Variant report

Variant	rs9394522
Chromosome Location	chr6:38651618-38651619
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:38650801..38652839-chr6:38670478..38672074,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124767	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10947757	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1130534	0.99[ASN][1000 genomes]
rs1579028	0.94[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1621483	0.94[ASN][1000 genomes]
rs4711556	0.94[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs57156564	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs58749921	0.82[AMR][1000 genomes]
rs59793635	0.84[ASN][1000 genomes]
rs60262339	0.94[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6931745	0.84[ASN][1000 genomes]
rs6932648	0.98[ASN][1000 genomes]
rs9369075	0.97[ASN][1000 genomes]
rs9394523	0.98[ASN][1000 genomes]
rs9394524	0.98[ASN][1000 genomes]
rs9462451	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9462453	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9470913	0.84[ASN][1000 genomes]
rs9470916	0.92[ASN][1000 genomes]
rs9470917	0.94[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9470918	0.94[AMR][1000 genomes];0.96[ASN][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	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv2758049	chr6:38588969-38711085	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	esv2759421	chr6:38588969-38711085	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv427754	chr6:38588969-38711085	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv428144	chr6:38588969-38711085	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv830642	chr6:38645056-38800657	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38612800-38652800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr6:38614800-38654800	Weak transcription	Brain Angular Gyrus	brain
3	chr6:38640000-38652400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr6:38641000-38654800	Weak transcription	Fetal Heart	heart
5	chr6:38641200-38670000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:38641600-38668000	Weak transcription	NHLF	lung
7	chr6:38641800-38654800	Weak transcription	Pancreas	Pancrea
8	chr6:38642000-38652600	Weak transcription	Stomach Mucosa	stomach
9	chr6:38642000-38657600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr6:38642200-38652200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:38642200-38656400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:38642400-38652000	Strong transcription	Fetal Muscle Leg	muscle
13	chr6:38642400-38652400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:38642400-38653600	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr6:38642400-38653800	Strong transcription	Dnd41	blood
16	chr6:38642400-38654000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:38642400-38654800	Weak transcription	Psoas Muscle	Psoas
18	chr6:38642400-38655200	Strong transcription	NHEK	skin
19	chr6:38642400-38657000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr6:38642400-38660000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:38642400-38665600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr6:38642600-38651800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:38642600-38653400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:38642600-38653600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:38642600-38654600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr6:38642600-38655000	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr6:38642600-38655200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:38642800-38652400	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr6:38642800-38655600	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr6:38642800-38658000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:38642800-38669800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr6:38643000-38654000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr6:38643200-38653800	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr6:38643200-38656200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr6:38644400-38653600	Weak transcription	HSMMtube	muscle
36	chr6:38645000-38656600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr6:38645400-38652200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr6:38646000-38670000	Weak transcription	A549	lung
39	chr6:38646400-38652400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:38646600-38656400	Weak transcription	Colonic Mucosa	Colon
41	chr6:38646600-38656400	Weak transcription	Spleen	Spleen
42	chr6:38646600-38663400	Weak transcription	Esophagus	oesophagus
43	chr6:38646800-38653400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr6:38646800-38654800	Weak transcription	Brain Hippocampus Middle	brain
45	chr6:38646800-38655000	Weak transcription	Aorta	Aorta
46	chr6:38646800-38656400	Weak transcription	Colon Smooth Muscle	Colon
47	chr6:38646800-38656400	Weak transcription	Fetal Brain Female	brain
48	chr6:38646800-38656400	Weak transcription	Gastric	stomach
49	chr6:38646800-38668200	Weak transcription	Primary T cells from cord blood	blood
50	chr6:38647000-38656200	Weak transcription	Brain Germinal Matrix	brain

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