Variant report

Variant	rs518337
Chromosome Location	chr2:169699350-169699351
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:169697974-169701080	K562	blood:	n/a	n/a

Variant related genes	Relation type
NOSTRIN	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs2177076	0.81[EUR][1000 genomes]
rs2947934	0.86[EUR][1000 genomes]
rs36083800	0.94[EUR][1000 genomes]
rs472233	0.92[EUR][1000 genomes]
rs474538	0.94[EUR][1000 genomes]
rs474751	0.82[EUR][1000 genomes]
rs481067	0.92[ASN][1000 genomes]
rs488621	0.80[ASN][1000 genomes]
rs495074	0.91[ASN][1000 genomes]
rs497808	0.80[ASN][1000 genomes]
rs501303	0.81[EUR][1000 genomes]
rs503664	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs505283	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs508423	0.82[EUR][1000 genomes]
rs522893	0.92[EUR][1000 genomes]
rs526418	0.99[ASN][1000 genomes]
rs527393	0.80[ASN][1000 genomes]
rs531328	1.00[ASN][1000 genomes]
rs540652	0.80[ASN][1000 genomes]
rs552445	0.92[EUR][1000 genomes]
rs559113	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs560952	0.81[ASN][1000 genomes]
rs578797	0.82[EUR][1000 genomes]
rs830020	0.82[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs830194	0.91[EUR][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	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
2	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
rs518337	SPC25	Cis_1M	lymphoblastoid	RTeQTL
rs518337	C2orf77	cis	brain	BrainEAC

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169676600-169704800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr2:169676600-169709600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr2:169683400-169717600	Weak transcription	Ovary	ovary
4	chr2:169688000-169705800	Weak transcription	Psoas Muscle	Psoas
5	chr2:169688000-169710600	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:169689000-169721800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:169692000-169708400	Weak transcription	Colonic Mucosa	Colon
8	chr2:169693200-169707600	Weak transcription	Left Ventricle	heart
9	chr2:169693200-169708400	Weak transcription	Placenta	Placenta
10	chr2:169693400-169699600	Weak transcription	Adipose Nuclei	Adipose
11	chr2:169693400-169721400	Weak transcription	Spleen	Spleen
12	chr2:169693600-169699400	Weak transcription	K562	blood
13	chr2:169693600-169703200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:169693600-169707600	Weak transcription	Gastric	stomach
15	chr2:169693600-169711200	Weak transcription	Lung	lung
16	chr2:169693600-169721400	Weak transcription	Right Ventricle	heart
17	chr2:169693800-169699600	Weak transcription	Pancreas	Pancrea
18	chr2:169693800-169706800	Weak transcription	Fetal Intestine Large	intestine
19	chr2:169694200-169701600	Weak transcription	Fetal Intestine Small	intestine
20	chr2:169694200-169708200	Weak transcription	Fetal Stomach	stomach
21	chr2:169696800-169699400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr2:169698000-169700400	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr2:169698400-169713000	Weak transcription	Fetal Heart	heart
24	chr2:169698400-169721200	Weak transcription	Stomach Mucosa	stomach
25	chr2:169698600-169744600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:169699000-169706200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:169699200-169700200	Strong transcription	Rectal Mucosa Donor 31	rectum

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