Variant report

Variant	rs6033705
Chromosome Location	chr20:13411005-13411006
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs1012242	0.94[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1474954	0.90[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1474955	0.90[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1474956	0.95[CHB][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs1474957	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1884796	0.86[CEU][hapmap];0.89[EUR][1000 genomes]
rs1884797	0.86[CEU][hapmap];0.89[EUR][1000 genomes]
rs1963182	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1998123	0.90[CEU][hapmap];0.89[EUR][1000 genomes]
rs2001178	0.90[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.87[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2057256	0.95[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2057257	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2070306	0.90[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2070334	0.89[YRI][hapmap]
rs2273477	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2327790	0.87[EUR][1000 genomes]
rs2327791	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2876344	0.82[ASN][1000 genomes]
rs2876357	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34590652	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3761889	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3761890	0.80[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3789347	0.87[YRI][hapmap]
rs3803973	0.85[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3827702	0.95[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3827703	0.95[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4813130	0.89[EUR][1000 genomes]
rs4813132	1.00[CHB][hapmap];0.87[JPT][hapmap]
rs4813134	0.95[CEU][hapmap];0.96[CHB][hapmap];0.87[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4813135	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4814233	0.96[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs4814234	0.95[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4814235	0.90[EUR][1000 genomes]
rs4814239	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4814246	0.95[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.87[YRI][hapmap]
rs527865	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs593846	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6033722	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6033724	0.90[EUR][1000 genomes]
rs6033749	0.86[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs6033756	0.84[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6042106	0.89[YRI][hapmap]
rs6042128	0.87[YRI][hapmap]
rs6042135	0.90[CEU][hapmap];0.90[EUR][1000 genomes]
rs6042141	0.84[CEU][hapmap];0.89[EUR][1000 genomes]
rs6042162	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6042188	0.90[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6042192	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[YRI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6042195	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6042211	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs6042218	0.90[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6042224	0.86[YRI][hapmap]
rs6074604	0.92[ASN][1000 genomes]
rs6074605	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6074610	1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6074616	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6079032	0.82[ASN][1000 genomes]
rs6079035	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs6079042	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs6079043	0.92[ASN][1000 genomes]
rs6079048	0.88[ASN][1000 genomes]
rs6079049	0.95[CEU][hapmap];0.96[CHB][hapmap];0.87[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6079062	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6079063	0.96[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6079074	0.87[YRI][hapmap]
rs6079086	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6079097	0.90[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6079102	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6079115	0.90[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap]
rs6105087	0.85[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6105118	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6105119	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6109847	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6109854	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6109858	0.96[CHB][hapmap];0.87[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6109861	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6109862	0.95[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs6109918	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6109923	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6109935	0.95[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.87[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6109946	0.83[EUR][1000 genomes]
rs6131471	0.96[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs6134862	0.95[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs6134870	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6134895	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6514411	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7265499	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs743183	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs911014	0.90[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs932568	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][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	esv3425983	chr20:13046768-13461834	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv21228	chr20:13283535-13447810	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1062049	chr20:13347580-13477455	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv544186	chr20:13347580-13477455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1061303	chr20:13395546-13810990	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv585435	chr20:13410638-13582476	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13364400-13415400	Weak transcription	Right Ventricle	heart
2	chr20:13364600-13416800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr20:13369000-13411200	Strong transcription	Dnd41	blood
4	chr20:13371400-13413600	Weak transcription	Ovary	ovary
5	chr20:13374200-13417200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr20:13379200-13463000	Weak transcription	HSMM	muscle
7	chr20:13392600-13421400	Weak transcription	Psoas Muscle	Psoas
8	chr20:13392800-13415000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr20:13393800-13416800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr20:13394000-13415600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr20:13394200-13416800	Weak transcription	Esophagus	oesophagus
12	chr20:13394200-13417200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr20:13395000-13415000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr20:13395600-13416800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr20:13395600-13477800	Weak transcription	Gastric	stomach
16	chr20:13396000-13415000	Weak transcription	Brain Hippocampus Middle	brain
17	chr20:13396000-13417000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr20:13397400-13421200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr20:13397800-13414400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr20:13397800-13415000	Weak transcription	Adipose Nuclei	Adipose
21	chr20:13398200-13412000	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr20:13398200-13414600	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr20:13398200-13415000	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr20:13398200-13415000	Weak transcription	Aorta	Aorta
25	chr20:13398200-13415000	Weak transcription	Fetal Intestine Small	intestine
26	chr20:13398200-13415000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr20:13398200-13415000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr20:13398200-13416800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr20:13398200-13417800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr20:13399800-13430800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr20:13403800-13435000	Weak transcription	HMEC	breast
32	chr20:13404400-13434800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr20:13404400-13434800	Weak transcription	NHEK	skin
34	chr20:13405400-13415000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr20:13405400-13417200	Weak transcription	Small Intestine	intestine
36	chr20:13406400-13415200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr20:13406600-13414600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr20:13406800-13413800	Weak transcription	Fetal Lung	lung
39	chr20:13406800-13417400	Weak transcription	Colon Smooth Muscle	Colon
40	chr20:13407800-13417200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr20:13408000-13417400	Weak transcription	Fetal Brain Female	brain
42	chr20:13408000-13419600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr20:13408200-13412000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr20:13408400-13417000	Weak transcription	Brain Anterior Caudate	brain
45	chr20:13408800-13416800	Weak transcription	Colonic Mucosa	Colon
46	chr20:13409000-13416800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr20:13409000-13419600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr20:13409200-13417400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr20:13409600-13412000	Genic enhancers	HepG2	liver
50	chr20:13409600-13416400	Strong transcription	Fetal Thymus	thymus

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