Variant report

Variant	rs34900788
Chromosome Location	chr2:64082619-64082620
allele	C/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	GABPA	chr2:64082606-64082754	HepG2	liver:	n/a	n/a
2	PBX3	chr2:64082595-64082729	GM12878	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: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10166971	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12474366	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12475294	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12988017	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12993544	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12999675	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13010817	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13028805	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13034260	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1345479	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17555655	0.88[ASN][1000 genomes]
rs17620012	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2287361	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34145077	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34196086	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34200806	0.88[ASN][1000 genomes]
rs34239752	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34512058	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35058898	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35253921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35521527	0.88[ASN][1000 genomes]
rs35552326	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36099158	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3815616	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3934536	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4075010	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4482470	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4544421	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4599090	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4671072	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4671534	1.00[ASN][1000 genomes]
rs4671535	1.00[ASN][1000 genomes]
rs4671537	0.88[ASN][1000 genomes]
rs66595136	0.88[ASN][1000 genomes]
rs66660401	0.84[ASN][1000 genomes]
rs6730664	0.85[EUR][1000 genomes]
rs67366434	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67962955	0.88[ASN][1000 genomes]
rs72808216	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72808218	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72808231	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][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	chr2:64072000-64082800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr2:64072000-64082800	Weak transcription	Placenta	Placenta
8	chr2:64072000-64084200	Weak transcription	Esophagus	oesophagus
9	chr2:64072600-64084600	Weak transcription	Hela-S3	cervix
10	chr2:64073000-64083200	Weak transcription	Fetal Muscle Leg	muscle
11	chr2:64075200-64083000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr2:64076000-64083000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr2:64076200-64083000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:64077000-64082800	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr2:64077000-64082800	Weak transcription	Small Intestine	intestine
16	chr2:64077000-64083000	Weak transcription	GM12878-XiMat	blood
17	chr2:64077000-64083800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:64077000-64085000	Weak transcription	Brain Germinal Matrix	brain
19	chr2:64077000-64089000	Weak transcription	Fetal Brain Male	brain
20	chr2:64077000-64100200	Weak transcription	Ovary	ovary
21	chr2:64077200-64082800	Enhancers	Adipose Nuclei	Adipose
22	chr2:64077200-64083000	Weak transcription	Fetal Intestine Large	intestine
23	chr2:64077200-64083400	Enhancers	Brain Substantia Nigra	brain
24	chr2:64077200-64084200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:64077200-64084800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr2:64077200-64085000	Weak transcription	HMEC	breast
27	chr2:64077400-64084400	Weak transcription	Fetal Brain Female	brain
28	chr2:64077600-64083200	Weak transcription	Fetal Lung	lung
29	chr2:64077600-64083200	Weak transcription	NH-A	brain
30	chr2:64078000-64083600	Weak transcription	Osteobl	bone
31	chr2:64078000-64085000	Weak transcription	Fetal Kidney	kidney
32	chr2:64078000-64108000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr2:64078200-64083000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr2:64079000-64083200	Enhancers	Primary T cells from cord blood	blood
35	chr2:64079200-64083000	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr2:64079400-64082800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:64079400-64083400	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr2:64079400-64084800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr2:64079400-64084800	Weak transcription	HSMMtube	muscle
40	chr2:64079600-64084400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:64079800-64084400	Weak transcription	HSMM	muscle
42	chr2:64080000-64082800	Enhancers	Fetal Thymus	thymus
43	chr2:64080000-64083000	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr2:64080200-64083200	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr2:64080400-64082800	Weak transcription	Primary B cells from peripheral blood	blood
46	chr2:64080600-64083000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr2:64080600-64083200	Enhancers	Aorta	Aorta
48	chr2:64080600-64083600	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr2:64080800-64082800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:64080800-64082800	Weak transcription	Right Atrium	heart

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