Variant report

Variant	rs2717063
Chromosome Location	chr2:58110969-58110970
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:58108798..58111320-chr2:58112288..58115523,3	K562	blood:
2	chr2:58110610..58113165-chr2:58114758..58117259,2	MCF-7	breast:
3	chr2:58109065..58111032-chr2:58113088..58114709,2	MCF-7	breast:

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs1040224	0.93[CEU][hapmap];0.86[CHB][hapmap];0.92[EUR][1000 genomes]
rs1040225	0.93[CEU][hapmap];0.86[CHB][hapmap];0.93[EUR][1000 genomes]
rs10445894	0.81[ASN][1000 genomes]
rs1106302	0.85[JPT][hapmap]
rs12713370	0.86[CEU][hapmap]
rs1356544	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1356545	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1401100	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs1402398	0.81[EUR][1000 genomes]
rs1518393	0.87[EUR][1000 genomes]
rs1518394	0.87[EUR][1000 genomes]
rs1518395	0.85[CEU][hapmap]
rs1568253	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs1568254	0.88[EUR][1000 genomes]
rs1568450	0.81[EUR][1000 genomes]
rs1589407	0.81[EUR][1000 genomes]
rs2090793	0.81[EUR][1000 genomes]
rs2139054	0.90[EUR][1000 genomes]
rs2176546	0.86[EUR][1000 genomes]
rs2312141	0.91[EUR][1000 genomes]
rs2312147	0.81[CEU][hapmap]
rs2465804	0.93[CEU][hapmap];0.86[CHB][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2678870	0.90[CEU][hapmap];0.86[CHB][hapmap]
rs2678880	0.93[CEU][hapmap];0.90[CHB][hapmap]
rs2678881	0.93[EUR][1000 genomes]
rs2678889	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs2678890	0.88[EUR][1000 genomes]
rs2678891	0.88[EUR][1000 genomes]
rs2678896	0.88[EUR][1000 genomes]
rs2678897	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs2678901	0.93[CEU][hapmap];0.86[CHB][hapmap];0.92[EUR][1000 genomes]
rs2678903	0.93[CEU][hapmap];0.86[CHB][hapmap];0.93[EUR][1000 genomes]
rs2678904	0.91[EUR][1000 genomes]
rs2678905	0.93[CEU][hapmap];0.86[CHB][hapmap];0.93[EUR][1000 genomes]
rs2678906	0.93[CEU][hapmap];0.85[CHB][hapmap];0.93[EUR][1000 genomes]
rs2678908	0.93[CEU][hapmap];0.90[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2678910	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2678915	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2683614	0.81[EUR][1000 genomes]
rs2683616	0.81[EUR][1000 genomes]
rs2683619	0.81[EUR][1000 genomes]
rs2683620	0.81[EUR][1000 genomes]
rs2683625	0.81[ASN][1000 genomes]
rs2683628	0.81[EUR][1000 genomes]
rs2683629	0.81[EUR][1000 genomes]
rs2683634	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2717001	0.93[CEU][hapmap];0.90[CHB][hapmap];0.91[EUR][1000 genomes]
rs2717002	0.93[CEU][hapmap];0.90[CHB][hapmap];0.93[EUR][1000 genomes]
rs2717003	0.83[EUR][1000 genomes]
rs2717004	0.93[CEU][hapmap];0.86[CHB][hapmap];0.93[EUR][1000 genomes]
rs2717006	0.86[CEU][hapmap];0.81[CHB][hapmap];0.80[EUR][1000 genomes]
rs2717007	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2717015	0.91[EUR][1000 genomes]
rs2717018	0.81[EUR][1000 genomes]
rs2717019	0.90[CEU][hapmap];0.81[CHB][hapmap]
rs2717023	0.89[CEU][hapmap]
rs2717024	0.89[CEU][hapmap]
rs2717031	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs2717032	0.88[EUR][1000 genomes]
rs2717035	0.88[EUR][1000 genomes]
rs2717036	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs2717040	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs2717041	0.86[EUR][1000 genomes]
rs2717043	0.81[CHB][hapmap]
rs2717048	0.81[EUR][1000 genomes]
rs2717056	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2717068	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2717070	0.81[ASN][1000 genomes]
rs2717075	0.81[EUR][1000 genomes]
rs28718871	0.94[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2953439	0.81[EUR][1000 genomes]
rs2953441	0.81[EUR][1000 genomes]
rs2953443	0.81[ASN][1000 genomes]
rs4672223	0.81[EUR][1000 genomes]
rs6545663	0.81[EUR][1000 genomes]
rs6545664	0.81[EUR][1000 genomes]
rs6545665	0.81[EUR][1000 genomes]
rs6545677	0.83[CEU][hapmap]
rs6732310	0.85[CEU][hapmap]
rs6756221	0.81[EUR][1000 genomes]
rs6761347	0.81[EUR][1000 genomes]
rs7598169	0.81[EUR][1000 genomes]
rs908730	0.80[EUR][1000 genomes]
rs970941	0.88[CEU][hapmap];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007118	chr2:57562051-58147588	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv874196	chr2:57946148-58220320	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv834148	chr2:57979661-58119213	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1010981	chr2:58013389-58205699	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv874199	chr2:58031249-58161520	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv834159	chr2:58101262-58283655	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58106000-58113000	Weak transcription	Brain Germinal Matrix	brain
2	chr2:58106000-58113400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr2:58106000-58113400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:58106000-58113400	Weak transcription	Pancreas	Pancrea
5	chr2:58106400-58113600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:58108600-58111600	Weak transcription	Fetal Brain Female	brain
7	chr2:58110000-58113400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:58110200-58111000	Enhancers	Hela-S3	cervix
9	chr2:58110400-58112200	Weak transcription	Fetal Brain Male	brain
10	chr2:58110400-58112800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:58110400-58113200	Weak transcription	Osteobl	bone
12	chr2:58110400-58117200	Weak transcription	NHDF-Ad	bronchial
13	chr2:58110600-58111400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:58110600-58111400	Enhancers	GM12878-XiMat	blood
15	chr2:58110600-58111600	Weak transcription	Brain Angular Gyrus	brain
16	chr2:58110600-58111600	Weak transcription	Brain Hippocampus Middle	brain
17	chr2:58110600-58112200	Weak transcription	Brain Substantia Nigra	brain
18	chr2:58110600-58112400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr2:58110600-58112400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr2:58110600-58112600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:58110600-58112600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr2:58110600-58112800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:58110600-58112800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:58110600-58113000	Weak transcription	Brain Anterior Caudate	brain
25	chr2:58110600-58117400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:58110600-58117400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr2:58110800-58113800	Enhancers	A549	lung

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