Variant report

Variant	rs2287361
Chromosome Location	chr2:64117640-64117641
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:64108472..64110999-chr2:64116518..64118075,2	K562	blood:
2	chr2:64116985..64119241-chr2:64121510..64125671,3	K562	blood:
3	chr2:64101796..64104187-chr2:64117437..64118984,2	MCF-7	breast:
4	chr2:64115192..64117886-chr2:64118727..64121614,2	MCF-7	breast:
5	chr2:63814363..63816642-chr2:64115803..64118315,3	MCF-7	breast:
6	chr2:64067276..64069517-chr2:64115717..64120116,4	K562	blood:

Variant related genes	Relation type
ENSG00000014641	Chromatin interaction
ENSG00000143951	Chromatin interaction
ENSG00000169764	Chromatin interaction
ENSG00000251775	Chromatin interaction

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];0.94[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10175674	0.89[CHB][hapmap]
rs12463827	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12466966	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12468093	0.84[EUR][1000 genomes]
rs12474366	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12475294	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12988017	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12990604	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12993544	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12997303	0.85[EUR][1000 genomes]
rs12999675	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13005218	0.85[EUR][1000 genomes]
rs13007342	0.85[EUR][1000 genomes]
rs13007731	0.85[EUR][1000 genomes]
rs13009774	1.00[ASW][hapmap];0.95[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];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13010817	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13014781	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13023542	0.90[EUR][1000 genomes]
rs13025640	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13028805	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13034260	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1345479	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1437455	0.86[EUR][1000 genomes]
rs1545196	0.85[EUR][1000 genomes]
rs17555655	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17562312	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17620012	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17701685	0.87[EUR][1000 genomes]
rs17701709	0.87[EUR][1000 genomes]
rs17752683	0.86[EUR][1000 genomes]
rs2422110	0.81[EUR][1000 genomes]
rs34043307	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34145077	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34196086	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34200806	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34239752	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34512058	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34900788	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35058898	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35122209	0.85[EUR][1000 genomes]
rs35247801	0.85[EUR][1000 genomes]
rs35253921	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35521527	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35552326	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35648996	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35810427	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35972278	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35975566	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36099158	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3815616	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3934536	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4075010	0.87[EUR][1000 genomes]
rs4482470	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4544421	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4599090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4671072	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4671534	0.93[ASN][1000 genomes]
rs4671535	1.00[ASW][hapmap];1.00[CHB][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4671537	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4671538	0.86[EUR][1000 genomes]
rs66476638	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66535980	0.87[EUR][1000 genomes]
rs66595136	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66650505	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66660401	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66993685	0.86[EUR][1000 genomes]
rs6730664	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67366434	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67962955	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71422402	0.84[EUR][1000 genomes]
rs72808216	0.88[EUR][1000 genomes]
rs72808218	0.85[EUR][1000 genomes]
rs72808231	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72808236	0.86[ASN][1000 genomes]
rs72808248	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72808254	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72808262	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72808287	0.85[EUR][1000 genomes]
rs874695	0.84[EUR][1000 genomes]
rs893779	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];0.82[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	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64083000-64123000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:64083000-64129200	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr2:64103600-64118600	Weak transcription	Brain Angular Gyrus	brain
4	chr2:64103600-64128400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:64103800-64130400	Weak transcription	Stomach Mucosa	stomach
6	chr2:64105200-64121600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:64105600-64118400	Strong transcription	HepG2	liver
8	chr2:64107200-64130000	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr2:64107400-64119000	Strong transcription	HSMMtube	muscle
10	chr2:64107400-64119200	Strong transcription	Primary B cells from cord blood	blood
11	chr2:64107400-64121400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:64107400-64121800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:64107400-64127600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr2:64107400-64129600	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr2:64107600-64122000	Strong transcription	HSMM	muscle
16	chr2:64107600-64122200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:64107600-64122200	Strong transcription	Primary B cells from peripheral blood	blood
18	chr2:64107600-64122200	Strong transcription	Muscle Satellite Cultured Cells	--
19	chr2:64107600-64128800	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr2:64107600-64129200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:64107800-64118800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:64107800-64124600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:64107800-64126200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:64107800-64127000	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr2:64108000-64118600	Strong transcription	A549	lung
26	chr2:64108200-64120800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
27	chr2:64108200-64121800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:64108200-64127200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:64108400-64121400	Strong transcription	HMEC	breast
30	chr2:64108400-64127200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:64108600-64128200	Strong transcription	Primary hematopoietic stem cells	blood
32	chr2:64108800-64121400	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr2:64108800-64121400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:64108800-64121800	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr2:64109000-64122200	Strong transcription	NHDF-Ad	bronchial
36	chr2:64109200-64125800	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr2:64109400-64119000	Strong transcription	Fetal Intestine Large	intestine
38	chr2:64109400-64119600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr2:64109400-64127000	Strong transcription	Placenta	Placenta
40	chr2:64109400-64129000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr2:64109600-64119600	Strong transcription	Thymus	Thymus
42	chr2:64109600-64119800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr2:64109600-64120600	Strong transcription	GM12878-XiMat	blood
44	chr2:64109600-64122800	Strong transcription	Fetal Muscle Trunk	muscle
45	chr2:64109600-64127000	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr2:64109600-64128400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:64109800-64121400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr2:64109800-64122800	Strong transcription	Osteobl	bone
49	chr2:64109800-64128600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:64110000-64117800	Strong transcription	Rectal Smooth Muscle	rectum

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