Variant report

Variant	rs4680176
Chromosome Location	chr3:155141789-155141790
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:155140732..155143652-chr3:155144981..155146803,2	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11706749	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11709568	0.86[CHD][hapmap]
rs11713552	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11715278	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11928089	0.86[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs12487150	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12493778	0.92[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12496803	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12631218	0.90[CHD][hapmap]
rs12696031	0.86[CHB][hapmap];0.91[CHD][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs13066178	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13081656	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13083852	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap]
rs13100169	0.86[CHB][hapmap];0.91[CHD][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs2351	0.88[CHD][hapmap]
rs2352	0.88[CHD][hapmap]
rs35424673	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4345113	0.92[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.92[TSI][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4524323	0.81[ASN][1000 genomes]
rs4630984	0.96[CEU][hapmap];0.95[CHB][hapmap];0.92[JPT][hapmap]
rs4679744	0.83[ASN][1000 genomes]
rs4679745	0.91[CHD][hapmap]
rs4680171	0.89[EUR][1000 genomes]
rs4680172	0.92[CEU][hapmap];0.91[GIH][hapmap];0.92[TSI][hapmap]
rs4680173	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4680174	0.85[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.81[TSI][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4680175	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4680177	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4680178	0.82[ASN][1000 genomes]
rs4680185	0.88[CHD][hapmap]
rs6440985	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6440993	0.86[CHD][hapmap]
rs6440994	0.84[CHD][hapmap]
rs6440995	0.84[CHD][hapmap]
rs6762452	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6794214	0.92[CEU][hapmap];0.83[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6802079	0.91[CHD][hapmap]
rs6807784	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6807961	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7612603	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7615026	0.86[CHB][hapmap];0.90[CHD][hapmap];0.88[JPT][hapmap];0.82[MEX][hapmap];0.83[ASN][1000 genomes]
rs7618495	0.86[CHD][hapmap]
rs7619730	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7627097	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9823946	0.80[CHB][hapmap];0.85[JPT][hapmap]
rs9829532	0.86[CHD][hapmap]
rs9841365	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9848852	0.88[CHD][hapmap]
rs9869956	0.93[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999994	chr3:154579254-155175303	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv532664	chr3:154588346-155162615	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1000753	chr3:154848433-155207022	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv536773	chr3:154848433-155207022	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv877679	chr3:155128968-155204939	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4680176	BRD7	cis	parietal	SCAN
rs4680176	PLCH1	cis	parietal	SCAN
rs4680176	GFM1	cis	cerebellum	SCAN
rs4680176	SLC33A1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:155136600-155141800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr3:155136600-155142400	Weak transcription	Fetal Brain Female	brain
3	chr3:155136800-155141800	Weak transcription	Brain Germinal Matrix	brain
4	chr3:155139600-155143200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:155139800-155141800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:155139800-155141800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr3:155140000-155141800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr3:155140400-155141800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr3:155140400-155141800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr3:155140600-155141800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr3:155140600-155141800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr3:155141200-155142200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:155141400-155142000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr3:155141400-155142000	Enhancers	Fetal Thymus	thymus
15	chr3:155141400-155142000	Enhancers	Thymus	Thymus
16	chr3:155141400-155142200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr3:155141400-155142200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr3:155141400-155142200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr3:155141400-155142400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:155141400-155142600	Enhancers	NHEK	skin
21	chr3:155141400-155142800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr3:155141400-155142800	Enhancers	Placenta	Placenta
23	chr3:155141600-155142000	Enhancers	Primary T cells from cord blood	blood
24	chr3:155141600-155142200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr3:155141600-155142200	Enhancers	H9 Cell Line	embryonic stem cell
26	chr3:155141600-155142200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:155141600-155142200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr3:155141600-155142200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr3:155141600-155142200	Enhancers	HSMMtube	muscle
30	chr3:155141600-155142400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr3:155141600-155142400	Enhancers	Fetal Muscle Leg	muscle
32	chr3:155141600-155142600	Enhancers	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links