Variant report

Variant	rs2070308
Chromosome Location	chr20:13606048-13606049
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:13604911..13607863-chr20:13611443..13613306,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs13040087	0.82[AFR][1000 genomes]
rs2070307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2295504	0.94[LWK][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes]
rs2295505	0.97[ASN][1000 genomes]
rs2295506	1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs2423729	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2423730	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2423731	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2423732	0.82[AFR][1000 genomes]
rs2423734	0.82[AFR][1000 genomes]
rs6033772	1.00[CHB][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];0.91[ASN][1000 genomes]
rs6033773	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033777	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.82[TSI][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6033778	0.97[ASN][1000 genomes]
rs6033779	1.00[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs6033783	0.89[AFR][1000 genomes]
rs6042245	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6042255	1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042256	1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs6042261	1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs6042262	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.94[ASN][1000 genomes]
rs6042263	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042264	0.84[AFR][1000 genomes]
rs6042266	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6042269	0.93[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs6042273	0.84[AFR][1000 genomes]
rs6105142	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6109979	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109983	0.94[LWK][hapmap];0.95[MKK][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes]
rs6109990	0.80[AFR][1000 genomes]
rs6131495	0.97[ASN][1000 genomes]
rs6134937	1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.91[ASN][1000 genomes]
rs6134938	0.94[CHB][hapmap];0.97[ASN][1000 genomes]
rs6514418	0.95[YRI][hapmap];0.82[AFR][1000 genomes]
rs6514424	1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv916202	chr20:13421724-14043615	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1059817	chr20:13422602-13807968	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1066810	chr20:13451869-14432454	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	esv1797514	chr20:13541011-13610424	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1061323	chr20:13551004-13746346	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv912689	chr20:13570331-14155881	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv531478	chr20:13580524-13814797	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers 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	4 gene(s)	inside rSNPs	diseases
9	nsv1059221	chr20:13589432-13977327	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2070308	TASP1	cis	lung	GTEx

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13526800-13613800	Weak transcription	Hela-S3	cervix
2	chr20:13535600-13608000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr20:13556200-13618800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr20:13563800-13619000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr20:13564000-13612400	Weak transcription	Pancreas	Pancrea
6	chr20:13564200-13608400	Weak transcription	HSMM	muscle
7	chr20:13567200-13608600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr20:13567200-13618600	Weak transcription	Adipose Nuclei	Adipose
9	chr20:13567400-13606400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr20:13567400-13608400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr20:13567400-13608400	Weak transcription	HMEC	breast
12	chr20:13567600-13608600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr20:13568000-13608400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr20:13568400-13607200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr20:13572000-13607800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr20:13573600-13609400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr20:13574200-13606600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr20:13574400-13606400	Weak transcription	Thymus	Thymus
19	chr20:13574600-13606600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr20:13581200-13606200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr20:13582200-13606200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr20:13582600-13608000	Weak transcription	HSMMtube	muscle
23	chr20:13583200-13607200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr20:13583200-13607200	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr20:13583400-13607000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr20:13584000-13617800	Weak transcription	Aorta	Aorta
27	chr20:13585000-13610600	Weak transcription	Psoas Muscle	Psoas
28	chr20:13585200-13609000	Weak transcription	Fetal Muscle Leg	muscle
29	chr20:13585600-13606400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr20:13586600-13608600	Weak transcription	GM12878-XiMat	blood
31	chr20:13587000-13606400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr20:13587000-13618000	Weak transcription	Fetal Brain Male	brain
33	chr20:13588000-13618600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr20:13588600-13609200	Weak transcription	Left Ventricle	heart
35	chr20:13589800-13608400	Weak transcription	Osteobl	bone
36	chr20:13590800-13617800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr20:13591200-13619000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr20:13592200-13617800	Weak transcription	Small Intestine	intestine
39	chr20:13594400-13618600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr20:13595400-13618200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr20:13595600-13618200	Weak transcription	Colon Smooth Muscle	Colon
42	chr20:13596000-13607800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr20:13596000-13608400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr20:13596200-13606400	Weak transcription	NHEK	skin
45	chr20:13596200-13618200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr20:13596600-13608800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr20:13596600-13609400	Weak transcription	Fetal Brain Female	brain
48	chr20:13596600-13618000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr20:13597400-13618800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr20:13597600-13607200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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