Variant report

Variant	rs67366434
Chromosome Location	chr2:64082396-64082397
allele	A/T
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	POLR2A	chr2:64082247-64082571	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:64066677..64069203-chr2:64081708..64084913,3	MCF-7	breast:
2	chr2:64065422..64070588-chr2:64080925..64083417,5	K562	blood:
3	chr2:64066782..64070718-chr2:64080924..64091365,11	MCF-7	breast:

Variant related genes	Relation type
UGP2	TF binding region
ENSG00000169764	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10166971	0.93[ASN][1000 genomes]
rs12466966	0.88[EUR][1000 genomes]
rs12474366	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12475294	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12988017	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12990604	0.89[EUR][1000 genomes]
rs12993544	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12997303	0.80[EUR][1000 genomes]
rs12999675	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13007342	0.80[EUR][1000 genomes]
rs13007731	0.80[EUR][1000 genomes]
rs13009774	0.87[EUR][1000 genomes]
rs13010817	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13014781	0.84[EUR][1000 genomes]
rs13023542	0.84[EUR][1000 genomes]
rs13025640	0.84[EUR][1000 genomes]
rs13028805	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13034260	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1345479	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1437455	0.81[EUR][1000 genomes]
rs1545196	0.80[EUR][1000 genomes]
rs17555655	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17562312	0.86[EUR][1000 genomes]
rs17620012	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17701685	0.82[EUR][1000 genomes]
rs17701709	0.82[EUR][1000 genomes]
rs17752683	0.81[EUR][1000 genomes]
rs2287361	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34043307	0.83[EUR][1000 genomes]
rs34145077	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34196086	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34200806	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34239752	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34512058	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34900788	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35058898	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35253921	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35521527	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35552326	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35648996	0.84[EUR][1000 genomes]
rs35810427	0.86[EUR][1000 genomes]
rs35972278	0.87[EUR][1000 genomes]
rs35975566	0.89[EUR][1000 genomes]
rs36099158	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3815616	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3934536	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4075010	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4482470	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4544421	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4599090	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4671072	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4671534	1.00[ASN][1000 genomes]
rs4671535	1.00[ASN][1000 genomes]
rs4671537	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4671538	0.81[EUR][1000 genomes]
rs66476638	0.88[EUR][1000 genomes]
rs66535980	0.82[EUR][1000 genomes]
rs66595136	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66650505	0.88[EUR][1000 genomes]
rs66660401	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs66993685	0.81[EUR][1000 genomes]
rs67962955	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72808216	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72808218	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72808231	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72808248	0.89[EUR][1000 genomes]
rs72808254	0.88[EUR][1000 genomes]
rs72808262	0.89[EUR][1000 genomes]
rs72808287	0.80[EUR][1000 genomes]
rs893779	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64070000-64082800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:64070200-64084600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:64070200-64103000	Weak transcription	Gastric	stomach
4	chr2:64070600-64082800	Weak transcription	Fetal Stomach	stomach
5	chr2:64070600-64083800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr2:64070800-64082600	Weak transcription	HUVEC	blood vessel
7	chr2:64072000-64082800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:64072000-64082800	Weak transcription	Placenta	Placenta
9	chr2:64072000-64084200	Weak transcription	Esophagus	oesophagus
10	chr2:64072600-64084600	Weak transcription	Hela-S3	cervix
11	chr2:64073000-64083200	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:64075200-64083000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:64076000-64083000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr2:64076200-64082600	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr2:64076200-64083000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr2:64077000-64082800	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr2:64077000-64082800	Weak transcription	Small Intestine	intestine
18	chr2:64077000-64083000	Weak transcription	GM12878-XiMat	blood
19	chr2:64077000-64083800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:64077000-64085000	Weak transcription	Brain Germinal Matrix	brain
21	chr2:64077000-64089000	Weak transcription	Fetal Brain Male	brain
22	chr2:64077000-64100200	Weak transcription	Ovary	ovary
23	chr2:64077200-64082800	Enhancers	Adipose Nuclei	Adipose
24	chr2:64077200-64083000	Weak transcription	Fetal Intestine Large	intestine
25	chr2:64077200-64083400	Enhancers	Brain Substantia Nigra	brain
26	chr2:64077200-64084200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:64077200-64084800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr2:64077200-64085000	Weak transcription	HMEC	breast
29	chr2:64077400-64084400	Weak transcription	Fetal Brain Female	brain
30	chr2:64077600-64083200	Weak transcription	Fetal Lung	lung
31	chr2:64077600-64083200	Weak transcription	NH-A	brain
32	chr2:64078000-64083600	Weak transcription	Osteobl	bone
33	chr2:64078000-64085000	Weak transcription	Fetal Kidney	kidney
34	chr2:64078000-64108000	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr2:64078200-64083000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr2:64079000-64083200	Enhancers	Primary T cells from cord blood	blood
37	chr2:64079200-64082400	Flanking Active TSS	Dnd41	blood
38	chr2:64079200-64083000	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr2:64079400-64082600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:64079400-64082800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr2:64079400-64083400	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr2:64079400-64084800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr2:64079400-64084800	Weak transcription	HSMMtube	muscle
44	chr2:64079600-64082400	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr2:64079600-64084400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:64079800-64084400	Weak transcription	HSMM	muscle
47	chr2:64080000-64082800	Enhancers	Fetal Thymus	thymus
48	chr2:64080000-64083000	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr2:64080200-64083200	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr2:64080400-64082800	Weak transcription	Primary B cells from peripheral blood	blood

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