Variant report

Variant	rs590142
Chromosome Location	chr10:27538942-27538943
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:27442115..27444569-chr10:27537853..27541412,3	K562	blood:
2	chr10:27529521..27534854-chr10:27538591..27544292,11	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACBD5-1	chr10:27534782-27541235	NR_003525

Variant related genes	Relation type
ENSG00000262412	Chromatin interaction
ENSG00000120539	Chromatin interaction
ENSG00000136758	Chromatin interaction
ENSG00000107897	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1144509	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12763511	0.83[EUR][1000 genomes]
rs12772875	0.82[EUR][1000 genomes]
rs1618826	0.82[EUR][1000 genomes]
rs1753387	0.83[EUR][1000 genomes]
rs1753394	0.80[EUR][1000 genomes]
rs1775348	0.83[EUR][1000 genomes]
rs1775354	0.83[EUR][1000 genomes]
rs1974364	0.83[EUR][1000 genomes]
rs2104670	0.83[EUR][1000 genomes]
rs2104671	0.84[EUR][1000 genomes]
rs2488368	0.80[EUR][1000 genomes]
rs2488369	0.80[EUR][1000 genomes]
rs2780677	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2800399	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2800402	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs480738	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs484172	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs501495	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs502416	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs527192	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs534226	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs559839	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs576161	0.84[EUR][1000 genomes]
rs604705	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs618050	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs623380	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs624106	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs640284	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs642428	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs642430	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6482604	0.82[EUR][1000 genomes]
rs788202	0.80[EUR][1000 genomes]
rs788205	0.80[EUR][1000 genomes]
rs788207	0.82[EUR][1000 genomes]
rs788212	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs788215	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7896532	0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422253	chr10:27431366-27575370	Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3337781	chr10:27472216-27666703	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv8614	chr10:27504487-27828406	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv947786	chr10:27535141-27541912	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs590142	ANKRD26	cis	Esophagus Muscularis	GTEx

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27532600-27540400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:27532600-27541200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr10:27532600-27541200	Weak transcription	Esophagus	oesophagus
4	chr10:27532600-27541200	Weak transcription	Pancreas	Pancrea
5	chr10:27532600-27541200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr10:27532800-27541000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr10:27532800-27541000	Weak transcription	Adipose Nuclei	Adipose
8	chr10:27532800-27541200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr10:27532800-27541200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr10:27532800-27541200	Weak transcription	Right Ventricle	heart
11	chr10:27533000-27541000	Weak transcription	Hela-S3	cervix
12	chr10:27533000-27541200	Weak transcription	Primary T cells from cord blood	blood
13	chr10:27533000-27541200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr10:27533000-27541200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr10:27533000-27541200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr10:27533000-27541200	Weak transcription	Brain Substantia Nigra	brain
17	chr10:27533000-27541200	Weak transcription	Fetal Kidney	kidney
18	chr10:27536400-27541200	Weak transcription	Fetal Intestine Large	intestine
19	chr10:27536400-27541200	Weak transcription	Fetal Intestine Small	intestine
20	chr10:27537200-27541200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr10:27537200-27541200	Weak transcription	Fetal Muscle Leg	muscle
22	chr10:27537200-27541200	Weak transcription	Right Atrium	heart
23	chr10:27537200-27541400	Weak transcription	Psoas Muscle	Psoas
24	chr10:27538000-27541200	Weak transcription	Left Ventricle	heart
25	chr10:27538000-27541200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr10:27538000-27547200	Weak transcription	Fetal Heart	heart
27	chr10:27538200-27541000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr10:27538400-27539600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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