Variant report

Variant	rs1262864
Chromosome Location	chr13:50931976-50931977
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50931295..50934143-chr13:50939870..50941977,3	MCF-7	breast:
2	chr13:50931287..50933893-chr13:50934421..50935929,2	MCF-7	breast:
3	chr13:50929441..50932225-chr13:50939480..50941358,2	MCF-7	breast:
4	chr13:50699179..50702068-chr13:50931716..50934137,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223676	Chromatin interaction
ENSG00000231607	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1149851	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1149852	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1149853	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1149857	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1149859	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1149860	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1149866	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1149870	0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1262862	1.00[ASW][hapmap];0.85[CEU][hapmap];0.84[CHD][hapmap];0.87[GIH][hapmap];0.86[MEX][hapmap];0.82[MKK][hapmap];0.89[TSI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1262863	0.85[CEU][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1262867	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1269266	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1269268	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1269269	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1269274	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1269276	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1269278	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1269281	0.92[CEU][hapmap];0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1319883	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1326128	0.86[ASN][1000 genomes]
rs1886200	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1924370	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2532964	0.81[CEU][hapmap];0.84[CHD][hapmap];0.80[TSI][hapmap];0.83[EUR][1000 genomes]
rs2762042	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2762043	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2762046	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2762048	1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs2762065	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2762066	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2812213	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2812215	0.81[ASW][hapmap];0.82[CHD][hapmap];0.85[GIH][hapmap];0.80[TSI][hapmap];0.83[EUR][1000 genomes]
rs4340216	0.81[ASN][1000 genomes]
rs752213	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs806303	0.83[EUR][1000 genomes]
rs806308	0.91[GIH][hapmap];0.81[TSI][hapmap]
rs806311	0.86[ASN][1000 genomes]
rs806312	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50926600-50933000	Enhancers	Liver	Liver
2	chr13:50926600-50934800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr13:50928400-50932400	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr13:50928600-50932400	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr13:50929200-50934200	Weak transcription	Lung	lung
6	chr13:50929200-50934400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:50929400-50932400	Weak transcription	Thymus	Thymus
8	chr13:50929600-50932400	Weak transcription	Dnd41	blood
9	chr13:50929600-50932600	Weak transcription	Primary B cells from cord blood	blood
10	chr13:50929800-50933800	Weak transcription	Primary T cells from cord blood	blood
11	chr13:50930000-50932800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr13:50930000-50935800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr13:50930200-50932400	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr13:50930200-50933600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr13:50930200-50939200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr13:50930200-50939600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr13:50930400-50932200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr13:50930400-50932400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr13:50930400-50932600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr13:50930400-50932600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr13:50930600-50932400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr13:50930800-50933800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr13:50930800-50934000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr13:50930800-50935000	Enhancers	Fetal Thymus	thymus
25	chr13:50931000-50932800	Enhancers	Placenta Amnion	Placenta Amnion
26	chr13:50931000-50932800	Enhancers	NHDF-Ad	bronchial
27	chr13:50931000-50933000	Enhancers	Fetal Muscle Leg	muscle
28	chr13:50931000-50933200	Enhancers	Fetal Heart	heart
29	chr13:50931000-50933400	Enhancers	Fetal Lung	lung
30	chr13:50931200-50932200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr13:50931200-50932400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr13:50931200-50932800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr13:50931200-50932800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr13:50931200-50932800	Enhancers	Fetal Kidney	kidney
35	chr13:50931200-50932800	Enhancers	Fetal Stomach	stomach
36	chr13:50931200-50932800	Enhancers	Gastric	stomach
37	chr13:50931200-50932800	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr13:50931200-50932800	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr13:50931200-50932800	Enhancers	K562	blood
40	chr13:50931200-50932800	Enhancers	NHLF	lung
41	chr13:50931200-50932800	Enhancers	Osteobl	bone
42	chr13:50931200-50933000	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr13:50931200-50933000	Enhancers	NH-A	brain
44	chr13:50931200-50933200	Enhancers	Brain Hippocampus Middle	brain
45	chr13:50931200-50933400	Enhancers	Colon Smooth Muscle	Colon
46	chr13:50931200-50933600	Enhancers	Rectal Smooth Muscle	rectum
47	chr13:50931400-50932000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr13:50931400-50932000	Enhancers	Placenta	Placenta
49	chr13:50931400-50932000	Enhancers	Ovary	ovary
50	chr13:50931400-50932200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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