Variant report

Variant	rs12530219
Chromosome Location	chr6:74435217-74435218
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12524953	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12530058	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12530208	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12661029	0.80[ASN][1000 genomes]
rs12665364	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58031803	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59074160	0.85[ASN][1000 genomes]
rs6921569	0.90[ASN][1000 genomes]
rs6935547	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73458395	0.82[ASN][1000 genomes]
rs7739291	0.91[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	nsv886158	chr6:74126084-74436825	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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:55 , 50 per page) page: 1 2

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	chr6:74423600-74441000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr6:74424200-74443200	Weak transcription	Right Atrium	heart
5	chr6:74425000-74443600	Weak transcription	Lung	lung
6	chr6:74425200-74439800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr6:74425200-74475800	Weak transcription	Hela-S3	cervix
8	chr6:74425400-74483200	Weak transcription	A549	lung
9	chr6:74430600-74455400	Weak transcription	Right Ventricle	heart
10	chr6:74432200-74438600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr6:74432400-74440800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:74432400-74442600	Weak transcription	Left Ventricle	heart
13	chr6:74432400-74444200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr6:74432600-74440400	Weak transcription	Fetal Muscle Leg	muscle
15	chr6:74432800-74436200	Weak transcription	HMEC	breast
16	chr6:74432800-74440200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:74432800-74442600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:74433000-74439600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:74433000-74442200	Weak transcription	Colon Smooth Muscle	Colon
20	chr6:74433000-74448000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:74433000-74456400	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr6:74433000-74456400	Weak transcription	HSMM	muscle
23	chr6:74433200-74440000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:74433200-74440000	Weak transcription	Osteobl	bone
25	chr6:74433400-74438200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:74433400-74448600	Weak transcription	NH-A	brain
27	chr6:74433400-74456400	Weak transcription	NHLF	lung
28	chr6:74433600-74455000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr6:74434000-74435600	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr6:74434000-74435800	Enhancers	Primary hematopoietic stem cells	blood
31	chr6:74434200-74435800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:74434200-74437000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:74434400-74435600	Enhancers	Fetal Thymus	thymus
34	chr6:74434400-74435600	Enhancers	HUVEC	blood vessel
35	chr6:74434400-74435800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:74434600-74435400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr6:74434600-74435800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:74434600-74448400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr6:74434800-74435400	Active TSS	Adipose Nuclei	Adipose
40	chr6:74434800-74435600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr6:74434800-74435600	Active TSS	Monocytes-CD14+_RO01746	blood
42	chr6:74434800-74435600	Weak transcription	NHDF-Ad	bronchial
43	chr6:74434800-74436600	Weak transcription	NHEK	skin
44	chr6:74434800-74439600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr6:74434800-74440200	Weak transcription	Fetal Muscle Trunk	muscle
46	chr6:74435000-74435400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr6:74435000-74435400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr6:74435000-74435400	Enhancers	Placenta	Placenta
49	chr6:74435000-74436000	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr6:74435000-74439800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links