Variant report

Variant	rs2464805
Chromosome Location	chr5:112101793-112101794
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10463643	0.97[GIH][hapmap];0.86[TSI][hapmap];0.86[EUR][1000 genomes]
rs1069061	0.84[CEU][hapmap];0.82[CHD][hapmap];0.87[GIH][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap]
rs1093677	0.83[CEU][hapmap];0.87[GIH][hapmap];0.85[MEX][hapmap];0.84[TSI][hapmap]
rs1441375	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs151976	0.82[CEU][hapmap]
rs151977	0.84[CEU][hapmap];0.85[MEX][hapmap];0.82[TSI][hapmap]
rs1661035	0.96[CEU][hapmap];0.83[YRI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1661036	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1734243	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1816769	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs187075	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1966476	0.81[EUR][1000 genomes]
rs1966477	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2229992	0.85[CEU][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes]
rs2431238	1.00[ASW][hapmap];0.88[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap]
rs2439591	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2545159	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2545162	0.96[CEU][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2545163	0.96[CEU][hapmap];0.86[CHB][hapmap];0.91[YRI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2545164	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2545165	0.85[CEU][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2545166	0.83[CEU][hapmap]
rs2545167	0.83[CEU][hapmap];0.84[GIH][hapmap];0.81[TSI][hapmap]
rs2545169	0.96[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2546110	0.85[CEU][hapmap];0.87[TSI][hapmap];0.80[EUR][1000 genomes]
rs2546111	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2546116	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2952615	0.85[CEU][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs351771	0.85[CEU][hapmap];0.97[GIH][hapmap];0.93[MEX][hapmap];0.87[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs372492	0.84[CEU][hapmap]
rs382260	0.84[CEU][hapmap];0.84[GIH][hapmap];0.85[TSI][hapmap]
rs386830	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs392907	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs395266	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs397768	0.90[EUR][1000 genomes]
rs401908	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs41115	0.85[CEU][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes]
rs411356	0.96[CEU][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs42427	0.85[CEU][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes]
rs429427	0.84[GIH][hapmap]
rs430665	0.87[GIH][hapmap]
rs431287	0.84[CEU][hapmap]
rs433429	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs434157	0.84[CEU][hapmap];0.82[CHD][hapmap];0.87[GIH][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap]
rs458967	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs459552	0.86[CHB][hapmap];0.86[CHD][hapmap]
rs463229	0.84[CEU][hapmap]
rs464002	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs464708	0.96[CEU][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs465899	0.85[CEU][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes]
rs468179	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs469727	0.87[GIH][hapmap]
rs469760	0.83[CEU][hapmap]
rs497844	0.94[GIH][hapmap];0.85[MEX][hapmap]
rs501250	0.85[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs529076	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs544243	0.86[CHB][hapmap];0.86[CHD][hapmap];0.86[MEX][hapmap]
rs563556	0.92[CEU][hapmap];0.86[CHB][hapmap];0.91[YRI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs698405	0.87[GIH][hapmap]
rs712662	0.87[GIH][hapmap]
rs712665	0.87[GIH][hapmap]
rs712668	0.84[CEU][hapmap]
rs818427	0.84[CEU][hapmap]
rs866006	0.81[CEU][hapmap];0.97[GIH][hapmap];0.86[MEX][hapmap];0.89[TSI][hapmap];0.87[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	nsv830450	chr5:111964170-112134510	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv462387	chr5:112053911-112124369	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
3	nsv599393	chr5:112053911-112124369	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv1032464	chr5:112076061-112192380	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv537862	chr5:112076061-112192380	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112074400-112102800	Weak transcription	Fetal Stomach	stomach
2	chr5:112074400-112103400	Weak transcription	Left Ventricle	heart
3	chr5:112074400-112119800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:112074400-112125600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:112074400-112128600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr5:112074600-112103000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:112075200-112103000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:112079600-112128200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr5:112079800-112128600	Weak transcription	Small Intestine	intestine
10	chr5:112081200-112128600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:112084400-112103000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr5:112084600-112103200	Weak transcription	Psoas Muscle	Psoas
13	chr5:112087600-112117600	Weak transcription	Gastric	stomach
14	chr5:112089800-112116600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr5:112093400-112102800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr5:112093400-112103200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr5:112093400-112103200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr5:112093400-112103200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr5:112093400-112103400	Weak transcription	Thymus	Thymus
20	chr5:112093400-112103600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr5:112093400-112103800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr5:112093400-112103800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr5:112093400-112108600	Weak transcription	Brain Angular Gyrus	brain
24	chr5:112093400-112114800	Weak transcription	Brain Substantia Nigra	brain
25	chr5:112093400-112114800	Weak transcription	NHEK	skin
26	chr5:112093400-112116000	Weak transcription	HUVEC	blood vessel
27	chr5:112093400-112117400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr5:112093400-112128600	Weak transcription	Ovary	ovary
29	chr5:112093400-112128600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr5:112093400-112183800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr5:112093600-112103400	Weak transcription	Fetal Kidney	kidney
32	chr5:112093800-112102200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr5:112094200-112102800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr5:112094200-112128600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr5:112094200-112128800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr5:112095200-112122400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:112095400-112102800	Weak transcription	Fetal Intestine Small	intestine
38	chr5:112095600-112104600	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr5:112095600-112116800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr5:112096200-112102000	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr5:112096200-112102600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr5:112096200-112102600	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr5:112096200-112102800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr5:112096200-112102800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr5:112096200-112103400	Weak transcription	Fetal Muscle Leg	muscle
46	chr5:112096200-112105000	Weak transcription	Fetal Lung	lung
47	chr5:112096200-112116000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr5:112096200-112117600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr5:112096400-112102000	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr5:112096400-112102000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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