Variant report

Variant	rs12530208
Chromosome Location	chr6:74444261-74444262
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12524953	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12530058	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12530219	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12661029	0.80[ASN][1000 genomes]
rs12665364	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58031803	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59074160	0.85[ASN][1000 genomes]
rs6921569	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6935547	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73458395	0.82[ASN][1000 genomes]
rs7739291	0.82[EUR][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	nsv1027968	chr6:74155378-74521923	Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers 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	178 gene(s)	inside rSNPs	diseases
2	nsv538305	chr6:74155378-74521923	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers 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 lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
3	nsv1023250	chr6:74189642-74605976	Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
4	nsv538306	chr6:74189642-74605976	Strong transcription Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
5	nsv463154	chr6:74412048-74775904	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv603695	chr6:74412048-74775904	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74408000-74446800	Weak transcription	Dnd41	blood
2	chr6:74414800-74474600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr6:74425200-74475800	Weak transcription	Hela-S3	cervix
4	chr6:74425400-74483200	Weak transcription	A549	lung
5	chr6:74430600-74455400	Weak transcription	Right Ventricle	heart
6	chr6:74433000-74448000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:74433000-74456400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr6:74433000-74456400	Weak transcription	HSMM	muscle
9	chr6:74433400-74448600	Weak transcription	NH-A	brain
10	chr6:74433400-74456400	Weak transcription	NHLF	lung
11	chr6:74433600-74455000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr6:74434600-74448400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr6:74435400-74448200	Weak transcription	Adipose Nuclei	Adipose
14	chr6:74435600-74445200	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr6:74435600-74454600	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr6:74435800-74475400	Weak transcription	Primary T cells from cord blood	blood
17	chr6:74438400-74527200	Weak transcription	Esophagus	oesophagus
18	chr6:74439600-74446200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:74439600-74451200	Strong transcription	HMEC	breast
20	chr6:74439800-74444400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:74440200-74451000	Strong transcription	Primary hematopoietic stem cells	blood
22	chr6:74440400-74447200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr6:74441200-74445600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:74441400-74449800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr6:74441400-74473200	Weak transcription	HUVEC	blood vessel
26	chr6:74441400-74544400	Weak transcription	Aorta	Aorta
27	chr6:74442200-74445600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:74442200-74455800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:74442200-74473400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr6:74442400-74493400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr6:74442600-74445200	Genic enhancers	NHDF-Ad	bronchial
32	chr6:74442800-74444800	Enhancers	Fetal Heart	heart
33	chr6:74442800-74448000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:74443000-74451400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:74443200-74444400	Strong transcription	Osteobl	bone
36	chr6:74443200-74445200	Enhancers	Right Atrium	heart
37	chr6:74443200-74448000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:74443400-74444400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr6:74443400-74444400	Weak transcription	GM12878-XiMat	blood
40	chr6:74443400-74445600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:74443400-74484000	Weak transcription	Left Ventricle	heart
42	chr6:74444000-74445200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr6:74444000-74448000	Weak transcription	Fetal Stomach	stomach
44	chr6:74444000-74448400	Weak transcription	NHEK	skin
45	chr6:74444000-74498600	Weak transcription	Fetal Muscle Leg	muscle
46	chr6:74444200-74444400	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr6:74444200-74444400	Enhancers	Colon Smooth Muscle	Colon
48	chr6:74444200-74444600	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr6:74444200-74444600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr6:74444200-74445200	Enhancers	Rectal Smooth Muscle	rectum

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