Variant report

Variant	rs7580178
Chromosome Location	chr2:96848207-96848208
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:96841162..96844605-chr2:96846241..96850717,4	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11551400	0.86[EUR][1000 genomes]
rs12613263	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12617019	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12618133	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2276650	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3852673	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4371393	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4592891	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4826	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57476471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59082429	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59664047	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60409279	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62152972	0.95[ASN][1000 genomes]
rs62153010	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62153011	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62153014	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62153018	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62153020	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62153022	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62153029	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6576968	0.91[ASN][1000 genomes]
rs6756208	0.93[ASN][1000 genomes]
rs72825854	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72825856	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72825864	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72825877	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73958180	0.95[ASN][1000 genomes]
rs7579709	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs997547	0.95[ASN][1000 genomes]
rs997548	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	esv3435047	chr2:96836850-96890437	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7580178	CIAO1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96828200-96850000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr2:96830600-96850000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:96837800-96849800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:96838000-96850200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:96840400-96848600	Weak transcription	Thymus	Thymus
6	chr2:96840400-96849200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:96840400-96849400	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:96840400-96849400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:96840400-96849600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr2:96840400-96849800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:96840400-96850000	Weak transcription	Primary B cells from cord blood	blood
12	chr2:96840400-96850000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr2:96840400-96850000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr2:96840400-96850000	Weak transcription	Brain Substantia Nigra	brain
15	chr2:96840400-96850000	Weak transcription	Pancreas	Pancrea
16	chr2:96840400-96850000	Weak transcription	Spleen	Spleen
17	chr2:96840400-96850200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:96840400-96850400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:96840400-96850600	Weak transcription	K562	blood
20	chr2:96840400-96851200	Weak transcription	Hela-S3	cervix
21	chr2:96840400-96851600	Weak transcription	Colonic Mucosa	Colon
22	chr2:96840600-96849800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr2:96840800-96850400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr2:96842000-96849200	Weak transcription	Left Ventricle	heart
25	chr2:96842000-96849800	Weak transcription	Brain Anterior Caudate	brain
26	chr2:96842200-96849000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:96842200-96849600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:96842200-96849800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:96842200-96850000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr2:96842200-96850000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr2:96842400-96849600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:96842400-96850000	Weak transcription	HSMMtube	muscle
33	chr2:96842600-96848600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:96842600-96849200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:96842600-96850000	Weak transcription	Right Ventricle	heart
36	chr2:96842600-96850000	Weak transcription	HSMM	muscle
37	chr2:96842600-96850000	Weak transcription	NHLF	lung
38	chr2:96842600-96850400	Weak transcription	NH-A	brain
39	chr2:96842600-96850800	Weak transcription	NHDF-Ad	bronchial
40	chr2:96842600-96861600	Weak transcription	Right Atrium	heart
41	chr2:96842800-96849000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:96842800-96849000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:96842800-96849600	Weak transcription	Osteobl	bone
44	chr2:96843400-96850600	Weak transcription	Fetal Heart	heart
45	chr2:96843600-96849200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr2:96844200-96849800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:96844200-96849800	Weak transcription	A549	lung
48	chr2:96844200-96850200	Weak transcription	HepG2	liver
49	chr2:96844600-96849800	Weak transcription	Fetal Brain Female	brain
50	chr2:96845200-96849800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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