Variant report

Variant	rs11956853
Chromosome Location	chr5:36900550-36900551
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:36876319..36879960-chr5:36897656..36900567,3	K562	blood:
2	chr5:36899113..36901720-chr5:36902343..36906558,3	MCF-7	breast:
3	chr5:36876394..36879869-chr5:36897749..36901250,6	MCF-7	breast:
4	chr5:36876013..36877859-chr5:36897523..36900739,3	K562	blood:

Variant related genes	Relation type
ENSG00000164190	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10041439	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10044651	0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10053695	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10056607	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10214226	1.00[MEX][hapmap]
rs10223124	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1389861	0.94[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs149459	1.00[ASW][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap]
rs150537	0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs159750	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs159754	1.00[ASW][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs159911	1.00[AMR][1000 genomes]
rs159912	1.00[AMR][1000 genomes]
rs28408500	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs294690	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs294691	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs294692	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs294693	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs294696	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs294698	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs297538	0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs298970	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs300047	1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs300048	1.00[AMR][1000 genomes]
rs300056	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs300057	1.00[AMR][1000 genomes]
rs300059	1.00[AMR][1000 genomes]
rs301858	1.00[AMR][1000 genomes]
rs301900	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs391366	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs463041	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs55786650	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59774526	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6863784	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73750906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73750908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7702256	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7724311	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7735990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9292646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9764719	0.98[AFR][1000 genomes];1.00[AMR][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	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv532133	chr5:36834932-36906436	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
5	nsv530225	chr5:36886635-37331912	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv830264	chr5:36887002-36941494	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1024051	chr5:36899712-37303001	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	nsv537725	chr5:36899712-37303001	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36881000-36900600	Weak transcription	Osteobl	bone
2	chr5:36886400-36904800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr5:36886600-36904800	Weak transcription	Right Ventricle	heart
4	chr5:36886600-36909200	Weak transcription	Left Ventricle	heart
5	chr5:36886600-36910400	Weak transcription	Ovary	ovary
6	chr5:36888200-36902400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:36888200-36910400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:36888800-36911000	Weak transcription	Fetal Lung	lung
9	chr5:36889600-36901200	Weak transcription	Primary B cells from peripheral blood	blood
10	chr5:36892200-36901600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr5:36895400-36900800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:36895800-36902200	Weak transcription	Primary B cells from cord blood	blood
13	chr5:36895800-36918800	Weak transcription	Small Intestine	intestine
14	chr5:36895800-36928600	Weak transcription	HSMM	muscle
15	chr5:36896200-36908000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr5:36896400-36904600	Weak transcription	Primary T cells from cord blood	blood
17	chr5:36896600-36904400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:36897400-36901000	Enhancers	Fetal Heart	heart
19	chr5:36897400-36904200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:36897600-36901800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:36897800-36903600	Weak transcription	NHLF	lung
22	chr5:36898000-36900600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:36898000-36902800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr5:36898000-36907200	Weak transcription	Stomach Mucosa	stomach
25	chr5:36898200-36900600	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr5:36898200-36901200	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr5:36898400-36905600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr5:36899000-36904200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr5:36899000-36926400	Weak transcription	Gastric	stomach
30	chr5:36899400-36900800	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr5:36899600-36900600	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr5:36899600-36902600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr5:36899800-36900600	Enhancers	Rectal Smooth Muscle	rectum
34	chr5:36899800-36901200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:36899800-36901200	Enhancers	Adipose Nuclei	Adipose
36	chr5:36899800-36904200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr5:36900000-36900600	Weak transcription	A549	lung
38	chr5:36900000-36900600	Weak transcription	NHDF-Ad	bronchial
39	chr5:36900000-36900800	Enhancers	Brain Anterior Caudate	brain
40	chr5:36900000-36901200	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr5:36900000-36902400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr5:36900000-36902800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr5:36900200-36901000	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr5:36900200-36902200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr5:36900200-36908400	Weak transcription	Colon Smooth Muscle	Colon
46	chr5:36900400-36900600	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr5:36900400-36900600	Enhancers	Psoas Muscle	Psoas
48	chr5:36900400-36900600	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr5:36900400-36900800	Enhancers	H9 Cell Line	embryonic stem cell
50	chr5:36900400-36900800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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