Variant report

Variant	rs7113194
Chromosome Location	chr11:46696480-46696481
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46379173..46381825-chr11:46695646..46697480,2	MCF-7	breast:
2	chr11:46696016..46696590-chr13:45914043..45914860,2	NB4	blood:
3	chr11:46693318..46696713-chr11:46720751..46722986,3	MCF-7	breast:
4	chr11:46696407..46698533-chr11:46699721..46701247,2	MCF-7	breast:
5	chr11:46690029..46694256-chr11:46694840..46696988,3	K562	blood:
6	chr11:46619474..46621047-chr11:46695380..46697232,2	K562	blood:
7	chr11:46696193..46697049-chr13:22177829..22178449,2	NB4	blood:

Variant related genes	Relation type
ENSG00000273149	Chromatin interaction
ENSG00000133112	Chromatin interaction
ENSG00000175220	Chromatin interaction
ENSG00000165487	Chromatin interaction
ENSG00000175213	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11038916	0.92[YRI][hapmap];0.83[AMR][1000 genomes]
rs11038934	0.83[AMR][1000 genomes]
rs11038967	0.88[ASW][hapmap];0.90[LWK][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11819818	0.92[YRI][hapmap];0.83[AMR][1000 genomes]
rs12276664	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs12278517	0.92[YRI][hapmap];0.83[AMR][1000 genomes]
rs12278651	0.83[AMR][1000 genomes]
rs12290327	0.92[YRI][hapmap]
rs12292399	0.92[YRI][hapmap]
rs3136452	0.92[MKK][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs3136455	0.92[MKK][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs3136483	0.83[AMR][1000 genomes]
rs73451889	0.85[AMR][1000 genomes]
rs7952678	0.91[YRI][hapmap];0.83[AMR][1000 genomes]

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	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking 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	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46667200-46717000	Strong transcription	Brain Germinal Matrix	brain
2	chr11:46689200-46696600	Strong transcription	Fetal Stomach	stomach
3	chr11:46689600-46706200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:46691400-46698800	Genic enhancers	Fetal Thymus	thymus
5	chr11:46691400-46699000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr11:46691600-46705600	Weak transcription	Fetal Brain Male	brain
7	chr11:46691600-46709200	Weak transcription	HUVEC	blood vessel
8	chr11:46691800-46699200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:46692600-46699000	Genic enhancers	Fetal Muscle Trunk	muscle
10	chr11:46693200-46697200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:46693200-46700200	Weak transcription	GM12878-XiMat	blood
12	chr11:46694400-46699600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr11:46694800-46697200	Genic enhancers	Thymus	Thymus
14	chr11:46695000-46697800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:46695000-46699000	Genic enhancers	Fetal Intestine Small	intestine
16	chr11:46695200-46696600	Weak transcription	NH-A	brain
17	chr11:46695200-46697200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr11:46695200-46697600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:46695200-46698200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr11:46695200-46698600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:46695200-46699000	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr11:46695200-46699000	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr11:46695200-46701600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr11:46695400-46696600	Enhancers	Primary T cells from cord blood	blood
25	chr11:46695400-46696600	Genic enhancers	Stomach Smooth Muscle	stomach
26	chr11:46695400-46697000	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr11:46695400-46697400	Enhancers	Primary B cells from cord blood	blood
28	chr11:46695400-46697400	Enhancers	Fetal Lung	lung
29	chr11:46695400-46697600	Enhancers	Esophagus	oesophagus
30	chr11:46695400-46698000	Enhancers	Liver	Liver
31	chr11:46695400-46698600	Genic enhancers	Brain Inferior Temporal Lobe	brain
32	chr11:46695400-46699800	Weak transcription	K562	blood
33	chr11:46695600-46696600	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr11:46695600-46696600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:46695600-46697200	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr11:46695600-46697400	Enhancers	H1 Cell Line	embryonic stem cell
37	chr11:46695600-46697400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr11:46695600-46697400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:46695600-46697400	Enhancers	Small Intestine	intestine
40	chr11:46695600-46697600	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr11:46695600-46698000	Enhancers	Fetal Intestine Large	intestine
42	chr11:46695600-46698000	Enhancers	Pancreas	Pancrea
43	chr11:46695600-46698200	Enhancers	Left Ventricle	heart
44	chr11:46695600-46699000	Enhancers	Primary B cells from peripheral blood	blood
45	chr11:46695600-46699000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr11:46695600-46699000	Enhancers	Right Atrium	heart
47	chr11:46695600-46700000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:46695600-46700200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr11:46695600-46700200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr11:46695600-46700400	Genic enhancers	Spleen	Spleen

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