Variant report

Variant	rs4672032
Chromosome Location	chr2:55632329-55632330
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:55629189..55632200-chr2:55632234..55637417,4	K562	blood:

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10169185	0.86[ASN][1000 genomes]
rs10182704	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10184756	1.00[CEU][hapmap];0.84[CHB][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10195081	0.81[AFR][1000 genomes]
rs10198652	0.83[CHB][hapmap]
rs10454144	0.88[EUR][1000 genomes]
rs11125565	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11125566	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11125568	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[ASN][1000 genomes]
rs11125569	0.94[CHB][hapmap];0.93[JPT][hapmap];0.99[ASN][1000 genomes]
rs11695152	0.87[ASN][1000 genomes]
rs12612806	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12617891	0.82[CEU][hapmap];0.83[CHB][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12618795	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12623954	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13394864	0.83[YRI][hapmap]
rs13416912	0.84[EUR][1000 genomes]
rs1454420	0.93[EUR][1000 genomes]
rs1454423	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1454424	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1545554	0.82[CEU][hapmap];0.83[CHB][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1598163	0.83[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs17735450	1.00[CEU][hapmap]
rs1902056	0.88[CHB][hapmap];0.93[EUR][1000 genomes]
rs1902057	0.82[CEU][hapmap];0.88[CHB][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1902058	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2045132	0.82[CEU][hapmap];0.89[CHB][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2045133	0.93[EUR][1000 genomes]
rs2100454	0.86[ASN][1000 genomes]
rs2123983	0.82[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2219130	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2576688	0.88[CHB][hapmap];0.90[EUR][1000 genomes]
rs2576703	0.82[CEU][hapmap];0.84[CHB][hapmap];0.90[EUR][1000 genomes]
rs2589057	0.88[CHB][hapmap];0.90[EUR][1000 genomes]
rs2589068	0.88[CHB][hapmap];0.90[EUR][1000 genomes]
rs2589069	0.88[CHB][hapmap];0.90[EUR][1000 genomes]
rs2589070	0.82[CEU][hapmap];0.84[CHB][hapmap];0.90[EUR][1000 genomes]
rs2589078	0.89[CHB][hapmap];0.90[EUR][1000 genomes]
rs2589079	0.90[EUR][1000 genomes]
rs2589104	0.90[EUR][1000 genomes]
rs28501559	0.84[ASN][1000 genomes]
rs2864831	0.82[CEU][hapmap];0.84[CHB][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2864832	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2867173	0.90[EUR][1000 genomes]
rs2867178	0.82[CEU][hapmap];0.82[CHB][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2867179	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2867194	0.82[CEU][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2902857	0.82[CEU][hapmap];0.84[CHB][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2903507	0.93[EUR][1000 genomes]
rs2903509	1.00[CEU][hapmap];0.84[CHB][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2903514	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2917777	0.82[CEU][hapmap];0.84[CHB][hapmap];0.90[EUR][1000 genomes]
rs2920963	0.82[CHB][hapmap]
rs2920970	0.82[CEU][hapmap];0.84[CHB][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2966466	0.82[CEU][hapmap];0.84[CHB][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3099080	0.83[CHB][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3099081	0.82[CEU][hapmap];0.87[CHB][hapmap];0.90[EUR][1000 genomes]
rs3099083	0.82[CEU][hapmap];0.89[CHB][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3111408	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3111409	0.95[EUR][1000 genomes]
rs3748943	0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3762511	0.93[EUR][1000 genomes]
rs3974263	0.90[EUR][1000 genomes]
rs4233960	0.82[CEU][hapmap];0.84[CHB][hapmap];0.90[EUR][1000 genomes]
rs4233961	0.82[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4352263	0.92[ASN][1000 genomes]
rs4481025	0.82[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4535081	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4672033	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4672034	1.00[ASN][1000 genomes]
rs4672035	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[ASN][1000 genomes]
rs4672036	0.82[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4672037	0.82[CEU][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4672038	0.82[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4672041	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4672045	0.86[ASN][1000 genomes]
rs56225989	0.87[ASN][1000 genomes]
rs59634508	0.90[EUR][1000 genomes]
rs61157332	0.90[EUR][1000 genomes]
rs6545489	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6545490	0.82[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6545491	0.82[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6709204	0.82[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6710192	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6718031	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6718909	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6721593	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs6724840	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6725968	0.82[CEU][hapmap];0.84[CHB][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6729490	0.83[AFR][1000 genomes]
rs6732633	0.92[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs6732759	0.93[EUR][1000 genomes]
rs6744426	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6748979	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72924907	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7557555	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7557956	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7559987	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[ASN][1000 genomes]
rs7586440	0.82[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7589279	0.88[CHB][hapmap]
rs7595396	0.86[ASN][1000 genomes]
rs7601340	0.87[ASN][1000 genomes]
rs7601588	0.82[CEU][hapmap];0.83[CHB][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7606361	0.82[CEU][hapmap];0.83[CHB][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][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	nsv874156	chr2:55474026-55636351	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv874159	chr2:55513738-55636351	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1006170	chr2:55530179-55809251	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv520581	chr2:55622825-55903016	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats 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	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55542400-55644800	Weak transcription	Primary T cells from cord blood	blood
2	chr2:55555200-55635800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:55579200-55640800	Weak transcription	Fetal Brain Male	brain
4	chr2:55579400-55644400	Weak transcription	Primary B cells from cord blood	blood
5	chr2:55582000-55632400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:55589400-55639400	Weak transcription	Aorta	Aorta
7	chr2:55591000-55646000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:55592000-55635400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:55592800-55635600	Weak transcription	HSMMtube	muscle
10	chr2:55593200-55632600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:55601800-55644600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:55616600-55635400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:55616600-55635400	Weak transcription	HMEC	breast
14	chr2:55616800-55642600	Weak transcription	HUVEC	blood vessel
15	chr2:55618200-55635200	Weak transcription	Psoas Muscle	Psoas
16	chr2:55618200-55639400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:55618200-55642400	Weak transcription	Fetal Lung	lung
18	chr2:55618600-55636000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr2:55619200-55636800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:55623000-55635600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr2:55623200-55644400	Weak transcription	Fetal Kidney	kidney
22	chr2:55624200-55635600	Weak transcription	NHEK	skin
23	chr2:55624400-55645600	Weak transcription	Ovary	ovary
24	chr2:55624600-55632600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr2:55627800-55636000	Weak transcription	NHDF-Ad	bronchial
26	chr2:55628200-55633000	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr2:55628600-55632600	Weak transcription	Fetal Intestine Small	intestine
28	chr2:55628600-55646000	Weak transcription	Esophagus	oesophagus
29	chr2:55629000-55634400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:55629000-55635600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr2:55629400-55633000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:55629400-55633800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:55629400-55634400	Strong transcription	Fetal Thymus	thymus
34	chr2:55629600-55633000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr2:55629600-55633800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:55629600-55633800	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr2:55629600-55634200	Strong transcription	Dnd41	blood
38	chr2:55629600-55636200	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr2:55630200-55632600	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr2:55630200-55634000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:55630200-55634200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:55630200-55634200	Enhancers	Brain Substantia Nigra	brain
43	chr2:55630200-55634800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr2:55630400-55632400	Enhancers	Brain Anterior Caudate	brain
45	chr2:55630400-55632800	Strong transcription	HSMM	muscle
46	chr2:55630400-55633000	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr2:55630400-55634200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:55630400-55645800	Weak transcription	Primary B cells from peripheral blood	blood
49	chr2:55630600-55633600	Strong transcription	Osteobl	bone
50	chr2:55630600-55644200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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