Variant report

Variant	rs2184540
Chromosome Location	chr9:93801208-93801209
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:93800066..93802604-chr9:93953362..93956016,2	MCF-7	breast:
2	chr9:93800619..93803174-chr9:94123561..94125235,2	K562	blood:
3	chr9:93799782..93801478-chr9:93805861..93808673,2	MCF-7	breast:
4	chr9:93797874..93801408-chr9:93805945..93809060,4	MCF-7	breast:
5	chr9:93798539..93802041-chr9:94184980..94187268,5	MCF-7	breast:
6	chr9:93798149..93802099-chr9:94185060..94188043,3	K562	blood:
7	chr9:93797668..93803133-chr9:94183972..94188624,9	MCF-7	breast:
8	chr9:93800096..93803076-chr9:93836959..93839834,2	K562	blood:
9	chr9:93752160..93754281-chr9:93798521..93801349,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000148090	Chromatin interaction
ENSG00000165030	Chromatin interaction
ENSG00000233081	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10761105	0.94[ASN][1000 genomes]
rs12236287	1.00[YRI][hapmap]
rs296641	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs7027785	0.83[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs7048338	0.91[ASN][1000 genomes]
rs7874712	0.91[ASN][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	esv3443359	chr9:93798631-93803029	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2184540	NXNL2	cis	cerebellum	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93798600-93802000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr9:93798600-93802400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:93799000-93802800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr9:93799200-93801400	Enhancers	Stomach Mucosa	stomach
5	chr9:93799200-93801600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr9:93799200-93801600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr9:93799200-93801800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr9:93799200-93803000	Enhancers	Ovary	ovary
9	chr9:93799400-93801400	Enhancers	Fetal Stomach	stomach
10	chr9:93799400-93801600	Enhancers	Gastric	stomach
11	chr9:93799400-93802000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr9:93799600-93802000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:93799800-93801600	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr9:93799800-93802000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr9:93800000-93801600	Enhancers	Fetal Brain Female	brain
16	chr9:93800400-93801400	Enhancers	Placenta Amnion	Placenta Amnion
17	chr9:93800400-93801600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr9:93800400-93801800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr9:93800600-93805600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr9:93800800-93801800	Enhancers	Stomach Smooth Muscle	stomach
21	chr9:93800800-93801800	Enhancers	A549	lung
22	chr9:93801000-93801400	Enhancers	Duodenum Mucosa	Duodenum
23	chr9:93801000-93801400	Flanking Active TSS	HepG2	liver
24	chr9:93801000-93801600	Enhancers	Hela-S3	cervix
25	chr9:93801000-93801800	Enhancers	NHLF	lung
26	chr9:93801000-93802000	Weak transcription	Esophagus	oesophagus
27	chr9:93801000-93802000	Enhancers	NHDF-Ad	bronchial
28	chr9:93801000-93802200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr9:93801000-93804200	Weak transcription	Fetal Heart	heart
30	chr9:93801000-93804400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr9:93801000-93807000	Weak transcription	Right Atrium	heart
32	chr9:93801200-93802000	Weak transcription	Lung	lung
33	chr9:93801200-93802600	Weak transcription	Fetal Lung	lung
34	chr9:93801200-93803000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr9:93801200-93803200	Weak transcription	Placenta	Placenta
36	chr9:93801200-93804600	Weak transcription	Colon Smooth Muscle	Colon

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