Variant report

Variant	rs2742343
Chromosome Location	chr2:179569436-179569437
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 115 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs10171049	0.87[CHB][hapmap];0.80[CHD][hapmap];0.84[ASN][1000 genomes]
rs10930832	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs11902709	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12621078	0.87[EUR][1000 genomes]
rs12621108	0.83[EUR][1000 genomes]
rs1366677	0.87[EUR][1000 genomes]
rs1569407	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs16866497	0.93[CHB][hapmap];0.93[CHD][hapmap];0.87[ASN][1000 genomes]
rs1883084	0.97[ASN][1000 genomes]
rs1883085	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2243452	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs2243804	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2246932	0.87[EUR][1000 genomes]
rs2252350	0.87[EUR][1000 genomes]
rs2252353	1.00[CEU][hapmap]
rs2253324	0.93[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2255480	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2288563	1.00[CEU][hapmap]
rs2288566	1.00[CEU][hapmap]
rs2288568	0.96[EUR][1000 genomes]
rs2288570	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs2291304	0.80[ASN][1000 genomes]
rs2291305	0.80[ASN][1000 genomes]
rs2291308	0.86[CHD][hapmap]
rs2291310	0.80[CHB][hapmap]
rs2303829	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs2303831	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs2303832	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs2306636	0.86[CHD][hapmap]
rs2562829	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2562832	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2562833	0.94[ASN][1000 genomes]
rs2562835	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2562837	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2562841	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2562842	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2562843	0.87[EUR][1000 genomes]
rs2562844	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs2562846	0.96[EUR][1000 genomes]
rs2562849	1.00[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs2562850	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs2562851	0.87[EUR][1000 genomes]
rs2562852	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2562853	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2562854	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2627034	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2627037	1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2627039	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs2627040	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2627041	0.97[ASN][1000 genomes]
rs2627042	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2627044	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2742324	0.96[EUR][1000 genomes]
rs2742328	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2742329	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2742330	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2742332	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2742333	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2742334	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2742335	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2742336	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2742337	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2742339	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2742340	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2742341	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2742342	0.93[YRI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2742344	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2742345	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2742347	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2742350	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs2742352	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs2742353	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs2742354	1.00[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs2742355	0.87[EUR][1000 genomes]
rs2742356	0.87[EUR][1000 genomes]
rs2742357	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2742358	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs3731745	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs3754953	0.87[CHB][hapmap];0.84[ASN][1000 genomes]
rs3813245	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs3813246	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs3813247	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs4894037	0.87[CHB][hapmap];0.84[ASN][1000 genomes]
rs55639922	0.96[EUR][1000 genomes]
rs55658446	0.87[EUR][1000 genomes]
rs55675869	0.83[EUR][1000 genomes]
rs55706598	0.96[EUR][1000 genomes]
rs55847232	0.96[EUR][1000 genomes]
rs56018860	0.87[EUR][1000 genomes]
rs56101931	0.87[EUR][1000 genomes]
rs56120016	0.91[ASN][1000 genomes]
rs56214710	0.87[EUR][1000 genomes]
rs56285382	0.87[EUR][1000 genomes]
rs56352103	0.88[EUR][1000 genomes]
rs56372427	0.96[EUR][1000 genomes]
rs66677602	0.91[ASN][1000 genomes]
rs72629796	0.83[EUR][1000 genomes]
rs72629800	0.92[EUR][1000 genomes]
rs72646834	0.96[EUR][1000 genomes]
rs72646865	0.96[EUR][1000 genomes]
rs72646874	0.87[EUR][1000 genomes]
rs72647889	0.82[ASN][1000 genomes]
rs72648257	0.87[EUR][1000 genomes]
rs72648917	0.91[ASN][1000 genomes]
rs72650085	0.96[EUR][1000 genomes]
rs72677219	0.96[EUR][1000 genomes]
rs72677228	0.96[EUR][1000 genomes]
rs72677248	0.96[EUR][1000 genomes]
rs7585334	0.87[CHB][hapmap];0.84[ASN][1000 genomes]
rs7604033	0.80[CHB][hapmap]
rs922984	0.87[CHB][hapmap];0.84[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	esv2757841	chr2:179409072-179608242	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2759103	chr2:179409072-179608242	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv834470	chr2:179555152-179728726	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv934108	chr2:179556852-179729925	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179483200-179655400	Weak transcription	Adipose Nuclei	Adipose
2	chr2:179493000-179620800	Weak transcription	HSMM	muscle
3	chr2:179528200-179601200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:179529600-179600600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:179533600-179669200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr2:179534400-179576200	Weak transcription	Fetal Intestine Large	intestine
7	chr2:179538400-179591800	Weak transcription	Fetal Thymus	thymus
8	chr2:179540400-179586800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:179542600-179577000	Weak transcription	Right Ventricle	heart
10	chr2:179543200-179583400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr2:179543400-179596800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr2:179544800-179579600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr2:179545800-179586800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:179549400-179571200	Weak transcription	GM12878-XiMat	blood
15	chr2:179553400-179570800	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr2:179556800-179592200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr2:179560800-179570800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr2:179561800-179575200	Strong transcription	Fetal Heart	heart
19	chr2:179563000-179587400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:179564200-179575400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr2:179565000-179570200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
22	chr2:179565400-179600800	Weak transcription	Thymus	Thymus
23	chr2:179566000-179591000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr2:179566800-179570000	Strong transcription	Primary T cells from cord blood	blood
25	chr2:179567400-179569600	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr2:179567400-179570800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr2:179568400-179594000	Strong transcription	Left Ventricle	heart
28	chr2:179568400-179603400	Strong transcription	HSMMtube	muscle
29	chr2:179568600-179572000	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr2:179568600-179573200	Strong transcription	Primary B cells from cord blood	blood
31	chr2:179568600-179576200	Strong transcription	Primary B cells from peripheral blood	blood
32	chr2:179568800-179570000	Strong transcription	Pancreas	Pancrea
33	chr2:179568800-179596200	Strong transcription	Fetal Muscle Leg	muscle
34	chr2:179569200-179570800	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr2:179569200-179576200	Weak transcription	Brain Substantia Nigra	brain
36	chr2:179569400-179576800	Weak transcription	Psoas Muscle	Psoas
37	chr2:179569400-179589800	Weak transcription	Lung	lung

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