Variant report

Variant	rs848292
Chromosome Location	chr2:58385353-58385354
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	chr2:58379595..58382000-chr2:58385023..58386619,2	K562	blood:
2	chr2:58368906..58371663-chr2:58384969..58387445,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1016771	0.87[CEU][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap]
rs1051061	0.87[CEU][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap]
rs1100188	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1100191	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11678320	0.87[CEU][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs12622856	1.00[YRI][hapmap]
rs12999901	0.87[CEU][hapmap];1.00[YRI][hapmap]
rs13011711	0.87[CEU][hapmap];0.81[TSI][hapmap]
rs2691672	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35248619	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3771213	0.86[CEU][hapmap]
rs57390191	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62140014	0.83[AMR][1000 genomes]
rs6709460	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6727746	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs848278	0.91[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs848279	1.00[CEU][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.84[TSI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs848280	0.95[CEU][hapmap];0.82[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs848281	0.87[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs848282	0.95[CEU][hapmap];0.88[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs848284	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs848291	0.87[CEU][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][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	nsv525988	chr2:58161520-58427786	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv999042	chr2:58326123-58530903	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv535734	chr2:58326123-58530903	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58315200-58389600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:58344400-58386000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:58346800-58387200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:58347800-58386600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr2:58349000-58421200	Weak transcription	Brain Substantia Nigra	brain
6	chr2:58353800-58388200	Weak transcription	Small Intestine	intestine
7	chr2:58358200-58393800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:58358400-58389000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr2:58358800-58385600	Weak transcription	Fetal Thymus	thymus
10	chr2:58359000-58386600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr2:58359000-58387400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr2:58359000-58391400	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:58359000-58399000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr2:58359000-58454000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr2:58359200-58395200	Weak transcription	Fetal Stomach	stomach
16	chr2:58359200-58399200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:58359400-58385600	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr2:58359400-58389400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr2:58359600-58385600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr2:58359800-58392000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr2:58360800-58388600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:58363400-58399000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr2:58363600-58406800	Weak transcription	Brain Hippocampus Middle	brain
24	chr2:58365200-58390000	Weak transcription	Psoas Muscle	Psoas
25	chr2:58365600-58438000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr2:58368200-58387400	Weak transcription	NHLF	lung
27	chr2:58368200-58403000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:58368200-58417000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:58368600-58399000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:58370800-58387200	Weak transcription	Brain Anterior Caudate	brain
31	chr2:58372200-58386400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:58373200-58385800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:58373800-58389600	Weak transcription	Thymus	Thymus
34	chr2:58374000-58389400	Weak transcription	Right Ventricle	heart
35	chr2:58374400-58386600	Weak transcription	HUVEC	blood vessel
36	chr2:58374400-58393400	Weak transcription	NHEK	skin
37	chr2:58374400-58397400	Weak transcription	Fetal Heart	heart
38	chr2:58374600-58386600	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr2:58374600-58387400	Weak transcription	HMEC	breast
40	chr2:58375400-58385600	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr2:58379800-58389400	Strong transcription	Primary B cells from cord blood	blood
42	chr2:58380800-58387800	Weak transcription	Fetal Brain Female	brain
43	chr2:58380800-58398800	Weak transcription	Spleen	Spleen
44	chr2:58381000-58398800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:58381200-58391600	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr2:58381800-58390000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr2:58382200-58388800	Strong transcription	GM12878-XiMat	blood
48	chr2:58382200-58390200	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr2:58382200-58393200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:58382400-58389200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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