Variant report

Variant	rs9489195
Chromosome Location	chr6:117772629-117772630
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr6:117772214-117773032	Hela-S3	cervix:	n/a	n/a
2	MYC	chr6:117772486-117773088	MCF10A-Er-Src	breast:	n/a	n/a
3	GATA3	chr6:117772106-117772796	SK-N-SH	brain:	n/a	n/a
4	CEBPB	chr6:117772407-117773228	Hela-S3	cervix:	n/a	chr6:117773023-117773036
5	CEBPB	chr6:117772621-117773161	A549	lung:	n/a	chr6:117773023-117773036
6	MYC	chr6:117772263-117773298	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr6:117772382-117772763	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:117771548..117773609-chr6:117923390..117926576,3	MCF-7	breast:
2	chr6:117770749..117772894-chr6:117776131..117779013,2	K562	blood:

Variant related genes	Relation type
DCBLD1	TF binding region
ENSG00000207461	Chromatin interaction
ENSG00000047932	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10080784	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10081005	1.00[ASW][hapmap];0.94[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs11757765	1.00[JPT][hapmap]
rs11758857	1.00[JPT][hapmap]
rs1321811	1.00[JPT][hapmap]
rs17079156	0.83[GIH][hapmap]
rs17079193	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17573446	1.00[JPT][hapmap]
rs17574179	1.00[JPT][hapmap]
rs17574269	1.00[JPT][hapmap]
rs17634067	0.83[GIH][hapmap];0.81[MKK][hapmap]
rs17635403	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17636252	1.00[JPT][hapmap]
rs17636431	1.00[JPT][hapmap]
rs6913494	0.89[GIH][hapmap]
rs6914947	0.96[AFR][1000 genomes]
rs6932793	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6939463	0.96[AFR][1000 genomes]
rs6939501	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs6940229	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959681	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959686	0.96[AFR][1000 genomes]
rs72961449	0.89[AFR][1000 genomes]
rs9320600	0.89[GIH][hapmap]
rs9320601	0.89[GIH][hapmap]
rs9320602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9320603	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9481717	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];0.87[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9481718	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];0.87[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9489189	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9489191	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489192	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489197	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9489198	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9986462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv532050	chr6:117528154-118203005	ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv521325	chr6:117772143-117776185	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9489195	DCBLD1	cis	parietal	SCAN
rs9489195	ROS1	cis	parietal	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117768000-117773400	Enhancers	NHEK	skin
2	chr6:117768200-117773200	Enhancers	Osteobl	bone
3	chr6:117768200-117773600	Enhancers	HMEC	breast
4	chr6:117769000-117773200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:117769200-117773200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:117769600-117773400	Enhancers	HSMM	muscle
7	chr6:117769600-117779400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:117769800-117773600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:117769800-117773600	Enhancers	HSMMtube	muscle
10	chr6:117770000-117773000	Enhancers	NH-A	brain
11	chr6:117770000-117773600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:117770000-117778000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr6:117770600-117773400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr6:117770800-117773400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr6:117771000-117772800	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr6:117771000-117773200	Enhancers	Duodenum Mucosa	Duodenum
17	chr6:117771000-117773600	Enhancers	Fetal Intestine Large	intestine
18	chr6:117771200-117773000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:117771200-117773000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:117771200-117773000	Weak transcription	Fetal Stomach	stomach
21	chr6:117771200-117773600	Enhancers	A549	lung
22	chr6:117771200-117773600	Enhancers	Hela-S3	cervix
23	chr6:117771400-117773200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:117771800-117773600	Enhancers	Fetal Intestine Small	intestine
25	chr6:117772000-117773200	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr6:117772000-117773200	Weak transcription	NHLF	lung
27	chr6:117772200-117773000	Enhancers	Stomach Mucosa	stomach
28	chr6:117772200-117773200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr6:117772400-117772800	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr6:117772400-117773200	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr6:117772400-117773400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr6:117772600-117772800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:117772600-117773000	Weak transcription	Small Intestine	intestine
34	chr6:117772600-117773200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr6:117772600-117773200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr6:117772600-117773200	Enhancers	Adipose Nuclei	Adipose
37	chr6:117772600-117773600	Enhancers	HepG2	liver
38	chr6:117772600-117775400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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