Variant report

Variant	rs2291312
Chromosome Location	chr2:179631214-179631215
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10171049	0.86[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10221590	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs10497522	0.82[YRI][hapmap]
rs11895382	0.86[ASW][hapmap];0.84[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs12464703	0.93[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs12465449	0.84[AMR][1000 genomes]
rs12470905	0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12476289	0.80[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs13421990	0.81[GIH][hapmap]
rs1484120	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs16866497	0.80[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs16866519	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs16866532	0.93[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs2054708	1.00[CEU][hapmap];0.85[GIH][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes]
rs2291304	0.93[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs2291305	0.92[ASN][1000 genomes]
rs2291308	0.93[CHB][hapmap];0.83[CHD][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs2291309	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2291310	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2291311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2306636	0.93[CHB][hapmap];0.83[CHD][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs2627037	0.89[CEU][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2627042	0.88[CHD][hapmap];0.82[GIH][hapmap]
rs2742345	0.88[CHD][hapmap]
rs3754953	1.00[CEU][hapmap];0.87[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4893853	1.00[ASW][hapmap];0.84[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs4894037	0.86[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4894040	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs4894041	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs4894045	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs4894048	0.81[GIH][hapmap]
rs55863869	0.91[ASN][1000 genomes]
rs56120016	0.85[ASN][1000 genomes]
rs56142888	0.91[ASN][1000 genomes]
rs66677602	0.85[ASN][1000 genomes]
rs72647887	0.94[AFR][1000 genomes]
rs72647888	0.94[AFR][1000 genomes]
rs72647889	0.94[ASN][1000 genomes]
rs72648917	0.85[ASN][1000 genomes]
rs7423101	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7585334	1.00[CEU][hapmap];0.87[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7604033	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs922984	1.00[CEU][hapmap];0.87[CHB][hapmap];0.93[JPT][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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	chr2:179533600-179669200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr2:179577800-179640800	Weak transcription	Fetal Intestine Large	intestine
4	chr2:179590800-179640400	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr2:179605400-179662400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:179610800-179671400	Weak transcription	Ovary	ovary
7	chr2:179614200-179645200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr2:179614400-179632400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:179619000-179636000	Strong transcription	Left Ventricle	heart
10	chr2:179620600-179634400	Weak transcription	Brain Anterior Caudate	brain
11	chr2:179622600-179640600	Weak transcription	Pancreas	Pancrea
12	chr2:179627000-179655200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:179627400-179636000	Weak transcription	Lung	lung
14	chr2:179627400-179653200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr2:179627600-179631400	Strong transcription	Primary B cells from cord blood	blood
16	chr2:179627600-179639200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr2:179627600-179652600	Weak transcription	Brain Substantia Nigra	brain
18	chr2:179627600-179663800	Weak transcription	Thymus	Thymus
19	chr2:179627800-179632400	Strong transcription	Psoas Muscle	Psoas
20	chr2:179628000-179636400	Strong transcription	Primary T cells from cord blood	blood
21	chr2:179628000-179638600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
22	chr2:179629000-179636200	Genic enhancers	Fetal Heart	heart
23	chr2:179629200-179631400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
24	chr2:179629600-179632000	Weak transcription	Fetal Thymus	thymus
25	chr2:179629600-179666200	Weak transcription	GM12878-XiMat	blood
26	chr2:179629800-179631800	Strong transcription	HSMMtube	muscle
27	chr2:179630600-179632400	Weak transcription	Primary B cells from peripheral blood	blood
28	chr2:179630600-179651000	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr2:179630800-179632000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr2:179630800-179632000	Strong transcription	Fetal Muscle Leg	muscle
31	chr2:179630800-179632000	Weak transcription	HSMM	muscle
32	chr2:179630800-179640800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:179631000-179631600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr2:179631200-179632200	Weak transcription	Right Ventricle	heart
35	chr2:179631200-179633000	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr2:179631200-179634800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr2:179631200-179649800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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