Variant report

Variant	rs31912
Chromosome Location	chr5:14811645-14811646
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14809897..14811757-chr5:14812423..14814739,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1061813	0.93[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11133799	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1117282	0.89[ASN][1000 genomes]
rs12653321	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13155894	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1353258	0.89[CEU][hapmap];0.93[CHB][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1812658	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2453316	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs258218	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs258219	0.93[CHB][hapmap];0.91[ASN][1000 genomes]
rs258222	0.92[CEU][hapmap];0.86[CHB][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs258224	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs258225	0.96[CEU][hapmap];0.93[CHB][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs258226	0.96[CEU][hapmap];0.86[CHB][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs258227	0.96[CEU][hapmap];0.86[CHB][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs258228	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs258231	0.93[CHB][hapmap];0.91[ASN][1000 genomes]
rs25957	0.92[CHB][hapmap];0.89[ASN][1000 genomes]
rs28005	0.90[ASN][1000 genomes]
rs28006	0.93[CHB][hapmap];0.89[ASN][1000 genomes]
rs28108	0.91[ASN][1000 genomes]
rs30615	0.84[ASN][1000 genomes]
rs31909	0.96[CEU][hapmap];0.93[CHB][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs31933	0.93[CHB][hapmap];0.91[ASN][1000 genomes]
rs31990	0.92[CEU][hapmap];0.87[CHB][hapmap]
rs33102	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs39636	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs39916	0.87[ASN][1000 genomes]
rs42679	0.96[CEU][hapmap];0.93[CHB][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs42680	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs573116	0.81[ASN][1000 genomes]
rs826352	0.92[CEU][hapmap];0.86[CHB][hapmap];0.90[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs826357	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs879253	0.92[CEU][hapmap];0.93[CHB][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9790982	0.93[CHB][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv948447	chr5:14771247-14852610	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830212	chr5:14784197-14966683	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14778200-14817200	Weak transcription	Fetal Brain Female	brain
2	chr5:14796400-14821800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr5:14809400-14812800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr5:14809400-14813400	Enhancers	Primary B cells from peripheral blood	blood
5	chr5:14809600-14811800	Enhancers	Fetal Thymus	thymus
6	chr5:14809600-14811800	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr5:14809600-14814400	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr5:14809600-14815000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr5:14809800-14811800	Enhancers	Placenta	Placenta
10	chr5:14810200-14812400	Weak transcription	Aorta	Aorta
11	chr5:14810400-14811800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:14810400-14812000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:14810400-14812000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr5:14810400-14812400	Enhancers	Thymus	Thymus
15	chr5:14810400-14814600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr5:14810600-14811800	Enhancers	Primary T cells fromperipheralblood	blood
17	chr5:14810600-14811800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr5:14810600-14812000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr5:14810600-14812000	Enhancers	Hela-S3	cervix
20	chr5:14810600-14812200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:14810600-14812800	Enhancers	Primary B cells from cord blood	blood
22	chr5:14810600-14814200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr5:14810600-14814400	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr5:14810600-14814600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr5:14810600-14815400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr5:14810800-14812600	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr5:14810800-14815600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr5:14810800-14816000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:14810800-14816000	Weak transcription	A549	lung
30	chr5:14811000-14812000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:14811000-14812000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:14811000-14814000	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr5:14811000-14814200	Enhancers	Primary T cells from cord blood	blood
34	chr5:14811200-14811800	Enhancers	Spleen	Spleen
35	chr5:14811200-14814400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr5:14811200-14816200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr5:14811200-14816400	Weak transcription	NHEK	skin
38	chr5:14811400-14813000	Weak transcription	HepG2	liver
39	chr5:14811400-14813800	Weak transcription	HSMM	muscle
40	chr5:14811400-14816200	Weak transcription	NH-A	brain
41	chr5:14811400-14816400	Weak transcription	NHLF	lung
42	chr5:14811400-14821400	Weak transcription	Fetal Heart	heart
43	chr5:14811600-14811800	Enhancers	Brain Hippocampus Middle	brain
44	chr5:14811600-14811800	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr5:14811600-14812000	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr5:14811600-14812200	Enhancers	Brain Substantia Nigra	brain
47	chr5:14811600-14812400	Weak transcription	Pancreas	Pancrea
48	chr5:14811600-14812400	Weak transcription	Right Ventricle	heart
49	chr5:14811600-14812400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr5:14811600-14812600	Enhancers	Brain Cingulate Gyrus	brain

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