Variant report

Variant	rs58301361
Chromosome Location	chr12:105648855-105648856
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	chr12:105646719..105649373-chr12:105657582..105659204,2	K562	blood:
2	chr12:105628268..105630407-chr12:105646094..105648967,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235162	Chromatin interaction
ENSG00000136044	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs1882148	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2116676	1.00[AMR][1000 genomes]
rs2116677	1.00[AMR][1000 genomes]
rs3763991	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57393988	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57448746	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57456392	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57618699	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58969183	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59143432	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59811168	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59840770	1.00[EUR][1000 genomes]
rs59935781	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60167837	1.00[EUR][1000 genomes]
rs60230439	1.00[EUR][1000 genomes]
rs60294187	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60495600	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60725801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61042175	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61336075	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61437377	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72487518	1.00[AMR][1000 genomes]
rs7294681	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297845	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304175	1.00[EUR][1000 genomes]
rs7307834	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7314155	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73393842	1.00[EUR][1000 genomes]
rs73393866	1.00[EUR][1000 genomes]
rs73393869	1.00[EUR][1000 genomes]
rs73393881	1.00[EUR][1000 genomes]
rs73393882	1.00[EUR][1000 genomes]
rs73395723	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73395740	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73395744	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73395745	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73395746	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73395758	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73395770	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73395771	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73395772	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73395783	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73395785	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397621	1.00[EUR][1000 genomes]
rs73397624	1.00[EUR][1000 genomes]
rs73397654	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397655	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397656	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397659	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397660	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397661	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397663	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397672	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397677	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397678	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397680	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397683	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397684	1.00[ASN][1000 genomes]
rs73397685	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397687	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397688	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397690	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397700	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397701	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399708	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399717	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399720	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399724	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399728	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399730	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399742	1.00[ASN][1000 genomes]
rs73399779	1.00[AMR][1000 genomes]
rs73399787	1.00[AMR][1000 genomes]
rs73399794	1.00[AMR][1000 genomes]
rs73401704	1.00[AMR][1000 genomes]
rs73401705	1.00[AMR][1000 genomes]
rs73401708	1.00[AMR][1000 genomes]
rs7959931	1.00[EUR][1000 genomes]
rs9668528	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv455704	chr12:105583877-105651356	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
2	nsv560053	chr12:105583877-105651356	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
3	nsv899499	chr12:105616297-105722529	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105646400-105651000	Enhancers	Osteobl	bone
2	chr12:105647000-105649600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:105647000-105650000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr12:105647000-105652600	Enhancers	HSMMtube	muscle
5	chr12:105647000-105653400	Enhancers	NHLF	lung
6	chr12:105647200-105651000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:105647200-105651800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:105647400-105649400	Enhancers	HUVEC	blood vessel
9	chr12:105647400-105653400	Enhancers	Placenta Amnion	Placenta Amnion
10	chr12:105647800-105649000	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr12:105647800-105649800	Weak transcription	Aorta	Aorta
12	chr12:105648000-105649600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr12:105648200-105649600	Weak transcription	K562	blood
14	chr12:105648200-105649800	Enhancers	NH-A	brain
15	chr12:105648200-105651000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:105648200-105651000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr12:105648200-105651800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:105648200-105651800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:105648200-105652000	Enhancers	HMEC	breast
20	chr12:105648200-105653000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:105648200-105653800	Enhancers	NHDF-Ad	bronchial
22	chr12:105648200-105657400	Weak transcription	Esophagus	oesophagus
23	chr12:105648400-105649000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:105648400-105649000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:105648400-105649000	Enhancers	A549	lung
26	chr12:105648400-105649200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:105648400-105650400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr12:105648600-105649000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:105648600-105650200	Enhancers	Muscle Satellite Cultured Cells	--
30	chr12:105648600-105650400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:105648800-105650000	Weak transcription	Hela-S3	cervix
32	chr12:105648800-105651800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr12:105648800-105651800	Enhancers	NHEK	skin
34	chr12:105648800-105652800	Enhancers	HSMM	muscle

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