Variant report

Variant	rs12307351
Chromosome Location	chr12:105955634-105955635
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105944792..105946780-chr12:105955206..105957369,2	MCF-7	breast:
2	chr12:105952871..105955761-chr12:105958495..105960163,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C12orf75-6	chr12:105955031-105962713	NONHSAT030458

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10507192	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10507194	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10778413	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10778414	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11112585	0.91[ASN][1000 genomes]
rs11112586	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11112587	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11112588	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11112589	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11112590	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11112591	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11112592	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12296355	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12305225	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12316204	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12321309	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12371537	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12580741	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17037308	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17037312	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17037317	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17041546	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2374502	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4015312	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55646142	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58066965	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59504344	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60865625	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61200462	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61645733	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6539218	0.88[ASN][1000 genomes]
rs66754070	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs68053161	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7299470	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73184077	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73184078	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73184081	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73184083	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73184084	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7956435	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7959699	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7969390	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7969416	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7969421	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7969556	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs871219	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs871220	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs941101	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832507	chr12:105821685-106005186	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1039068	chr12:105935786-106211250	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105938800-105964600	Weak transcription	Aorta	Aorta
2	chr12:105948200-105955800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:105948400-105955800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr12:105950000-105956400	Strong transcription	HUVEC	blood vessel
5	chr12:105951800-105955800	Weak transcription	Adipose Nuclei	Adipose
6	chr12:105952000-105955800	Weak transcription	Left Ventricle	heart
7	chr12:105954600-105957400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:105954800-105955800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:105954800-105955800	Enhancers	NH-A	brain
10	chr12:105955000-105955800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:105955000-105955800	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr12:105955000-105956000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:105955000-105956200	Enhancers	HSMMtube	muscle
14	chr12:105955000-105958000	Enhancers	Fetal Muscle Leg	muscle
15	chr12:105955200-105955800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr12:105955200-105955800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:105955200-105955800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr12:105955200-105955800	Enhancers	Osteobl	bone
19	chr12:105955200-105956000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:105955200-105956200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:105955200-105956400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:105955200-105956400	Enhancers	Fetal Lung	lung
23	chr12:105955200-105956400	Enhancers	HSMM	muscle
24	chr12:105955200-105956600	Enhancers	NHDF-Ad	bronchial
25	chr12:105955200-105956800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr12:105955200-105957200	Enhancers	HMEC	breast
27	chr12:105955400-105955800	Enhancers	Fetal Brain Female	brain
28	chr12:105955400-105955800	Enhancers	Rectal Smooth Muscle	rectum
29	chr12:105955400-105955800	Enhancers	Stomach Smooth Muscle	stomach
30	chr12:105955400-105956000	Active TSS	Fetal Brain Male	brain
31	chr12:105955400-105956000	Enhancers	Gastric	stomach
32	chr12:105955400-105956000	Flanking Active TSS	A549	lung
33	chr12:105955400-105956400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr12:105955400-105956600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:105955400-105956600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:105955400-105956600	Enhancers	Right Atrium	heart
37	chr12:105955400-105956800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:105955400-105956800	Enhancers	Colon Smooth Muscle	Colon
39	chr12:105955400-105956800	Enhancers	Fetal Heart	heart
40	chr12:105955400-105957000	Enhancers	Fetal Stomach	stomach
41	chr12:105955400-105957000	Flanking Active TSS	Hela-S3	cervix
42	chr12:105955400-105958200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:105955600-105956000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr12:105955600-105956000	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr12:105955600-105956000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr12:105955600-105956200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr12:105955600-105956200	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr12:105955600-105956200	Flanking Active TSS	NHEK	skin
49	chr12:105955600-105956200	Enhancers	NHLF	lung
50	chr12:105955600-105956600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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