Variant report

Variant	rs549582
Chromosome Location	chr2:169690089-169690090
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:169653689..169656123-chr2:169689883..169693287,3	K562	blood:
2	chr2:169682202..169684023-chr2:169687028..169690817,4	K562	blood:
3	chr2:169688344..169690142-chr2:169691245..169693238,2	K562	blood:
4	chr2:169685233..169691832-chr2:169692007..169697159,7	K562	blood:

Variant related genes	Relation type
ENSG00000163072	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17265731	0.80[CEU][hapmap]
rs17265949	0.80[CEU][hapmap]
rs2433681	0.80[CEU][hapmap]
rs2461385	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs494120	0.80[CEU][hapmap]
rs519599	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs551037	0.80[CEU][hapmap]
rs572411	1.00[CHB][hapmap];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv875381	chr2:169686559-169749841	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs549582	DYNC1I2	cis	cerebellum	SCAN
rs549582	COBLL1	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169670000-169698000	Weak transcription	Stomach Mucosa	stomach
2	chr2:169670200-169690200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:169670600-169690800	Weak transcription	Fetal Stomach	stomach
4	chr2:169673400-169691600	Weak transcription	Colonic Mucosa	Colon
5	chr2:169673400-169692200	Weak transcription	Gastric	stomach
6	chr2:169676600-169704800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:169676600-169709600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:169682000-169693600	Strong transcription	Rectal Mucosa Donor 31	rectum
9	chr2:169682200-169695000	Weak transcription	Small Intestine	intestine
10	chr2:169683400-169717600	Weak transcription	Ovary	ovary
11	chr2:169684200-169690200	Weak transcription	Pancreas	Pancrea
12	chr2:169685600-169694200	Strong transcription	Duodenum Mucosa	Duodenum
13	chr2:169686000-169691200	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr2:169686000-169693600	Strong transcription	K562	blood
15	chr2:169687800-169692800	Weak transcription	Right Ventricle	heart
16	chr2:169688000-169691800	Weak transcription	Left Ventricle	heart
17	chr2:169688000-169693400	Strong transcription	Adipose Nuclei	Adipose
18	chr2:169688000-169705800	Weak transcription	Psoas Muscle	Psoas
19	chr2:169688000-169710600	Weak transcription	Fetal Muscle Leg	muscle
20	chr2:169688200-169690800	Strong transcription	Placenta	Placenta
21	chr2:169688200-169695400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr2:169688400-169692600	Weak transcription	Lung	lung
23	chr2:169689000-169690400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr2:169689000-169691800	Weak transcription	Fetal Intestine Large	intestine
25	chr2:169689000-169721800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr2:169689200-169694200	Strong transcription	Fetal Intestine Small	intestine

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