Variant report

Variant	rs34099416
Chromosome Location	chr8:48278110-48278111
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	chr8:48276921..48279533-chr8:48290586..48293171,2	MCF-7	breast:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1038797	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs10808752	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10957074	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11774001	0.97[EUR][1000 genomes]
rs11775514	0.91[EUR][1000 genomes]
rs11775628	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11779308	0.80[EUR][1000 genomes]
rs11779423	0.81[EUR][1000 genomes]
rs11781727	1.00[CEU][hapmap];0.81[CHD][hapmap];0.98[TSI][hapmap];0.94[EUR][1000 genomes]
rs11783141	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11784823	1.00[ASW][hapmap];0.82[CHB][hapmap];0.83[CHD][hapmap];0.87[GIH][hapmap];0.94[JPT][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap]
rs11785228	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12541086	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12543823	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12547513	0.96[EUR][1000 genomes]
rs12680669	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12682269	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs13259872	0.81[EUR][1000 genomes]
rs13259913	0.95[EUR][1000 genomes]
rs16926260	1.00[YRI][hapmap]
rs2087656	1.00[CEU][hapmap];0.82[CHD][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs2130879	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2172121	1.00[CEU][hapmap];0.82[CHD][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs2362554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35045730	0.95[EUR][1000 genomes]
rs35235599	0.80[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4242439	0.81[EUR][1000 genomes]
rs4388466	0.82[EUR][1000 genomes]
rs4498545	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4536257	0.83[CHD][hapmap];0.94[JPT][hapmap]
rs4872957	0.81[EUR][1000 genomes]
rs4873102	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHD][hapmap];0.91[LWK][hapmap];0.95[TSI][hapmap];0.97[EUR][1000 genomes]
rs4873106	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4873292	0.83[ASN][1000 genomes]
rs4873293	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4873368	0.82[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs4873477	1.00[YRI][hapmap]
rs6472229	0.93[EUR][1000 genomes]
rs6981790	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6990123	0.96[EUR][1000 genomes]
rs6994218	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7002441	1.00[YRI][hapmap]
rs7012341	0.97[EUR][1000 genomes]
rs7819806	0.81[EUR][1000 genomes]
rs7826284	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs7839134	0.91[EUR][1000 genomes]
rs876915	0.82[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs902619	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015347	chr8:47698082-48318579	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv539593	chr8:47698082-48318579	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats 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	34 gene(s)	inside rSNPs	diseases
3	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	esv2758155	chr8:48188989-48321308	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2759610	chr8:48188989-48321308	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv1817304	chr8:48205314-48321308	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1034660	chr8:48265109-48411279	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48248800-48309600	Weak transcription	Thymus	Thymus
2	chr8:48249200-48282000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:48256400-48281000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr8:48262400-48309600	Weak transcription	Fetal Stomach	stomach
5	chr8:48263200-48297200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:48265600-48280200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:48266600-48278800	Weak transcription	Colon Smooth Muscle	Colon
8	chr8:48266600-48297200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:48266800-48280200	Weak transcription	Primary B cells from cord blood	blood
10	chr8:48266800-48290200	Weak transcription	HSMMtube	muscle
11	chr8:48266800-48297000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr8:48267000-48295400	Weak transcription	HSMM	muscle
13	chr8:48267800-48295000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:48269800-48281200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:48270000-48282000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:48272200-48280400	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr8:48272400-48279600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:48272400-48281800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr8:48274000-48279400	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr8:48274200-48282400	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr8:48274600-48279000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr8:48274800-48278400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr8:48274800-48278400	Enhancers	Hela-S3	cervix
24	chr8:48274800-48279200	Enhancers	Adipose Nuclei	Adipose
25	chr8:48274800-48279800	Weak transcription	Aorta	Aorta
26	chr8:48274800-48281600	Weak transcription	GM12878-XiMat	blood
27	chr8:48275000-48278600	Weak transcription	Gastric	stomach
28	chr8:48275000-48281000	Weak transcription	Primary B cells from peripheral blood	blood
29	chr8:48275200-48278400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:48275400-48279400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr8:48275600-48278600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:48276000-48280400	Enhancers	Fetal Intestine Large	intestine
33	chr8:48276200-48278800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:48276200-48278800	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr8:48276200-48278800	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr8:48276200-48279000	Enhancers	Left Ventricle	heart
37	chr8:48276200-48279600	Enhancers	Liver	Liver
38	chr8:48276200-48280400	Enhancers	Small Intestine	intestine
39	chr8:48276200-48283000	Enhancers	Fetal Lung	lung
40	chr8:48276400-48278600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr8:48276400-48280400	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr8:48276600-48278200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr8:48276600-48280400	Enhancers	Stomach Mucosa	stomach
44	chr8:48276600-48280800	Enhancers	Pancreas	Pancrea
45	chr8:48276800-48278200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr8:48276800-48278200	Enhancers	Right Ventricle	heart
47	chr8:48276800-48279000	Enhancers	Primary T cells fromperipheralblood	blood
48	chr8:48276800-48279000	Enhancers	Spleen	Spleen
49	chr8:48276800-48279000	Enhancers	Dnd41	blood
50	chr8:48276800-48279200	Enhancers	Lung	lung

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