Variant report

Variant	rs578011
Chromosome Location	chr2:30930803-30930804
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30883151..30886759-chr2:30927667..30934469,9	K562	blood:
2	chr2:30883186..30886745-chr2:30927667..30931555,5	K562	blood:
3	chr2:30907737..30909883-chr2:30930032..30931732,2	MCF-7	breast:
4	chr2:30929088..30931580-chr2:30932905..30934647,2	K562	blood:
5	chr2:30429295..30431527-chr2:30928189..30930865,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1252298	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2593434	0.90[CHB][hapmap]
rs485243	0.86[EUR][1000 genomes]
rs497707	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs514940	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs528264	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs528514	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs537833	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs540977	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs543134	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs544395	0.85[CEU][hapmap];0.85[MEX][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs546467	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs547360	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs566241	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs935984	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30902400-30954000	Weak transcription	Gastric	stomach
2	chr2:30926600-30935800	Weak transcription	Primary B cells from cord blood	blood
3	chr2:30926800-30934800	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr2:30928000-30931400	Weak transcription	NHLF	lung
5	chr2:30928800-30931600	Weak transcription	Right Ventricle	heart
6	chr2:30928800-30932000	Weak transcription	Right Atrium	heart
7	chr2:30929400-30931400	Weak transcription	Aorta	Aorta
8	chr2:30930000-30931200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:30930000-30931200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:30930000-30931200	Weak transcription	Fetal Muscle Leg	muscle
11	chr2:30930000-30931200	Weak transcription	Fetal Stomach	stomach
12	chr2:30930000-30931400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:30930000-30931400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:30930000-30932400	Weak transcription	Left Ventricle	heart
15	chr2:30930000-30934200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:30930000-30934400	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr2:30930000-30936800	Weak transcription	Primary B cells from peripheral blood	blood
18	chr2:30930000-30936800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:30930000-30936800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr2:30930000-30936800	Weak transcription	Osteobl	bone
21	chr2:30930200-30931200	Weak transcription	NHDF-Ad	bronchial
22	chr2:30930800-30931200	Weak transcription	Fetal Heart	heart

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