Variant report

Variant	rs12074091
Chromosome Location	chr1:223896439-223896440
allele	C/T
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	chr1:223895202..223897591-chr1:223904463..223906328,2	K562	blood:
2	chr1:223895536..223897944-chr1:223933865..223935699,2	MCF-7	breast:
3	chr1:223894371..223897139-chr1:224032420..224034876,4	MCF-7	breast:
4	chr1:223893260..223897061-chr1:223935259..223940090,6	MCF-7	breast:
5	chr1:223891443..223896975-chr1:223925207..223929791,6	MCF-7	breast:
6	chr1:223885961..223896993-chr1:223898177..223910405,32	MCF-7	breast:
7	chr1:223893459..223896572-chr1:223897626..223901997,6	K562	blood:
8	chr1:223895060..223897000-chr1:223946083..223948413,2	MCF-7	breast:
9	chr1:223892791..223896772-chr1:223919510..223922888,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000162909	Chromatin interaction
ENSG00000143514	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10799550	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10916600	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10916601	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10916602	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10916603	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10916604	0.88[ASN][1000 genomes]
rs10916634	0.94[EUR][1000 genomes]
rs10916646	0.94[EUR][1000 genomes]
rs11579787	0.82[ASN][1000 genomes]
rs11580460	0.94[EUR][1000 genomes]
rs11580689	0.82[ASN][1000 genomes]
rs11581716	0.82[ASN][1000 genomes]
rs12057708	0.88[ASN][1000 genomes]
rs12070364	0.94[EUR][1000 genomes]
rs12080565	0.95[ASN][1000 genomes]
rs12567519	0.81[EUR][1000 genomes]
rs12568612	0.81[EUR][1000 genomes]
rs1419305	0.94[EUR][1000 genomes]
rs1539707	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16842040	0.93[ASN][1000 genomes]
rs16842062	0.82[ASN][1000 genomes]
rs17556570	0.81[EUR][1000 genomes]
rs1779658	0.89[EUR][1000 genomes]
rs1892076	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1892077	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2000320	0.88[ASN][1000 genomes]
rs2154113	0.96[ASN][1000 genomes]
rs2186006	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2275877	0.96[ASN][1000 genomes]
rs28370012	0.96[ASN][1000 genomes]
rs28370013	0.96[ASN][1000 genomes]
rs28370014	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28370020	0.96[ASN][1000 genomes]
rs28370029	0.80[ASN][1000 genomes]
rs28739569	0.96[EUR][1000 genomes]
rs4511081	0.87[EUR][1000 genomes]
rs4653499	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4653500	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61822636	0.81[EUR][1000 genomes]
rs61823962	0.84[EUR][1000 genomes]
rs61823965	0.87[EUR][1000 genomes]
rs61823966	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61823967	0.98[EUR][1000 genomes]
rs61823968	0.98[EUR][1000 genomes]
rs61823980	0.94[EUR][1000 genomes]
rs61823981	0.94[EUR][1000 genomes]
rs6669046	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6674733	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6702314	0.86[EUR][1000 genomes]
rs6702430	0.85[EUR][1000 genomes]
rs7366009	0.96[ASN][1000 genomes]
rs7412088	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7414311	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7517684	0.92[EUR][1000 genomes]
rs7525446	0.94[EUR][1000 genomes]
rs7547642	0.92[EUR][1000 genomes]
rs7555491	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832681	chr1:223698048-224002691	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv873213	chr1:223885843-223924236	Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12074091	CAPN2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223889000-223900000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:223891200-223898600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr1:223892000-223897000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr1:223892200-223899800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:223892400-223896800	Enhancers	Placenta	Placenta
6	chr1:223892400-223897000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:223892400-223897000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr1:223892400-223897000	Enhancers	Fetal Muscle Leg	muscle
9	chr1:223892400-223898400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:223892600-223897000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr1:223893000-223898800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:223893400-223899600	Weak transcription	Fetal Kidney	kidney
13	chr1:223893600-223897000	Enhancers	Fetal Muscle Trunk	muscle
14	chr1:223893800-223898200	Enhancers	Fetal Heart	heart
15	chr1:223894000-223897000	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr1:223894000-223898600	Weak transcription	Fetal Brain Female	brain
17	chr1:223894000-223899800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:223894000-223899800	Enhancers	Fetal Intestine Large	intestine
19	chr1:223894600-223898600	Weak transcription	Brain Germinal Matrix	brain
20	chr1:223894600-223899000	Weak transcription	Fetal Brain Male	brain
21	chr1:223895200-223896800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:223895400-223899400	Weak transcription	Brain Angular Gyrus	brain
23	chr1:223895600-223896800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:223895600-223897400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr1:223895600-223898800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr1:223895600-223898800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr1:223895600-223899000	Weak transcription	Brain Hippocampus Middle	brain
28	chr1:223895600-223899000	Weak transcription	Brain Substantia Nigra	brain
29	chr1:223895600-223899400	Weak transcription	Esophagus	oesophagus
30	chr1:223895600-223899600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:223895600-223899600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr1:223895600-223899800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:223895800-223896800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:223895800-223896800	Weak transcription	Lung	lung
35	chr1:223895800-223896800	Enhancers	NH-A	brain
36	chr1:223895800-223897000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:223895800-223897000	Enhancers	HSMMtube	muscle
38	chr1:223895800-223897600	Weak transcription	Fetal Lung	lung
39	chr1:223895800-223898000	Enhancers	K562	blood
40	chr1:223895800-223899000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr1:223895800-223899400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr1:223895800-223899600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:223895800-223899600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:223895800-223899600	Weak transcription	Brain Anterior Caudate	brain
45	chr1:223895800-223899600	Weak transcription	Colon Smooth Muscle	Colon
46	chr1:223895800-223899600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr1:223895800-223899600	Weak transcription	Right Ventricle	heart
48	chr1:223895800-223899600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr1:223896000-223896800	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr1:223896000-223897000	Enhancers	Muscle Satellite Cultured Cells	--

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