Variant report

Variant	rs11893580
Chromosome Location	chr2:179609245-179609246
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179602765..179606051-chr2:179607318..179610882,3	K562	blood:

Variant related genes	Relation type
ENSG00000237298	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12622914	0.96[TSI][hapmap];0.85[EUR][1000 genomes]
rs12693164	1.00[ASW][hapmap];0.96[TSI][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12693166	0.92[ASW][hapmap];0.93[TSI][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12693167	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12997957	0.96[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13390491	1.00[ASW][hapmap];0.96[TSI][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1484118	0.88[CEU][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16866465	0.92[ASW][hapmap];0.96[TSI][hapmap];0.85[EUR][1000 genomes]
rs2129110	0.88[TSI][hapmap];0.81[EUR][1000 genomes]
rs2303828	0.80[TSI][hapmap]
rs2562834	0.83[TSI][hapmap]
rs4894042	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4894044	1.00[CEU][hapmap];0.80[GIH][hapmap];0.90[JPT][hapmap];0.85[MEX][hapmap];0.96[TSI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62178977	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62178978	0.83[EUR][1000 genomes]
rs6750145	0.89[TSI][hapmap];0.83[EUR][1000 genomes]
rs746578	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7559166	0.90[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:24 , 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	chr2:179533600-179669200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr2:179577800-179640800	Weak transcription	Fetal Intestine Large	intestine
5	chr2:179584200-179616200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr2:179585200-179615800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr2:179588200-179622800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr2:179590800-179640400	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr2:179598000-179614200	Weak transcription	Primary B cells from cord blood	blood
10	chr2:179598600-179622200	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr2:179600800-179616400	Weak transcription	Psoas Muscle	Psoas
12	chr2:179600800-179621200	Weak transcription	Pancreas	Pancrea
13	chr2:179603000-179610400	Weak transcription	Aorta	Aorta
14	chr2:179603200-179614800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr2:179603400-179612400	Weak transcription	Primary T cells from cord blood	blood
16	chr2:179605400-179662400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:179606000-179610200	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:179606200-179614600	Weak transcription	Right Ventricle	heart
19	chr2:179606400-179610200	Weak transcription	Fetal Heart	heart
20	chr2:179606400-179610400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr2:179606600-179609800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:179606600-179610200	Weak transcription	Left Ventricle	heart
23	chr2:179606600-179610400	Weak transcription	HSMMtube	muscle
24	chr2:179608600-179609600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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