Variant report

Variant	rs34239752
Chromosome Location	chr2:64075569-64075570
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:64066479..64069596-chr2:64075482..64078663,3	MCF-7	breast:
2	chr2:64071888..64074262-chr2:64074746..64076880,2	MCF-7	breast:
3	chr2:64065293..64070615-chr2:64075268..64080842,9	MCF-7	breast:
4	chr2:64074326..64076257-chr2:64078253..64080892,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169764	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10166971	0.91[ASN][1000 genomes]
rs12466966	0.87[EUR][1000 genomes]
rs12474366	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12475294	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12988017	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12990604	0.88[EUR][1000 genomes]
rs12993544	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12997303	0.81[EUR][1000 genomes]
rs12999675	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13007342	0.81[EUR][1000 genomes]
rs13007731	0.81[EUR][1000 genomes]
rs13009774	0.86[EUR][1000 genomes]
rs13010817	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13014781	0.84[EUR][1000 genomes]
rs13023542	0.83[EUR][1000 genomes]
rs13025640	0.84[EUR][1000 genomes]
rs13028805	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13034260	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1345479	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1437455	0.81[EUR][1000 genomes]
rs17555655	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17562312	0.85[EUR][1000 genomes]
rs17620012	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17701685	0.81[EUR][1000 genomes]
rs17701709	0.81[EUR][1000 genomes]
rs17752683	0.81[EUR][1000 genomes]
rs2287361	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34043307	0.82[EUR][1000 genomes]
rs34145077	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34196086	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34200806	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34512058	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34900788	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35058898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35247801	0.81[EUR][1000 genomes]
rs35253921	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35521527	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35552326	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35648996	0.83[EUR][1000 genomes]
rs35810427	0.85[EUR][1000 genomes]
rs35972278	0.87[EUR][1000 genomes]
rs35975566	0.88[EUR][1000 genomes]
rs36099158	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3815616	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3934536	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4075010	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4482470	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4544421	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4599090	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4671072	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4671534	0.98[ASN][1000 genomes]
rs4671535	0.98[ASN][1000 genomes]
rs4671537	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4671538	0.82[EUR][1000 genomes]
rs66476638	0.87[EUR][1000 genomes]
rs66535980	0.81[EUR][1000 genomes]
rs66595136	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66650505	0.87[EUR][1000 genomes]
rs66660401	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66993685	0.81[EUR][1000 genomes]
rs67366434	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67962955	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72808216	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72808218	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72808231	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72808248	0.88[EUR][1000 genomes]
rs72808254	0.87[EUR][1000 genomes]
rs72808262	0.88[EUR][1000 genomes]
rs874695	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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64067000-64075800	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr2:64067000-64076400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr2:64070000-64082800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:64070200-64076400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:64070200-64084600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:64070200-64103000	Weak transcription	Gastric	stomach
7	chr2:64070400-64075800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:64070600-64076600	Enhancers	Brain Substantia Nigra	brain
9	chr2:64070600-64082800	Weak transcription	Fetal Stomach	stomach
10	chr2:64070600-64083800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:64070800-64075800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:64070800-64076000	Enhancers	Brain Hippocampus Middle	brain
13	chr2:64070800-64082600	Weak transcription	HUVEC	blood vessel
14	chr2:64071000-64076200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:64071200-64076000	Weak transcription	Fetal Kidney	kidney
16	chr2:64071200-64076200	Weak transcription	Fetal Lung	lung
17	chr2:64071200-64076400	Weak transcription	Fetal Brain Male	brain
18	chr2:64071200-64080600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:64071600-64076400	Weak transcription	Stomach Mucosa	stomach
20	chr2:64071800-64076600	Weak transcription	Fetal Intestine Large	intestine
21	chr2:64071800-64076800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr2:64071800-64080200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr2:64071800-64080600	Weak transcription	Pancreas	Pancrea
24	chr2:64072000-64076000	Weak transcription	NH-A	brain
25	chr2:64072000-64076200	Weak transcription	Fetal Brain Female	brain
26	chr2:64072000-64076600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr2:64072000-64076600	Weak transcription	K562	blood
28	chr2:64072000-64080600	Weak transcription	Lung	lung
29	chr2:64072000-64081200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:64072000-64082800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr2:64072000-64082800	Weak transcription	Placenta	Placenta
32	chr2:64072000-64084200	Weak transcription	Esophagus	oesophagus
33	chr2:64072200-64076800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr2:64072200-64076800	Weak transcription	Fetal Thymus	thymus
35	chr2:64072200-64079600	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr2:64072600-64075800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr2:64072600-64076000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr2:64072600-64076800	Weak transcription	Primary T cells from cord blood	blood
39	chr2:64072600-64084600	Weak transcription	Hela-S3	cervix
40	chr2:64073000-64076000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr2:64073000-64076600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr2:64073000-64081800	Weak transcription	Colonic Mucosa	Colon
43	chr2:64073000-64083200	Weak transcription	Fetal Muscle Leg	muscle
44	chr2:64073200-64076400	Weak transcription	HMEC	breast
45	chr2:64073200-64076600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr2:64073200-64076600	Enhancers	HepG2	liver
47	chr2:64073200-64078400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr2:64073400-64075800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:64073400-64076000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:64073400-64076000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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