Variant report

Variant	rs13014781
Chromosome Location	chr2:64244142-64244143
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:64243174..64244724-chr2:64244885..64246414,2	K562	blood:
2	chr2:64241698..64244802-chr2:64245150..64248810,6	MCF-7	breast:
3	chr2:64234313..64237072-chr2:64243615..64245579,2	MCF-7	breast:
4	chr2:64238078..64240765-chr2:64241757..64244633,2	K562	blood:
5	chr2:64236322..64240765-chr2:64241571..64244633,4	K562	blood:
6	chr2:64242543..64244844-chr2:64248879..64250453,2	K562	blood:
7	chr2:64241763..64244810-chr2:64244833..64246626,3	K562	blood:

Variant related genes	Relation type
ENSG00000143952	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10166971	0.82[ASN][1000 genomes]
rs10190776	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12463827	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12466966	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12468093	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12475294	0.90[EUR][1000 genomes]
rs12988017	0.84[EUR][1000 genomes]
rs12990604	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12993544	0.88[EUR][1000 genomes]
rs12996147	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12997303	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12999675	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13005218	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13007342	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13007731	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13009774	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13010817	0.86[EUR][1000 genomes]
rs13015703	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13023542	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13025640	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13028805	0.84[EUR][1000 genomes]
rs13034260	0.90[EUR][1000 genomes]
rs1345479	0.89[EUR][1000 genomes]
rs1437455	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1545196	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17555655	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17562312	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17620012	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17701685	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17701709	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17752683	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2002443	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2119133	0.81[ASN][1000 genomes]
rs2287361	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2422110	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2422111	0.81[AMR][1000 genomes]
rs34043307	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34145077	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34196086	0.82[ASN][1000 genomes]
rs34200806	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34239752	0.84[EUR][1000 genomes]
rs34512058	0.90[EUR][1000 genomes]
rs34683043	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34700615	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35058898	0.84[EUR][1000 genomes]
rs35122209	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35247801	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35521527	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35552326	0.83[EUR][1000 genomes]
rs35648996	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35693031	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35810427	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35939512	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35972278	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35975566	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36085609	0.81[ASN][1000 genomes]
rs36099158	0.84[EUR][1000 genomes]
rs3815616	0.89[EUR][1000 genomes]
rs3934536	0.88[EUR][1000 genomes]
rs4482470	0.89[EUR][1000 genomes]
rs4485552	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4544421	0.90[EUR][1000 genomes]
rs4599090	0.90[EUR][1000 genomes]
rs4671072	0.86[EUR][1000 genomes]
rs4671537	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4671538	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4671540	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4671541	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66476638	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66535980	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66595136	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66650505	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66660401	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66993685	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67366434	0.84[EUR][1000 genomes]
rs6759803	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67962955	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71422402	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72808216	0.81[EUR][1000 genomes]
rs72808231	0.90[EUR][1000 genomes]
rs72808248	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72808254	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72808262	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72808287	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72808296	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs874695	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs893779	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][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	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	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
3	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:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64185800-64245000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:64209400-64244800	Weak transcription	HSMM	muscle
3	chr2:64213800-64244600	Weak transcription	HUVEC	blood vessel
4	chr2:64226000-64245000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr2:64226200-64245000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:64226200-64245000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:64227000-64244600	Weak transcription	Fetal Brain Female	brain
8	chr2:64227200-64245400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:64229000-64244800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:64229000-64245000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:64229200-64244800	Weak transcription	Fetal Intestine Small	intestine
12	chr2:64229400-64244400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:64229400-64244800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:64229400-64244800	Weak transcription	Fetal Stomach	stomach
15	chr2:64229400-64244800	Weak transcription	Right Ventricle	heart
16	chr2:64229400-64245400	Weak transcription	Pancreas	Pancrea
17	chr2:64231600-64244600	Weak transcription	Osteobl	bone
18	chr2:64231800-64244600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:64236400-64244600	Weak transcription	Liver	Liver
20	chr2:64238400-64244800	Weak transcription	NH-A	brain
21	chr2:64240000-64244400	Weak transcription	Fetal Heart	heart
22	chr2:64240400-64244400	Weak transcription	Fetal Lung	lung
23	chr2:64241600-64244800	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr2:64241800-64245000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:64242200-64244800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr2:64242400-64244600	Enhancers	Adipose Nuclei	Adipose
27	chr2:64242400-64244600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr2:64242400-64245000	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr2:64242600-64244400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:64242600-64244600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr2:64242600-64244600	Enhancers	Colon Smooth Muscle	Colon
32	chr2:64242600-64244600	Enhancers	Psoas Muscle	Psoas
33	chr2:64242600-64244800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr2:64242600-64244800	Enhancers	Rectal Smooth Muscle	rectum
35	chr2:64242600-64244800	Enhancers	Hela-S3	cervix
36	chr2:64242600-64245000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr2:64242800-64244600	Weak transcription	Primary B cells from cord blood	blood
38	chr2:64242800-64244800	Weak transcription	Right Atrium	heart
39	chr2:64242800-64245200	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr2:64243000-64244200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:64243000-64244400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:64243000-64244600	Enhancers	Left Ventricle	heart
43	chr2:64243000-64244600	Enhancers	A549	lung
44	chr2:64243000-64244800	Weak transcription	Primary T cells from cord blood	blood
45	chr2:64243000-64246800	Active TSS	GM12878-XiMat	blood
46	chr2:64243200-64244200	Weak transcription	Small Intestine	intestine
47	chr2:64243200-64244400	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr2:64243200-64244600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr2:64243200-64244800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr2:64243200-64244800	Weak transcription	Brain Hippocampus Middle	brain

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