Variant report

Variant	rs1548880
Chromosome Location	chr7:33170658-33170659
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	chr7:33169914..33172476-chr7:33187197..33189119,2	MCF-7	breast:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1009355	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10250045	0.86[CHB][hapmap]
rs10257361	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10268074	0.85[CHB][hapmap]
rs10279081	0.86[CHB][hapmap]
rs1030029	0.95[CHB][hapmap]
rs10951383	0.85[CHB][hapmap]
rs11763098	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12155105	0.82[CHB][hapmap]
rs12537278	0.85[CHB][hapmap]
rs12666022	0.93[ASN][1000 genomes]
rs12671191	0.86[CHB][hapmap]
rs1345308	0.90[CHB][hapmap]
rs1362368	0.86[JPT][hapmap]
rs1362371	0.90[CHB][hapmap]
rs1420148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1420158	0.90[CHB][hapmap]
rs1420159	0.89[CHB][hapmap]
rs1894873	0.90[CHB][hapmap]
rs1969575	0.82[ASN][1000 genomes]
rs2006387	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2024430	0.85[CHB][hapmap]
rs4720109	0.81[ASN][1000 genomes]
rs4720115	0.90[CHB][hapmap]
rs4723261	0.94[CHB][hapmap];0.82[ASN][1000 genomes]
rs4723263	0.90[JPT][hapmap]
rs4723265	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4723272	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4723273	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6462467	0.86[CHB][hapmap]
rs6950434	0.95[CHB][hapmap]
rs6960483	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6968400	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs721533	0.95[CHB][hapmap]
rs759396	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs764041	0.83[CHB][hapmap]
rs7776834	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7778657	0.86[CHB][hapmap]
rs7779367	0.86[CHB][hapmap]
rs7780194	0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs7781187	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7783610	0.95[CHB][hapmap];0.84[JPT][hapmap]
rs7791710	0.95[CHB][hapmap]
rs7793759	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7806637	0.82[ASN][1000 genomes]
rs964707	0.95[CHB][hapmap]
rs986553	0.95[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029220	chr7:32921484-33262190	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv830942	chr7:33048075-33246735	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv508450	chr7:33123335-33184848	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1033502	chr7:33124005-33185470	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1025361	chr7:33125663-33185470	Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv869720	chr7:33127192-33193580	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1026615	chr7:33128234-33185470	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1020741	chr7:33130675-33185470	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1027807	chr7:33130675-33190591	Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	esv2761318	chr7:33130687-33185482	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv464422	chr7:33131729-33187279	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription 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	12 gene(s)	inside rSNPs	diseases
12	nsv606606	chr7:33131729-33187279	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv606607	chr7:33131729-33192502	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv464423	chr7:33131729-33192800	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv606608	chr7:33131729-33192800	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	nsv520406	chr7:33131729-33192837	Enhancers Strong transcription Active TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
17	nsv606609	chr7:33131729-33196354	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
18	nsv1030007	chr7:33132814-33185470	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
19	nsv1028637	chr7:33133742-33185470	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
20	nsv830943	chr7:33167106-33352759	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
21	nsv933681	chr7:33169539-33185909	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
22	nsv933792	chr7:33169693-33216984	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
23	nsv532119	chr7:33169715-33186579	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33169400-33170800	Active TSS	Brain Germinal Matrix	brain
2	chr7:33169800-33171000	Enhancers	Spleen	Spleen
3	chr7:33170000-33170800	Active TSS	Brain Substantia Nigra	brain
4	chr7:33170000-33171000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr7:33170000-33171000	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr7:33170000-33171000	Enhancers	Fetal Heart	heart
7	chr7:33170000-33171000	Enhancers	Fetal Muscle Leg	muscle
8	chr7:33170000-33171000	Enhancers	Small Intestine	intestine
9	chr7:33170000-33176800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:33170000-33178400	Weak transcription	Left Ventricle	heart
11	chr7:33170200-33170800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:33170200-33170800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr7:33170200-33170800	Active TSS	Brain Angular Gyrus	brain
14	chr7:33170200-33170800	Enhancers	Brain Hippocampus Middle	brain
15	chr7:33170200-33170800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:33170200-33170800	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr7:33170200-33170800	Weak transcription	Ovary	ovary
18	chr7:33170200-33170800	Enhancers	Dnd41	blood
19	chr7:33170200-33171000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr7:33170200-33171000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr7:33170200-33171000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:33170200-33171000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:33170200-33171000	Enhancers	Adipose Nuclei	Adipose
24	chr7:33170200-33171000	Enhancers	Fetal Kidney	kidney
25	chr7:33170200-33171000	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr7:33170200-33171000	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr7:33170200-33171000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr7:33170200-33171000	Enhancers	Hela-S3	cervix
29	chr7:33170200-33171200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:33170200-33171200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr7:33170200-33171200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr7:33170200-33171200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr7:33170200-33171200	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr7:33170200-33171200	Enhancers	Colon Smooth Muscle	Colon
35	chr7:33170200-33171200	Weak transcription	Right Atrium	heart
36	chr7:33170200-33171200	Enhancers	HepG2	liver
37	chr7:33170200-33171400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:33170200-33171400	Enhancers	Duodenum Mucosa	Duodenum
39	chr7:33170200-33171600	Enhancers	Fetal Brain Female	brain
40	chr7:33170200-33171800	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr7:33170200-33171800	Enhancers	Brain Cingulate Gyrus	brain
42	chr7:33170200-33171800	Enhancers	Fetal Lung	lung
43	chr7:33170200-33172000	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr7:33170200-33173400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:33170200-33175200	Weak transcription	Fetal Muscle Trunk	muscle
46	chr7:33170200-33182000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr7:33170200-33185000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr7:33170200-33188400	Weak transcription	Psoas Muscle	Psoas
49	chr7:33170200-33205800	Weak transcription	Aorta	Aorta
50	chr7:33170400-33170800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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