Variant report

Variant	rs13002530
Chromosome Location	chr2:169676751-169676752
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:169675392..169677475-chr2:169677807..169680088,2	K562	blood:
2	chr2:169675030..169679300-chr2:169679665..169684286,7	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1568550	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17200300	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3732031	0.91[ASN][1000 genomes]
rs830031	0.88[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	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

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169660000-169688200	Weak transcription	Placenta	Placenta
2	chr2:169661400-169676800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:169670000-169698000	Weak transcription	Stomach Mucosa	stomach
4	chr2:169670200-169690200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:169670600-169690800	Weak transcription	Fetal Stomach	stomach
6	chr2:169672600-169676800	Strong transcription	Fetal Intestine Small	intestine
7	chr2:169673000-169678400	Strong transcription	Fetal Intestine Large	intestine
8	chr2:169673400-169679000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:169673400-169683200	Weak transcription	Pancreas	Pancrea
10	chr2:169673400-169687600	Weak transcription	Right Ventricle	heart
11	chr2:169673400-169691600	Weak transcription	Colonic Mucosa	Colon
12	chr2:169673400-169692200	Weak transcription	Gastric	stomach
13	chr2:169675400-169677200	Enhancers	Fetal Heart	heart
14	chr2:169675600-169678800	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr2:169675800-169677000	Genic enhancers	Left Ventricle	heart
16	chr2:169676000-169677000	Genic enhancers	Lung	lung
17	chr2:169676000-169677800	Strong transcription	Duodenum Mucosa	Duodenum
18	chr2:169676200-169677000	Enhancers	Brain Angular Gyrus	brain
19	chr2:169676200-169677000	Enhancers	Brain Anterior Caudate	brain
20	chr2:169676200-169677000	Enhancers	Fetal Thymus	thymus
21	chr2:169676200-169677000	Enhancers	Right Atrium	heart
22	chr2:169676400-169676800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:169676400-169677600	Strong transcription	K562	blood
24	chr2:169676400-169687200	Weak transcription	Adipose Nuclei	Adipose
25	chr2:169676600-169677000	Enhancers	HMEC	breast
26	chr2:169676600-169679000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:169676600-169687400	Weak transcription	Fetal Muscle Leg	muscle
28	chr2:169676600-169704800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr2:169676600-169709600	Weak transcription	Fetal Muscle Trunk	muscle

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