Variant report

Variant	rs11628525
Chromosome Location	chr14:72022891-72022892
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	chr14:71787679..71789228-chr14:72021857..72023772,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259146	Chromatin interaction
ENSG00000197555	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10136590	0.86[EUR][1000 genomes]
rs11627930	0.91[EUR][1000 genomes]
rs12878009	0.84[CHB][hapmap]
rs12897119	0.85[CHB][hapmap]
rs12897977	0.81[EUR][1000 genomes]
rs1859551	0.84[TSI][hapmap]
rs193440	0.85[CHB][hapmap]
rs2041330	0.84[CHB][hapmap];1.00[YRI][hapmap]
rs3784063	0.85[EUR][1000 genomes]
rs4464023	0.85[CHB][hapmap];0.85[TSI][hapmap]
rs4899396	0.84[ASN][1000 genomes]
rs4902939	0.91[EUR][1000 genomes]
rs7141155	0.96[CEU][hapmap];0.84[GIH][hapmap];0.80[MEX][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes]
rs8007521	0.85[CHB][hapmap]
rs8023058	0.85[CHB][hapmap];0.80[MEX][hapmap];0.85[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498021	chr14:71874708-72128721	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3398985	chr14:71927884-72404676	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11628525	SLC8A3	cis	cerebellum	SCAN
rs11628525	SNORD56B	cis	lymphoblastoid	seeQTL

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72015600-72023000	Weak transcription	Pancreas	Pancrea
2	chr14:72018000-72030000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr14:72019000-72023200	Weak transcription	HSMM	muscle
4	chr14:72019400-72023800	Enhancers	Primary B cells from peripheral blood	blood
5	chr14:72019600-72024400	Enhancers	Fetal Intestine Large	intestine
6	chr14:72019800-72023000	Weak transcription	Brain Angular Gyrus	brain
7	chr14:72020000-72024000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
8	chr14:72020800-72023400	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr14:72021000-72024400	Enhancers	Fetal Intestine Small	intestine
10	chr14:72021200-72023400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr14:72021200-72023400	Flanking Active TSS	Dnd41	blood
12	chr14:72021200-72023800	Enhancers	Hela-S3	cervix
13	chr14:72021800-72023200	Enhancers	NHDF-Ad	bronchial
14	chr14:72021800-72023600	Enhancers	HepG2	liver
15	chr14:72021800-72023800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr14:72021800-72023800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr14:72021800-72023800	Enhancers	Fetal Thymus	thymus
18	chr14:72021800-72023800	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr14:72021800-72023800	Enhancers	Small Intestine	intestine
20	chr14:72021800-72023800	Enhancers	K562	blood
21	chr14:72022000-72023000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr14:72022000-72023600	Enhancers	Colonic Mucosa	Colon
23	chr14:72022000-72024400	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr14:72022200-72023000	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr14:72022200-72024400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr14:72022200-72024400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr14:72022400-72023000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr14:72022400-72023000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:72022400-72023200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:72022400-72023200	Enhancers	Lung	lung
31	chr14:72022400-72023200	Enhancers	NHEK	skin
32	chr14:72022400-72023400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr14:72022400-72023600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr14:72022400-72023800	Enhancers	Primary T cells fromperipheralblood	blood
35	chr14:72022400-72024600	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr14:72022400-72024800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr14:72022600-72023000	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr14:72022600-72023200	Enhancers	Liver	Liver
39	chr14:72022600-72023200	Flanking Active TSS	GM12878-XiMat	blood
40	chr14:72022600-72023400	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr14:72022600-72023600	Enhancers	Primary hematopoietic stem cells	blood
42	chr14:72022600-72023800	Enhancers	Spleen	Spleen
43	chr14:72022600-72024000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr14:72022600-72024200	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr14:72022600-72024400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr14:72022600-72024400	Enhancers	Thymus	Thymus
47	chr14:72022600-72024800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr14:72022600-72040200	Weak transcription	Osteobl	bone
49	chr14:72022800-72023000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr14:72022800-72023200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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