Variant report

Variant	rs17043992
Chromosome Location	chr1:216993382-216993383
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10492955	1.00[EUR][1000 genomes]
rs1126020	1.00[EUR][1000 genomes]
rs12088511	1.00[EUR][1000 genomes]
rs12095308	1.00[EUR][1000 genomes]
rs12095404	1.00[EUR][1000 genomes]
rs1865919	1.00[EUR][1000 genomes]
rs2813697	1.00[EUR][1000 genomes]
rs2813698	1.00[EUR][1000 genomes]
rs2818749	1.00[EUR][1000 genomes]
rs2818750	1.00[EUR][1000 genomes]
rs55879758	1.00[EUR][1000 genomes]
rs73093969	1.00[EUR][1000 genomes]
rs74141644	1.00[EUR][1000 genomes]
rs7515296	1.00[EUR][1000 genomes]
rs7529981	1.00[EUR][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	esv2762163	chr1:216982140-217015625	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17043992	ADAM23	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216988000-216997200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:216989000-217005800	Weak transcription	Left Ventricle	heart
3	chr1:216989400-216998200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:216989600-216993600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:216989600-216993800	Weak transcription	Fetal Intestine Small	intestine
6	chr1:216989600-216993800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:216989600-216994000	Weak transcription	Fetal Intestine Large	intestine
8	chr1:216989600-216997800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:216989600-216998000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:216989600-217000600	Weak transcription	Psoas Muscle	Psoas
11	chr1:216989800-216993800	Weak transcription	Fetal Kidney	kidney
12	chr1:216990000-216994000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:216990000-216998000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:216992200-216994400	Weak transcription	Fetal Muscle Leg	muscle
15	chr1:216992400-216994600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr1:216992400-216996800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr1:216992600-216993600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr1:216992600-216994200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr1:216992600-216994200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr1:216992600-216994200	Enhancers	Fetal Brain Male	brain
21	chr1:216992800-216994200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr1:216993000-216993400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:216993000-216994800	Enhancers	Fetal Heart	heart
24	chr1:216993200-216993400	Enhancers	Small Intestine	intestine
25	chr1:216993200-216994400	Enhancers	HSMMtube	muscle
26	chr1:216993200-216995200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:216993200-216995800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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