Variant report

Variant	rs511013
Chromosome Location	chr2:169683927-169683928
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:169675030..169679300-chr2:169679665..169684286,7	K562	blood:
2	chr2:169682202..169684023-chr2:169687028..169690817,4	K562	blood:
3	chr2:169652956..169655199-chr2:169682402..169685381,2	K562	blood:

Variant related genes	Relation type
ENSG00000163072	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10198235	1.00[JPT][hapmap]
rs10198693	1.00[JPT][hapmap]
rs17265731	1.00[CHB][hapmap]
rs17265949	1.00[CHB][hapmap]
rs2461362	1.00[CHB][hapmap]
rs487756	0.81[CEU][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs494120	1.00[CHB][hapmap]
rs551037	1.00[CHB][hapmap]
rs6433093	1.00[CHB][hapmap]
rs829955	1.00[CHB][hapmap]

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	nsv915920	chr2:168851960-169696591	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv583599	chr2:169664227-169903096	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs511013	SPC25	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169660000-169688200	Weak transcription	Placenta	Placenta
2	chr2:169670000-169698000	Weak transcription	Stomach Mucosa	stomach
3	chr2:169670200-169690200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:169670600-169690800	Weak transcription	Fetal Stomach	stomach
5	chr2:169673400-169687600	Weak transcription	Right Ventricle	heart
6	chr2:169673400-169691600	Weak transcription	Colonic Mucosa	Colon
7	chr2:169673400-169692200	Weak transcription	Gastric	stomach
8	chr2:169676400-169687200	Weak transcription	Adipose Nuclei	Adipose
9	chr2:169676600-169687400	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:169676600-169704800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:169676600-169709600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr2:169677000-169686000	Weak transcription	Left Ventricle	heart
13	chr2:169678400-169686000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr2:169682000-169684600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr2:169682000-169693600	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr2:169682200-169695000	Weak transcription	Small Intestine	intestine
17	chr2:169682400-169685200	Strong transcription	K562	blood
18	chr2:169683200-169684200	Strong transcription	Pancreas	Pancrea
19	chr2:169683400-169717600	Weak transcription	Ovary	ovary
20	chr2:169683600-169684200	Genic enhancers	Fetal Intestine Small	intestine
21	chr2:169683600-169684400	Enhancers	Fetal Intestine Large	intestine
22	chr2:169683600-169685000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:169683800-169684000	Strong transcription	Lung	lung

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