564583-16564584
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	chr5:16562738..16565686-chr5:16598984..16600839,2	MCF-7	breast:
2	chr5:16563744..16565317-chr5:16569034..16570898,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10053236	0.92[CHB][hapmap];0.91[ASN][1000 genomes]
rs1020952	0.91[CHB][hapmap];0.90[ASN][1000 genomes]
rs12109050	0.92[CHB][hapmap];0.90[ASN][1000 genomes]
rs1240647	0.87[ASN][1000 genomes]
rs1551936	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs162758	0.91[CHB][hapmap];0.90[ASN][1000 genomes]
rs1991468	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1991469	0.93[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1991470	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1991471	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1991472	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2019248	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2019260	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2560830	1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2560831	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2560832	0.81[ASN][1000 genomes]
rs2617422	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2617423	0.93[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2617424	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2617425	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2617426	0.93[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs31288	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6858960	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs899186	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs991891	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs994099	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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:37 , 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	chr5:16542600-16567200	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr5:16543200-16591600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr5:16543600-16589800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr5:16544200-16565200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr5:16545000-16574600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr5:16549200-16569000	Weak transcription	Left Ventricle	heart
8	chr5:16549200-16580200	Weak transcription	Gastric	stomach
9	chr5:16553000-16568600	Weak transcription	NHDF-Ad	bronchial
10	chr5:16553000-16573400	Weak transcription	Fetal Intestine Small	intestine
11	chr5:16553200-16564600	Weak transcription	Psoas Muscle	Psoas
12	chr5:16553200-16564600	Weak transcription	Thymus	Thymus
13	chr5:16553400-16569600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr5:16553400-16572800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr5:16555200-16571400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr5:16556400-16569600	Weak transcription	Primary B cells from cord blood	blood
17	chr5:16556800-16567600	Weak transcription	Fetal Thymus	thymus
18	chr5:16558000-16569000	Weak transcription	Brain Germinal Matrix	brain
19	chr5:16559400-16564600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr5:16559400-16568200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr5:16559600-16574400	Weak transcription	Fetal Brain Female	brain
22	chr5:16560800-16566200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:16561200-16564600	Weak transcription	Brain Anterior Caudate	brain
24	chr5:16561200-16567200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr5:16561200-16574400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr5:16563000-16565400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr5:16563600-16564600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr5:16564200-16567000	Enhancers	Fetal Heart	heart
29	chr5:16564400-16564600	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr5:16564400-16565000	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr5:16564400-16565800	Enhancers	Brain Substantia Nigra	brain
32	chr5:16564400-16565800	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr5:16564400-16566000	Enhancers	Brain Angular Gyrus	brain
34	chr5:16564400-16566400	Enhancers	Brain Cingulate Gyrus	brain
35	chr5:16564400-16567400	Strong transcription	Primary T cells from cord blood	blood
36	chr5:16564400-16571400	Enhancers	Brain Hippocampus Middle	brain
37	chr5:16564400-16571600	Strong transcription	Primary T helper cells fromperipheralblood	blood

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