Variant report

Variant	rs4438010
Chromosome Location	chr11:17941510-17941511
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17935692..17938067-chr11:17939398..17942112,2	MCF-7	breast:
2	chr11:17941038..17943989-chr11:17944479..17947250,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12290125	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17720417	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17720513	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17721184	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17794213	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs211126	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs211127	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs211134	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs211138	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2237912	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2237921	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2237924	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2283236	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2283239	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34614478	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs394218	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3993323	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3993324	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs440234	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4756927	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4757604	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4757605	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4757606	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61882454	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61882456	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61882460	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61882461	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61884488	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61884489	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61884492	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61884493	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61884494	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs758437	0.88[AMR][1000 genomes];0.95[EUR][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	nsv832078	chr11:17780503-17953521	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv897026	chr11:17823296-18084878	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv832079	chr11:17927967-18047743	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17838400-17971600	Weak transcription	Gastric	stomach
2	chr11:17864400-17944800	Weak transcription	Ovary	ovary
3	chr11:17882800-17943800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr11:17886000-17965200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr11:17895800-17943400	Weak transcription	Pancreas	Pancrea
6	chr11:17896000-17944600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr11:17896000-17968000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr11:17896400-17968000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr11:17898800-17944200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr11:17899200-17943400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:17906000-17970200	Weak transcription	Lung	lung
12	chr11:17910600-17947000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr11:17914600-17965400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr11:17915400-17943000	Weak transcription	Spleen	Spleen
15	chr11:17915800-17966000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr11:17917000-17943200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr11:17917000-17944600	Weak transcription	Brain Angular Gyrus	brain
18	chr11:17917000-17947600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr11:17920600-17976000	Weak transcription	Esophagus	oesophagus
20	chr11:17927600-17944600	Weak transcription	Left Ventricle	heart
21	chr11:17928600-17946200	Weak transcription	Fetal Thymus	thymus
22	chr11:17928600-17970200	Weak transcription	Thymus	Thymus
23	chr11:17929000-17942200	Weak transcription	Brain Anterior Caudate	brain
24	chr11:17929200-17954800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr11:17929400-17943000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr11:17933000-17956800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr11:17934400-18033600	Weak transcription	Small Intestine	intestine
28	chr11:17935000-17944600	Weak transcription	Fetal Stomach	stomach
29	chr11:17935200-17955000	Strong transcription	Primary T cells from cord blood	blood
30	chr11:17935400-17943000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:17935400-17946400	Weak transcription	Aorta	Aorta
32	chr11:17935600-17943600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:17935600-17944600	Weak transcription	Right Ventricle	heart
34	chr11:17937400-17950600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:17937600-17942000	Weak transcription	Liver	Liver
36	chr11:17937600-17942600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:17937600-17944600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr11:17937600-17944600	Weak transcription	Right Atrium	heart
39	chr11:17937600-17949000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:17937600-17977000	Weak transcription	Colon Smooth Muscle	Colon
41	chr11:17937800-17942200	Weak transcription	Psoas Muscle	Psoas
42	chr11:17937800-17942200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr11:17937800-17942200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr11:17937800-17943200	Weak transcription	Fetal Muscle Leg	muscle
45	chr11:17937800-17943200	Weak transcription	HSMM	muscle
46	chr11:17937800-17943800	Weak transcription	Fetal Intestine Small	intestine
47	chr11:17937800-17951800	Weak transcription	HSMMtube	muscle
48	chr11:17937800-17965800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr11:17938000-17942200	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr11:17938200-17943200	Weak transcription	K562	blood

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