Variant report

Variant	rs2320
Chromosome Location	chr10:5930512-5930513
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1512694	0.82[MEX][hapmap]
rs2274029	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap]
rs2669122	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2669126	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4293039	0.84[CHB][hapmap];0.88[JPT][hapmap]
rs582359	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs591510	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.87[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs591878	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs593610	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs595923	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs598331	0.90[ASN][1000 genomes]
rs603780	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs607728	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs610093	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs621628	0.98[ASN][1000 genomes]
rs622758	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs626344	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.99[ASN][1000 genomes]
rs633797	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs633928	0.99[ASN][1000 genomes]
rs633930	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs635532	0.96[ASN][1000 genomes]
rs636578	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.88[JPT][hapmap];0.97[ASN][1000 genomes]
rs647945	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs649537	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.99[ASN][1000 genomes]
rs6602312	0.82[MEX][hapmap]
rs6602322	0.82[MEX][hapmap]
rs664603	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs668498	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs670856	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs672126	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs680020	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs685852	1.00[ASN][1000 genomes]
rs686854	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs688388	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7907053	0.82[MEX][hapmap]
rs7919785	0.82[MEX][hapmap]
rs792348	0.85[ASN][1000 genomes]
rs907687	0.84[ASW][hapmap];0.84[CEU][hapmap];0.84[CHB][hapmap];0.88[JPT][hapmap];0.86[MEX][hapmap]
rs980230	0.84[ASW][hapmap];0.84[CEU][hapmap];0.84[CHB][hapmap];0.88[JPT][hapmap];0.86[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv831775	chr10:5804335-6000849	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv5654	chr10:5868365-5930634	Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv825229	chr10:5886905-5967697	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv466723	chr10:5920836-5930579	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
8	nsv549905	chr10:5920836-5930579	Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
9	nsv466724	chr10:5920836-5938544	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
10	nsv549906	chr10:5920836-5938544	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
11	esv3389321	chr10:5930371-5933119	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5916600-5930600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr10:5920200-5930600	Weak transcription	Aorta	Aorta
3	chr10:5928400-5930600	Enhancers	Small Intestine	intestine
4	chr10:5929400-5930600	Enhancers	Lung	lung
5	chr10:5929600-5930600	Enhancers	Gastric	stomach
6	chr10:5929600-5930800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr10:5929800-5930600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:5929800-5930600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr10:5929800-5930600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr10:5929800-5930600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr10:5929800-5930600	Bivalent Enhancer	Stomach Mucosa	stomach
12	chr10:5929800-5930600	Enhancers	Spleen	Spleen
13	chr10:5929800-5930600	Transcr. at gene 5' and 3'	Dnd41	blood
14	chr10:5929800-5930600	Flanking Active TSS	HepG2	liver
15	chr10:5929800-5931000	Flanking Active TSS	Stomach Smooth Muscle	stomach
16	chr10:5929800-5931200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr10:5930000-5930600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr10:5930000-5930600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
19	chr10:5930000-5930600	Transcr. at gene 5' and 3'	A549	lung
20	chr10:5930000-5930600	Flanking Active TSS	GM12878-XiMat	blood
21	chr10:5930000-5930800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr10:5930000-5930800	Flanking Active TSS	Colon Smooth Muscle	Colon
23	chr10:5930000-5930800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr10:5930000-5930800	Enhancers	Placenta Amnion	Placenta Amnion
25	chr10:5930000-5930800	Flanking Active TSS	Rectal Smooth Muscle	rectum
26	chr10:5930000-5931000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr10:5930000-5931000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr10:5930000-5931000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr10:5930000-5931000	Flanking Active TSS	Brain Germinal Matrix	brain
30	chr10:5930000-5931000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr10:5930000-5931000	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr10:5930000-5931000	Flanking Active TSS	NHEK	skin
33	chr10:5930000-5931000	Flanking Active TSS	NHLF	lung
34	chr10:5930000-5931200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
35	chr10:5930000-5931200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr10:5930200-5930600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
37	chr10:5930200-5930600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr10:5930200-5930600	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr10:5930200-5930600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr10:5930200-5930600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
41	chr10:5930200-5930600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr10:5930200-5930600	Transcr. at gene 5' and 3'	Brain Substantia Nigra	brain
43	chr10:5930200-5930600	Active TSS	Colonic Mucosa	Colon
44	chr10:5930200-5930600	Flanking Active TSS	Fetal Intestine Small	intestine
45	chr10:5930200-5930600	Enhancers	Placenta	Placenta
46	chr10:5930200-5930600	Flanking Active TSS	Hela-S3	cervix
47	chr10:5930200-5930600	Transcr. at gene 5' and 3'	HSMM	muscle
48	chr10:5930200-5930600	Transcr. at gene 5' and 3'	K562	blood
49	chr10:5930200-5930800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
50	chr10:5930200-5930800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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