Variant report

Variant	rs2483491
Chromosome Location	chr10:27514875-27514876
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	chr10:27511969..27517991-chr10:27527633..27531388,6	K562	blood:

Variant related genes	Relation type
ENSG00000107897	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11015603	1.00[ASN][1000 genomes]
rs12356360	1.00[ASN][1000 genomes]
rs12360088	1.00[ASN][1000 genomes]
rs16927620	1.00[ASN][1000 genomes]
rs16927627	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16927642	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16927653	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16927663	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1753423	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1775349	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1831187	0.90[YRI][hapmap]
rs1970541	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2479908	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2479909	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2479911	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2483489	0.84[ASW][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2483490	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2483492	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2489372	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2770201	0.90[YRI][hapmap]
rs2780670	0.90[YRI][hapmap]
rs2800393	0.82[YRI][hapmap]
rs2987452	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2995499	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41282204	1.00[ASN][1000 genomes]
rs41282208	1.00[ASN][1000 genomes]
rs41282216	1.00[ASN][1000 genomes]
rs41282218	1.00[ASN][1000 genomes]
rs41299222	1.00[ASN][1000 genomes]
rs4522064	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4747595	1.00[YRI][hapmap]
rs481629	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57132590	1.00[ASN][1000 genomes]
rs59162492	1.00[ASN][1000 genomes]
rs62622019	1.00[ASN][1000 genomes]
rs6482608	1.00[ASN][1000 genomes]
rs670157	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73596349	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73596350	1.00[ASN][1000 genomes]
rs73596351	1.00[ASN][1000 genomes]
rs73596353	1.00[ASN][1000 genomes]
rs73596354	1.00[ASN][1000 genomes]
rs73598015	1.00[ASN][1000 genomes]
rs73598019	1.00[ASN][1000 genomes]
rs73598020	1.00[ASN][1000 genomes]
rs73598021	1.00[ASN][1000 genomes]
rs73598022	1.00[ASN][1000 genomes]
rs73598023	1.00[ASN][1000 genomes]
rs73598024	1.00[ASN][1000 genomes]
rs73598027	1.00[ASN][1000 genomes]
rs73598031	1.00[ASN][1000 genomes]
rs73598032	1.00[ASN][1000 genomes]
rs73598033	1.00[ASN][1000 genomes]
rs73598034	1.00[ASN][1000 genomes]
rs73598036	1.00[ASN][1000 genomes]
rs73598041	1.00[ASN][1000 genomes]
rs73598044	1.00[ASN][1000 genomes]
rs788214	0.87[YRI][hapmap];0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7902034	1.00[YRI][hapmap]

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	nsv894980	chr10:27477285-27526531	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
4	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2483491	ANKRD26	cis	Muscle Skeletal	GTEx
rs2483491	MASTL	cis	multi-tissue	Pritchard

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27473200-27524200	Weak transcription	Stomach Mucosa	stomach
2	chr10:27475600-27528600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr10:27476200-27528600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr10:27481600-27527800	Weak transcription	Psoas Muscle	Psoas
5	chr10:27488600-27528600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr10:27491800-27527800	Weak transcription	Fetal Brain Male	brain
7	chr10:27494800-27528200	Weak transcription	K562	blood
8	chr10:27500000-27528000	Weak transcription	NHLF	lung
9	chr10:27500000-27528400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr10:27500200-27519800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr10:27500800-27528000	Weak transcription	HMEC	breast
12	chr10:27501000-27528000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr10:27503200-27528200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr10:27504000-27515400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr10:27504000-27528200	Weak transcription	Brain Substantia Nigra	brain
16	chr10:27505200-27527800	Weak transcription	Right Ventricle	heart
17	chr10:27505600-27519400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr10:27505600-27528000	Weak transcription	NHEK	skin
19	chr10:27506000-27519800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr10:27508200-27515400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr10:27508400-27528400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr10:27508600-27516400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr10:27508600-27519800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr10:27508600-27527800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr10:27508600-27527800	Weak transcription	Colonic Mucosa	Colon
26	chr10:27508600-27529000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr10:27508800-27516200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr10:27508800-27516600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr10:27508800-27518200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr10:27508800-27519400	Weak transcription	Gastric	stomach
31	chr10:27508800-27522000	Weak transcription	Lung	lung
32	chr10:27508800-27523400	Weak transcription	HepG2	liver
33	chr10:27508800-27527800	Weak transcription	Pancreas	Pancrea
34	chr10:27508800-27527800	Weak transcription	Spleen	Spleen
35	chr10:27508800-27528000	Weak transcription	Brain Germinal Matrix	brain
36	chr10:27508800-27528600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr10:27508800-27528600	Weak transcription	Esophagus	oesophagus
38	chr10:27508800-27528600	Weak transcription	Thymus	Thymus
39	chr10:27508800-27528600	Weak transcription	HSMMtube	muscle
40	chr10:27508800-27528800	Weak transcription	Aorta	Aorta
41	chr10:27508800-27529000	Weak transcription	Small Intestine	intestine
42	chr10:27509400-27522400	Weak transcription	Ovary	ovary
43	chr10:27509600-27515000	Weak transcription	Brain Hippocampus Middle	brain
44	chr10:27509600-27524000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr10:27509600-27526000	Weak transcription	Fetal Heart	heart
46	chr10:27510000-27518600	Weak transcription	Brain Anterior Caudate	brain
47	chr10:27510000-27518600	Weak transcription	NHDF-Ad	bronchial
48	chr10:27510600-27516200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr10:27511200-27522000	Weak transcription	GM12878-XiMat	blood
50	chr10:27511200-27528200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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