Variant report

Variant	rs2717521
Chromosome Location	chr2:37115396-37115397
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	chr2:37114197..37115898-chr2:37119369..37120894,2	K562	blood:
2	chr2:37114816..37116390-chr2:37191550..37193356,2	MCF-7	breast:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1015599	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1019311	0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs11124550	1.00[EUR][1000 genomes]
rs11892892	1.00[EUR][1000 genomes]
rs11896317	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2110943	1.00[EUR][1000 genomes]
rs2160378	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2247610	0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2254704	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2540921	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2540927	0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs2540928	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2540932	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2540934	0.84[YRI][hapmap]
rs2540935	0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs2540937	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2540938	1.00[EUR][1000 genomes]
rs2541003	1.00[EUR][1000 genomes]
rs2541005	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2691103	1.00[EUR][1000 genomes]
rs2691108	1.00[EUR][1000 genomes]
rs2691113	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2691117	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2691121	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2706810	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2706812	1.00[EUR][1000 genomes]
rs2706816	1.00[EUR][1000 genomes]
rs2717498	0.88[YRI][hapmap];1.00[EUR][1000 genomes]
rs2717499	0.94[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2717502	1.00[EUR][1000 genomes]
rs2717504	0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs2717506	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2717513	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2717514	0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs2717515	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2717517	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2949393	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57644053	1.00[AMR][1000 genomes]
rs59709996	1.00[AMR][1000 genomes]
rs61085492	1.00[EUR][1000 genomes]
rs61382980	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61561618	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6708710	1.00[EUR][1000 genomes]
rs6734109	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6738016	1.00[EUR][1000 genomes]
rs6750356	1.00[EUR][1000 genomes]
rs6758058	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs723674	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73924930	1.00[EUR][1000 genomes]
rs73924969	1.00[EUR][1000 genomes]
rs73924971	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7593630	1.00[EUR][1000 genomes]
rs7593646	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs964853	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv456363	chr2:37109281-37235324	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv581470	chr2:37109281-37235324	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37067600-37146200	Weak transcription	Psoas Muscle	Psoas
2	chr2:37075600-37139200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:37077000-37116200	Weak transcription	Hela-S3	cervix
4	chr2:37077000-37116200	Weak transcription	NHLF	lung
5	chr2:37077200-37144400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:37077400-37136600	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:37078200-37118400	Weak transcription	Fetal Brain Male	brain
8	chr2:37082200-37115600	Weak transcription	Stomach Mucosa	stomach
9	chr2:37087400-37146200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:37092800-37115600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:37094400-37154200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:37096400-37117000	Weak transcription	K562	blood
13	chr2:37096400-37143800	Weak transcription	Fetal Kidney	kidney
14	chr2:37096800-37154400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr2:37099000-37116800	Weak transcription	A549	lung
16	chr2:37099200-37140200	Weak transcription	Colonic Mucosa	Colon
17	chr2:37100400-37116800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr2:37101800-37119200	Weak transcription	GM12878-XiMat	blood
19	chr2:37103800-37117200	Weak transcription	HSMMtube	muscle
20	chr2:37103800-37121400	Weak transcription	Small Intestine	intestine
21	chr2:37103800-37146200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr2:37104200-37117800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:37105000-37152600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr2:37105000-37164600	Weak transcription	Lung	lung
25	chr2:37105200-37116600	Weak transcription	NHEK	skin
26	chr2:37105200-37117000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr2:37105200-37117200	Weak transcription	HMEC	breast
28	chr2:37105200-37118400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr2:37105200-37125400	Weak transcription	Brain Hippocampus Middle	brain
30	chr2:37105200-37136200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:37105200-37139200	Weak transcription	Aorta	Aorta
32	chr2:37105200-37141200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr2:37105200-37144000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr2:37105200-37154400	Weak transcription	Esophagus	oesophagus
35	chr2:37105200-37157800	Weak transcription	Pancreas	Pancrea
36	chr2:37105200-37164600	Weak transcription	Spleen	Spleen
37	chr2:37105800-37116800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:37105800-37146400	Weak transcription	Right Ventricle	heart
39	chr2:37107200-37115800	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr2:37107400-37116000	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr2:37107600-37116000	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr2:37109000-37117600	Strong transcription	Primary B cells from cord blood	blood
43	chr2:37110000-37135800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:37110200-37120600	Weak transcription	HepG2	liver
45	chr2:37110800-37119400	Weak transcription	Fetal Stomach	stomach
46	chr2:37110800-37142800	Weak transcription	Gastric	stomach
47	chr2:37111000-37120200	Weak transcription	Fetal Lung	lung
48	chr2:37111200-37116200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr2:37111200-37116600	Weak transcription	Fetal Intestine Small	intestine
50	chr2:37111200-37117000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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