Variant report

Variant	rs7116057
Chromosome Location	chr11:16998328-16998329
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:16997178..16999092-chr11:17003135..17008712,4	MCF-7	breast:
2	chr11:16997842..17006545-chr11:17033236..17037894,15	MCF-7	breast:
3	chr11:16995340..16999228-chr11:17033547..17036418,3	MCF-7	breast:
4	chr11:16996626..17000145-chr11:17001852..17005291,4	K562	blood:

Variant related genes	Relation type
ENSG00000166689	Chromatin interaction
ENSG00000184669	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12787236	1.00[JPT][hapmap]
rs4756879	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756880	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757463	0.85[YRI][hapmap]
rs7108957	1.00[AMR][1000 genomes]
rs7113161	1.00[EUR][1000 genomes];1.00[ASN][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	nsv832077	chr11:16834545-17059176	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv3436157	chr11:16994276-16998574	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16981800-17002800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr11:16982200-16999000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr11:16982200-17003800	Weak transcription	Right Ventricle	heart
4	chr11:16990000-16999000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:16990200-16999200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:16991400-16999200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:16991400-17002800	Weak transcription	Right Atrium	heart
8	chr11:16991800-17001000	Weak transcription	Fetal Kidney	kidney
9	chr11:16991800-17001000	Weak transcription	HepG2	liver
10	chr11:16992000-17001200	Weak transcription	Liver	Liver
11	chr11:16992200-17007400	Weak transcription	Colonic Mucosa	Colon
12	chr11:16992400-16998400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr11:16992800-16999000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr11:16993800-16998400	Weak transcription	Fetal Intestine Large	intestine
15	chr11:16993800-16999000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr11:16994200-17000800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:16994600-16999400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr11:16997400-16998800	Strong transcription	Fetal Intestine Small	intestine
19	chr11:16997400-17000000	Enhancers	Brain Hippocampus Middle	brain
20	chr11:16997400-17000600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr11:16997400-17000800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:16997400-17002000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr11:16997600-16998400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:16997600-17000800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:16997600-17003000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:16997600-17003200	Enhancers	Brain Anterior Caudate	brain
27	chr11:16997600-17004600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:16997800-16999000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:16997800-16999600	Enhancers	Pancreas	Pancrea
30	chr11:16998000-16999400	Enhancers	Esophagus	oesophagus
31	chr11:16998000-17000400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:16998000-17002200	Enhancers	Gastric	stomach
33	chr11:16998000-17005000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:16998000-17009000	Enhancers	Stomach Mucosa	stomach
35	chr11:16998000-17011800	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr11:16998200-16999000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr11:16998200-17000200	Enhancers	Brain Cingulate Gyrus	brain
38	chr11:16998200-17000400	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr11:16998200-17000800	Enhancers	Brain Substantia Nigra	brain
40	chr11:16998200-17001400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:16998200-17001400	Weak transcription	Lung	lung
42	chr11:16998200-17003200	Weak transcription	Aorta	Aorta

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