Variant report

Variant	rs1019311
Chromosome Location	chr2:37109281-37109282
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37108584..37111533-chr2:37117079..37119450,3	K562	blood:
2	chr2:37108584..37111603-chr2:37116874..37118803,4	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1015599	1.00[EUR][1000 genomes]
rs10490662	1.00[TSI][hapmap]
rs11124550	1.00[EUR][1000 genomes]
rs11891319	1.00[TSI][hapmap]
rs11892892	1.00[EUR][1000 genomes]
rs11896317	1.00[EUR][1000 genomes]
rs11901202	1.00[TSI][hapmap]
rs11902881	1.00[TSI][hapmap]
rs11904545	1.00[TSI][hapmap]
rs17019851	1.00[TSI][hapmap]
rs17019854	1.00[TSI][hapmap]
rs2110883	1.00[TSI][hapmap]
rs2110943	1.00[EUR][1000 genomes]
rs2160378	1.00[EUR][1000 genomes]
rs2247610	1.00[EUR][1000 genomes]
rs2254704	0.84[YRI][hapmap]
rs2540921	1.00[EUR][1000 genomes]
rs2540927	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2540928	1.00[EUR][1000 genomes]
rs2540932	1.00[EUR][1000 genomes]
rs2540934	1.00[ASW][hapmap];0.84[LWK][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs2540935	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2540938	1.00[EUR][1000 genomes]
rs2540994	1.00[TSI][hapmap]
rs2541003	1.00[EUR][1000 genomes]
rs2541005	1.00[EUR][1000 genomes]
rs2691103	1.00[EUR][1000 genomes]
rs2691108	1.00[EUR][1000 genomes]
rs2691113	1.00[EUR][1000 genomes]
rs2691117	0.82[ASW][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2691121	1.00[EUR][1000 genomes]
rs2706810	1.00[EUR][1000 genomes]
rs2706812	1.00[EUR][1000 genomes]
rs2706816	1.00[EUR][1000 genomes]
rs2717498	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2717499	0.91[ASW][hapmap];1.00[EUR][1000 genomes]
rs2717502	1.00[EUR][1000 genomes]
rs2717504	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2717506	1.00[EUR][1000 genomes]
rs2717513	1.00[EUR][1000 genomes]
rs2717514	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2717515	0.91[ASW][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];1.00[EUR][1000 genomes]
rs2717517	1.00[EUR][1000 genomes]
rs2717521	0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs2949393	1.00[EUR][1000 genomes]
rs4670606	1.00[TSI][hapmap]
rs61085492	1.00[EUR][1000 genomes]
rs61561618	1.00[EUR][1000 genomes]
rs6706964	1.00[TSI][hapmap]
rs6708710	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6710234	1.00[TSI][hapmap]
rs6734109	0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs6738016	1.00[EUR][1000 genomes]
rs6743906	1.00[TSI][hapmap]
rs6750356	1.00[EUR][1000 genomes]
rs6758058	1.00[EUR][1000 genomes]
rs723674	1.00[EUR][1000 genomes]
rs73924929	0.87[AMR][1000 genomes]
rs73924930	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73924969	1.00[EUR][1000 genomes]
rs73924971	1.00[EUR][1000 genomes]
rs7424163	1.00[TSI][hapmap]
rs7593630	1.00[EUR][1000 genomes]
rs929640	1.00[TSI][hapmap]
rs964853	0.84[YRI][hapmap];1.00[EUR][1000 genomes]
rs974964	1.00[TSI][hapmap]

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:120 , 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	chr2:37076800-37111600	Weak transcription	Brain Germinal Matrix	brain
4	chr2:37077000-37116200	Weak transcription	Hela-S3	cervix
5	chr2:37077000-37116200	Weak transcription	NHLF	lung
6	chr2:37077200-37144400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:37077400-37136600	Weak transcription	Colon Smooth Muscle	Colon
8	chr2:37078200-37118400	Weak transcription	Fetal Brain Male	brain
9	chr2:37079200-37111000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:37082200-37115600	Weak transcription	Stomach Mucosa	stomach
11	chr2:37087400-37146200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:37090800-37114200	Strong transcription	Primary B cells from peripheral blood	blood
13	chr2:37091000-37114000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:37091200-37114400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:37092800-37115600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:37094200-37113400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr2:37094400-37110400	Weak transcription	NH-A	brain
18	chr2:37094400-37154200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:37095800-37112600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr2:37096000-37111200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:37096400-37110800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr2:37096400-37117000	Weak transcription	K562	blood
23	chr2:37096400-37143800	Weak transcription	Fetal Kidney	kidney
24	chr2:37096800-37154400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr2:37098000-37112400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:37098400-37109800	Strong transcription	Primary T cells from cord blood	blood
27	chr2:37099000-37116800	Weak transcription	A549	lung
28	chr2:37099200-37112000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr2:37099200-37140200	Weak transcription	Colonic Mucosa	Colon
30	chr2:37099600-37109800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr2:37099600-37112400	Weak transcription	HUVEC	blood vessel
32	chr2:37100000-37110800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr2:37100400-37116800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr2:37101200-37111200	Strong transcription	Liver	Liver
35	chr2:37101800-37119200	Weak transcription	GM12878-XiMat	blood
36	chr2:37102400-37114200	Weak transcription	NHDF-Ad	bronchial
37	chr2:37102600-37112200	Weak transcription	Fetal Heart	heart
38	chr2:37103400-37109600	Weak transcription	Gastric	stomach
39	chr2:37103400-37109800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:37103800-37113400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:37103800-37117200	Weak transcription	HSMMtube	muscle
42	chr2:37103800-37121400	Weak transcription	Small Intestine	intestine
43	chr2:37103800-37146200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr2:37104200-37117800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:37104600-37109600	Weak transcription	Osteobl	bone
46	chr2:37105000-37152600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr2:37105000-37164600	Weak transcription	Lung	lung
48	chr2:37105200-37109600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:37105200-37109600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr2:37105200-37109600	Weak transcription	Adipose Nuclei	Adipose

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