Variant report

Variant	rs6561512
Chromosome Location	chr13:49840024-49840025
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:49839099..49842026-chr13:49843722..49845572,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1924658	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4942807	1.00[EUR][1000 genomes]
rs57277286	1.00[EUR][1000 genomes]
rs57541605	1.00[EUR][1000 genomes]
rs57590763	1.00[EUR][1000 genomes]
rs58064396	1.00[EUR][1000 genomes]
rs58096573	1.00[EUR][1000 genomes]
rs58372993	1.00[EUR][1000 genomes]
rs58588833	1.00[EUR][1000 genomes]
rs61192069	1.00[EUR][1000 genomes]
rs61517389	1.00[EUR][1000 genomes]
rs6561513	0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6561514	0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6650333	1.00[EUR][1000 genomes]
rs7325076	1.00[EUR][1000 genomes]
rs9316432	1.00[EUR][1000 genomes]
rs9535186	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs9568185	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS 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 target site	42 gene(s)	inside rSNPs	diseases
2	nsv832607	chr13:49756458-49920894	Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv900069	chr13:49815405-49976393	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49823000-49844200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:49823400-49844000	Weak transcription	A549	lung
3	chr13:49823600-49843200	Weak transcription	NHEK	skin
4	chr13:49823800-49855400	Weak transcription	Small Intestine	intestine
5	chr13:49826600-49877800	Weak transcription	Psoas Muscle	Psoas
6	chr13:49831200-49845200	Weak transcription	NH-A	brain
7	chr13:49832000-49843000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr13:49832800-49844800	Strong transcription	Dnd41	blood
9	chr13:49832800-49860600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr13:49832800-49862800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr13:49833000-49865600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr13:49833200-49852600	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr13:49833200-49863800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr13:49833200-49866600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr13:49834000-49846400	Weak transcription	Pancreas	Pancrea
16	chr13:49834200-49855600	Weak transcription	Fetal Intestine Small	intestine
17	chr13:49834200-49875200	Weak transcription	Gastric	stomach
18	chr13:49834600-49845600	Weak transcription	Fetal Kidney	kidney
19	chr13:49834600-49867000	Weak transcription	Thymus	Thymus
20	chr13:49834800-49841400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr13:49834800-49841400	Weak transcription	HUVEC	blood vessel
22	chr13:49834800-49853200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr13:49834800-49873000	Weak transcription	HMEC	breast
24	chr13:49834800-49875400	Weak transcription	Esophagus	oesophagus
25	chr13:49835200-49843800	Weak transcription	NHLF	lung
26	chr13:49835200-49846800	Weak transcription	HepG2	liver
27	chr13:49835400-49862200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr13:49835600-49841600	Weak transcription	Lung	lung
29	chr13:49835600-49841800	Weak transcription	Osteobl	bone
30	chr13:49835600-49843200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr13:49835600-49843600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr13:49835600-49846600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr13:49835600-49846800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr13:49835600-49866800	Weak transcription	Brain Angular Gyrus	brain
35	chr13:49835600-49866800	Weak transcription	Brain Germinal Matrix	brain
36	chr13:49835600-49867000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr13:49835600-49867000	Weak transcription	Fetal Brain Male	brain
38	chr13:49835800-49841600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr13:49835800-49842000	Weak transcription	HSMMtube	muscle
40	chr13:49835800-49845600	Weak transcription	Fetal Heart	heart
41	chr13:49835800-49853000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr13:49835800-49863600	Weak transcription	Right Ventricle	heart
43	chr13:49835800-49875200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr13:49835800-49875200	Weak transcription	GM12878-XiMat	blood
45	chr13:49836000-49840800	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr13:49836000-49851800	Weak transcription	Placenta	Placenta
47	chr13:49836000-49866800	Weak transcription	Colon Smooth Muscle	Colon
48	chr13:49836200-49841800	Weak transcription	HSMM	muscle
49	chr13:49836200-49842200	Weak transcription	Fetal Brain Female	brain
50	chr13:49836200-49856600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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