Variant report

Variant	rs4945220
Chromosome Location	chr11:77528161-77528162
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:77521920..77524304-chr11:77525173..77528253,3	MCF-7	breast:
2	chr11:77515983..77518515-chr11:77527821..77530386,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10899399	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10899404	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11237263	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11237280	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11237318	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11600140	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11603438	0.82[EUR][1000 genomes]
rs11604207	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs11606549	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11607032	0.81[ASN][1000 genomes]
rs12285765	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12286317	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17752006	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1783544	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2154972	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs24356	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2508189	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34130561	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4322421	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4344516	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs484363	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs537811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56218634	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs588217	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs598071	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs614495	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs621456	0.84[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs623173	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs623907	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs628668	0.90[JPT][hapmap]
rs635195	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs636971	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs643388	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs648601	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs648896	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs650171	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs663674	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs667225	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs668701	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs670090	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs684813	0.89[CEU][hapmap];0.82[CHB][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs687037	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes]
rs694845	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs695046	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7122968	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7123080	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72945592	0.91[ASN][1000 genomes]
rs72945598	0.80[EUR][1000 genomes]
rs72947625	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72947668	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72949616	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72949618	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7950873	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs7951033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs947841	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[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	nsv1050891	chr11:77416645-77788002	Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1037292	chr11:77431583-77745934	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv541092	chr11:77431583-77745934	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv949316	chr11:77454076-77769885	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77475400-77529000	Weak transcription	NHLF	lung
2	chr11:77475400-77530000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:77495800-77528200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr11:77496000-77530200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:77503600-77529600	Weak transcription	Right Ventricle	heart
6	chr11:77505000-77528400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr11:77506800-77528200	Weak transcription	Brain Hippocampus Middle	brain
8	chr11:77509400-77528800	Weak transcription	Brain Germinal Matrix	brain
9	chr11:77509800-77530000	Weak transcription	NH-A	brain
10	chr11:77512000-77529600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr11:77512200-77529200	Weak transcription	Fetal Brain Female	brain
12	chr11:77512400-77530200	Weak transcription	Esophagus	oesophagus
13	chr11:77512400-77530600	Weak transcription	Lung	lung
14	chr11:77512600-77530600	Weak transcription	Spleen	Spleen
15	chr11:77512800-77529800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr11:77512800-77530400	Weak transcription	Gastric	stomach
17	chr11:77513200-77529400	Weak transcription	Small Intestine	intestine
18	chr11:77515400-77530000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:77516600-77530200	Weak transcription	HSMM	muscle
20	chr11:77517200-77529200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr11:77518400-77528400	Weak transcription	Osteobl	bone
22	chr11:77518400-77529200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr11:77518600-77530000	Weak transcription	Brain Substantia Nigra	brain
24	chr11:77518800-77530000	Weak transcription	Colonic Mucosa	Colon
25	chr11:77519000-77529400	Weak transcription	HUVEC	blood vessel
26	chr11:77519000-77530000	Weak transcription	Stomach Mucosa	stomach
27	chr11:77520000-77530000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr11:77520200-77528800	Weak transcription	Fetal Brain Male	brain
29	chr11:77521200-77529800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr11:77521400-77528400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:77522200-77529400	Weak transcription	Left Ventricle	heart
32	chr11:77522400-77529800	Weak transcription	Fetal Kidney	kidney
33	chr11:77522800-77528200	Weak transcription	Liver	Liver
34	chr11:77522800-77528400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr11:77522800-77529200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:77522800-77529400	Weak transcription	HSMMtube	muscle
37	chr11:77522800-77530000	Weak transcription	Adipose Nuclei	Adipose
38	chr11:77522800-77530200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr11:77523000-77529400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:77523200-77529800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:77523200-77530000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr11:77523200-77530200	Weak transcription	Placenta	Placenta
43	chr11:77523800-77528200	Weak transcription	Primary T cells from cord blood	blood
44	chr11:77523800-77529400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:77524600-77528200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr11:77524800-77528400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:77524800-77528400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr11:77524800-77529400	Weak transcription	Fetal Stomach	stomach
49	chr11:77524800-77529600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr11:77524800-77529600	Weak transcription	Fetal Thymus	thymus

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