Variant report

Variant	rs1345479
Chromosome Location	chr2:64130231-64130232
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:64122001..64123547-chr2:64129156..64130782,2	K562	blood:
2	chr2:64110843..64112629-chr2:64128824..64132161,3	MCF-7	breast:
3	chr2:64126493..64128913-chr2:64128922..64131491,2	K562	blood:
4	chr2:64124663..64126805-chr2:64129629..64131901,2	MCF-7	breast:
5	chr2:64121804..64124503-chr2:64129282..64132356,3	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10166971	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.87[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10175674	0.89[CHB][hapmap]
rs12463827	0.84[EUR][1000 genomes]
rs12466966	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12468093	0.84[EUR][1000 genomes]
rs12474366	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12475294	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12988017	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12990604	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12993544	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12997303	0.85[EUR][1000 genomes]
rs12999675	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13005218	0.85[EUR][1000 genomes]
rs13007342	0.85[EUR][1000 genomes]
rs13007731	0.85[EUR][1000 genomes]
rs13009774	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13010817	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13014781	0.89[EUR][1000 genomes]
rs13023542	0.90[EUR][1000 genomes]
rs13025640	0.91[EUR][1000 genomes]
rs13028805	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13034260	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1437455	0.86[EUR][1000 genomes]
rs1545196	0.85[EUR][1000 genomes]
rs17555655	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17562312	0.92[EUR][1000 genomes]
rs17620012	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17701685	0.87[EUR][1000 genomes]
rs17701709	0.87[EUR][1000 genomes]
rs17752683	0.86[EUR][1000 genomes]
rs2287361	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2422110	0.81[EUR][1000 genomes]
rs34043307	0.88[EUR][1000 genomes]
rs34145077	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34196086	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34200806	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34239752	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34512058	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34900788	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35058898	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35122209	0.85[EUR][1000 genomes]
rs35247801	0.85[EUR][1000 genomes]
rs35253921	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35521527	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35552326	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35648996	0.90[EUR][1000 genomes]
rs35810427	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35972278	0.94[EUR][1000 genomes]
rs35975566	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36099158	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3815616	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3934536	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4075010	0.88[EUR][1000 genomes]
rs4482470	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4544421	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4599090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4671072	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4671534	0.91[ASN][1000 genomes]
rs4671535	1.00[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4671537	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4671538	0.86[EUR][1000 genomes]
rs66476638	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs66535980	0.87[EUR][1000 genomes]
rs66595136	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66650505	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs66660401	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66993685	0.86[EUR][1000 genomes]
rs6730664	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67366434	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67962955	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71422402	0.84[EUR][1000 genomes]
rs72808216	0.90[EUR][1000 genomes]
rs72808218	0.87[EUR][1000 genomes]
rs72808231	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72808236	0.83[ASN][1000 genomes]
rs72808248	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72808254	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72808262	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72808287	0.85[EUR][1000 genomes]
rs874695	0.84[EUR][1000 genomes]
rs893779	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.85[EUR][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	nsv521717	chr2:64104132-64186582	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64103800-64130400	Weak transcription	Stomach Mucosa	stomach
2	chr2:64114000-64130600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:64114000-64212000	Weak transcription	Small Intestine	intestine
4	chr2:64114200-64174800	Weak transcription	Right Ventricle	heart
5	chr2:64116800-64138600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:64118200-64153600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:64118400-64137800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:64119200-64132800	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:64119400-64133200	Weak transcription	Brain Anterior Caudate	brain
10	chr2:64119600-64139600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr2:64126000-64138000	Weak transcription	Brain Angular Gyrus	brain
12	chr2:64126200-64138800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr2:64126800-64130400	Strong transcription	Placenta Amnion	Placenta Amnion
14	chr2:64126800-64132400	Weak transcription	K562	blood
15	chr2:64127000-64132600	Weak transcription	Liver	Liver
16	chr2:64127000-64133200	Weak transcription	Placenta	Placenta
17	chr2:64127200-64138000	Weak transcription	HSMMtube	muscle
18	chr2:64127400-64138600	Weak transcription	Psoas Muscle	Psoas
19	chr2:64128200-64130800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:64128200-64132200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:64128200-64134000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:64128400-64131000	ZNF genes & repeats	A549	lung
23	chr2:64128400-64131000	ZNF genes & repeats	GM12878-XiMat	blood
24	chr2:64128400-64132000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:64128600-64130400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:64128600-64130400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:64128600-64130400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
28	chr2:64128600-64130600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:64128600-64131400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:64128600-64132200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
31	chr2:64128600-64133200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
32	chr2:64129000-64130600	ZNF genes & repeats	Fetal Muscle Leg	muscle
33	chr2:64129200-64130400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr2:64129200-64130400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:64129200-64130400	ZNF genes & repeats	Fetal Brain Female	brain
36	chr2:64129200-64130400	ZNF genes & repeats	Fetal Heart	heart
37	chr2:64129200-64130400	ZNF genes & repeats	NHDF-Ad	bronchial
38	chr2:64129200-64130600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:64129200-64130600	ZNF genes & repeats	Brain Substantia Nigra	brain
40	chr2:64129200-64130600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
41	chr2:64129200-64130600	ZNF genes & repeats	Fetal Kidney	kidney
42	chr2:64129200-64130600	ZNF genes & repeats	Fetal Lung	lung
43	chr2:64129200-64130800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
44	chr2:64129200-64130800	ZNF genes & repeats	Primary T cells from cord blood	blood
45	chr2:64129200-64130800	ZNF genes & repeats	Adipose Nuclei	Adipose
46	chr2:64129200-64131000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:64129200-64131200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
48	chr2:64129200-64131200	ZNF genes & repeats	Primary B cells from cord blood	blood
49	chr2:64129200-64131200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
50	chr2:64129200-64131400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood

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