Variant report

Variant	rs59335889
Chromosome Location	chr2:64204747-64204748
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ESRRA	chr2:64204316-64205862	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:64203137..64204872-chr2:64208577..64210562,2	K562	blood:
2	chr2:64198229..64200960-chr2:64202925..64205007,3	K562	blood:

Variant related genes	Relation type
VPS54	TF binding region

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

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10496104	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11896894	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11899693	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17028239	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17028316	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs17028343	0.95[AFR][1000 genomes]
rs17028348	0.90[AFR][1000 genomes]
rs17028356	0.90[AFR][1000 genomes]
rs35693031	0.83[AFR][1000 genomes]
rs36085609	0.85[AFR][1000 genomes]
rs3924029	0.81[EUR][1000 genomes]
rs4277507	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4470330	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55977137	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs56053068	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs56155077	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs56674285	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs56677212	0.92[AFR][1000 genomes]
rs56978264	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs57085982	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57101313	0.92[AFR][1000 genomes]
rs57202709	0.92[AFR][1000 genomes]
rs57936760	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs58074696	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs58198691	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs58297806	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs58889204	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58982089	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs59156176	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59540641	0.81[EUR][1000 genomes]
rs59736629	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs60350159	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs60847776	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61383573	0.94[AFR][1000 genomes]
rs61389158	0.89[AFR][1000 genomes]
rs61486417	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs62136393	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62136397	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62136398	0.85[AFR][1000 genomes]
rs62136400	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62136402	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62136407	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62136423	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62136429	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs62136446	0.84[AMR][1000 genomes]
rs73935051	0.91[AFR][1000 genomes]
rs7558570	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013375	chr2:63969820-64231550	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers 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 miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1002209	chr2:64160385-64238475	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr2:64114000-64212000	Weak transcription	Small Intestine	intestine
2	chr2:64130400-64211200	Weak transcription	Fetal Brain Male	brain
3	chr2:64137400-64204800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr2:64139800-64220600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:64154800-64242600	Weak transcription	Aorta	Aorta
6	chr2:64159600-64211600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:64163200-64207600	Weak transcription	HUVEC	blood vessel
8	chr2:64168800-64204800	Weak transcription	Psoas Muscle	Psoas
9	chr2:64169000-64215000	Weak transcription	Brain Angular Gyrus	brain
10	chr2:64175600-64213000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr2:64176000-64228000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:64176200-64205400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:64176400-64205000	Weak transcription	Brain Germinal Matrix	brain
14	chr2:64177600-64212600	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:64178200-64211400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:64184000-64205200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr2:64185800-64245000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:64186800-64216200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:64187600-64210200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:64187600-64211400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr2:64187800-64210200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:64187800-64211200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:64188000-64210000	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr2:64189600-64204800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:64189800-64204800	Weak transcription	A549	lung
26	chr2:64189800-64205000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr2:64190000-64205200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr2:64190000-64212000	Weak transcription	Stomach Mucosa	stomach
29	chr2:64190000-64212800	Weak transcription	Brain Substantia Nigra	brain
30	chr2:64192400-64207600	Strong transcription	HepG2	liver
31	chr2:64194000-64243200	Weak transcription	NHLF	lung
32	chr2:64196200-64205600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:64196400-64212400	Weak transcription	Colonic Mucosa	Colon
34	chr2:64196600-64205000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr2:64197600-64209200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:64198200-64204800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr2:64198400-64209800	Weak transcription	Brain Hippocampus Middle	brain
38	chr2:64198400-64210000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:64198400-64211400	Weak transcription	NH-A	brain
40	chr2:64198400-64211800	Weak transcription	HSMMtube	muscle
41	chr2:64198400-64213400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr2:64198600-64212600	Weak transcription	Fetal Heart	heart
43	chr2:64198600-64228000	Weak transcription	Right Ventricle	heart
44	chr2:64198800-64205000	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr2:64198800-64212200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr2:64199000-64205000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr2:64199000-64212200	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr2:64199000-64212800	Weak transcription	Brain Anterior Caudate	brain
49	chr2:64199600-64206400	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr2:64199600-64207400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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