Variant report

Variant	rs12463827
Chromosome Location	chr2:64235444-64235445
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:64233493..64236244-chr2:64240747..64243613,2	K562	blood:
2	chr2:64234313..64237072-chr2:64243615..64245579,2	MCF-7	breast:
3	chr2:64227637..64233066-chr2:64233431..64237218,6	K562	blood:
4	chr2:64233493..64235637-chr2:64236506..64238086,2	K562	blood:
5	chr2:64231084..64233008-chr2:64234332..64235967,2	MCF-7	breast:

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10166971	0.82[ASN][1000 genomes]
rs10190776	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12466966	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12468093	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12475294	0.83[EUR][1000 genomes]
rs12990604	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12993544	0.81[EUR][1000 genomes]
rs12996147	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12997303	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12999675	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13005218	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13007342	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13007731	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13009774	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13014781	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13015703	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13023542	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13025640	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13034260	0.82[EUR][1000 genomes]
rs1345479	0.84[EUR][1000 genomes]
rs1437455	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1545196	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17555655	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17562312	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17620012	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17701685	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17701709	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17752683	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2002443	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2119133	0.81[ASN][1000 genomes]
rs2287361	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2422110	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2422111	0.84[AMR][1000 genomes]
rs34043307	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34145077	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34196086	0.82[ASN][1000 genomes]
rs34200806	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34512058	0.82[EUR][1000 genomes]
rs34683043	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34700615	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35122209	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35247801	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35521527	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35648996	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35693031	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35810427	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35939512	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35972278	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35975566	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36085609	0.81[ASN][1000 genomes]
rs3815616	0.84[EUR][1000 genomes]
rs3934536	0.81[EUR][1000 genomes]
rs4482470	0.84[EUR][1000 genomes]
rs4485552	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4544421	0.82[EUR][1000 genomes]
rs4599090	0.82[EUR][1000 genomes]
rs4671537	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4671538	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4671540	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4671541	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66476638	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66535980	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66595136	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66650505	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66660401	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66993685	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6759803	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs67962955	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71422402	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72808231	0.83[EUR][1000 genomes]
rs72808248	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72808254	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72808262	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72808287	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72808296	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs874695	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs893779	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	esv2763643	chr2:64219887-64281337	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64154800-64242600	Weak transcription	Aorta	Aorta
2	chr2:64185800-64245000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:64194000-64243200	Weak transcription	NHLF	lung
4	chr2:64209400-64244800	Weak transcription	HSMM	muscle
5	chr2:64210200-64243000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr2:64213800-64244600	Weak transcription	HUVEC	blood vessel
7	chr2:64219200-64237000	Weak transcription	Placenta	Placenta
8	chr2:64219400-64238400	Weak transcription	Gastric	stomach
9	chr2:64222400-64242600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:64222400-64243000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:64223600-64235600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:64225400-64242200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr2:64225800-64237000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr2:64225800-64242600	Weak transcription	Fetal Kidney	kidney
15	chr2:64226000-64243000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr2:64226000-64245000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr2:64226200-64245000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:64226200-64245000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:64226600-64242400	Weak transcription	Primary B cells from cord blood	blood
20	chr2:64226600-64242400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr2:64226800-64242600	Weak transcription	Small Intestine	intestine
22	chr2:64227000-64244600	Weak transcription	Fetal Brain Female	brain
23	chr2:64227200-64242000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr2:64227200-64245400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:64227400-64235600	Weak transcription	Fetal Thymus	thymus
26	chr2:64228200-64239800	Weak transcription	Adipose Nuclei	Adipose
27	chr2:64228200-64243800	Weak transcription	Fetal Muscle Leg	muscle
28	chr2:64228600-64242600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr2:64228600-64243800	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr2:64228800-64239200	Weak transcription	Fetal Lung	lung
31	chr2:64228800-64242600	Weak transcription	Dnd41	blood
32	chr2:64229000-64242000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:64229000-64244800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:64229000-64245000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:64229200-64242400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr2:64229200-64242600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:64229200-64243000	Weak transcription	Thymus	Thymus
38	chr2:64229200-64243800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:64229200-64244800	Weak transcription	Fetal Intestine Small	intestine
40	chr2:64229400-64235600	Weak transcription	Right Atrium	heart
41	chr2:64229400-64235800	Weak transcription	Brain Anterior Caudate	brain
42	chr2:64229400-64238000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr2:64229400-64242400	Weak transcription	Primary T cells from cord blood	blood
44	chr2:64229400-64242600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:64229400-64243000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:64229400-64243000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr2:64229400-64243000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:64229400-64243000	Weak transcription	Ovary	ovary
49	chr2:64229400-64243000	Weak transcription	GM12878-XiMat	blood
50	chr2:64229400-64243000	Weak transcription	HMEC	breast

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