Variant report

Variant	rs73427102
Chromosome Location	chr6:30448294-30448295
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30447797..30449612-chr6:30512660..30515323,2	MCF-7	breast:
2	chr6:30446309..30448997-chr6:30451629..30454419,2	MCF-7	breast:
3	chr6:30447631..30450065-chr6:30691817..30695001,3	K562	blood:
4	chr6:30422351..30425241-chr6:30448232..30450888,2	MCF-7	breast:
5	chr6:30446384..30451689-chr6:30578094..30585004,12	MCF-7	breast:
6	chr6:30447476..30449412-chr6:30509865..30511998,2	K562	blood:
7	chr6:30448170..30453321-chr6:30582822..30586539,6	K562	blood:
8	chr6:30447949..30451648-chr6:30569801..30572499,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000204568	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000236603	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs57613365	1.00[EUR][1000 genomes]
rs58253471	1.00[EUR][1000 genomes]
rs59139386	0.84[EUR][1000 genomes]
rs59734425	1.00[EUR][1000 genomes]
rs61123281	1.00[ASN][1000 genomes]
rs6941249	1.00[ASN][1000 genomes]
rs73421278	1.00[EUR][1000 genomes]
rs73425018	1.00[AMR][1000 genomes]
rs73427048	1.00[AMR][1000 genomes]
rs73427569	1.00[AMR][1000 genomes]
rs73429069	1.00[AFR][1000 genomes]
rs73429072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
4	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
5	nsv884069	chr6:30430875-30451474	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
6	nsv884070	chr6:30430875-30472772	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
7	nsv884075	chr6:30434566-30449046	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	nsv884076	chr6:30434566-30483919	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
9	nsv884077	chr6:30434900-30512163	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
10	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers 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 miRNA target site	967 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30447800-30448400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr6:30447800-30450200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
3	chr6:30448000-30448600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
4	chr6:30448000-30449800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
5	chr6:30448000-30450000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
6	chr6:30448000-30450200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
7	chr6:30448000-30450200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
8	chr6:30448000-30450200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr6:30448200-30448400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr6:30448200-30448400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:30448200-30448400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:30448200-30448400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr6:30448200-30448600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:30448200-30448600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
15	chr6:30448200-30448800	Bivalent Enhancer	Primary T cells from cord blood	blood
16	chr6:30448200-30448800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
17	chr6:30448200-30448800	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
18	chr6:30448200-30448800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
19	chr6:30448200-30449000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
20	chr6:30448200-30449200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
21	chr6:30448200-30449200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
22	chr6:30448200-30449200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
23	chr6:30448200-30449200	Flanking Bivalent TSS/Enh	NHEK	skin
24	chr6:30448200-30449600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
25	chr6:30448200-30450000	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:30448200-30450000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
27	chr6:30448200-30450000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
28	chr6:30448200-30450000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
29	chr6:30448200-30450000	Bivalent Enhancer	Fetal Thymus	thymus
30	chr6:30448200-30450000	Bivalent Enhancer	GM12878-XiMat	blood
31	chr6:30448200-30450200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
32	chr6:30448200-30450400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood

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