Variant report

Variant	rs61129651
Chromosome Location	chr11:16999373-16999374
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HDAC2	chr11:16999291-16999750	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:16997842..17006545-chr11:17033236..17037894,15	MCF-7	breast:
2	chr11:16996626..17000145-chr11:17001852..17005291,4	K562	blood:
3	chr11:16999245..17001608-chr11:17002120..17006650,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000244398	TF binding region
RNU6-585P	TF binding region
ENSG00000166689	Chromatin interaction
ENSG00000184669	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11024078	1.00[EUR][1000 genomes]
rs11024091	1.00[EUR][1000 genomes]
rs11024092	1.00[EUR][1000 genomes]
rs12275536	1.00[EUR][1000 genomes]
rs12276960	1.00[EUR][1000 genomes]
rs12278736	1.00[EUR][1000 genomes]
rs12278828	1.00[EUR][1000 genomes]
rs12280548	1.00[EUR][1000 genomes]
rs12292955	1.00[EUR][1000 genomes]
rs16933508	1.00[EUR][1000 genomes]
rs16933515	1.00[EUR][1000 genomes]
rs16933529	1.00[EUR][1000 genomes]
rs16933548	1.00[EUR][1000 genomes]
rs16933592	1.00[EUR][1000 genomes]
rs16933661	1.00[EUR][1000 genomes]
rs2190751	1.00[EUR][1000 genomes]
rs56918856	1.00[EUR][1000 genomes]
rs57289260	1.00[EUR][1000 genomes]
rs57818898	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58540437	1.00[EUR][1000 genomes]
rs60553604	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60977991	1.00[EUR][1000 genomes]
rs61217675	1.00[EUR][1000 genomes]
rs61475718	1.00[EUR][1000 genomes]
rs6486314	1.00[EUR][1000 genomes]
rs6486315	1.00[EUR][1000 genomes]
rs6486316	1.00[EUR][1000 genomes]
rs7102075	1.00[EUR][1000 genomes]
rs7102357	1.00[EUR][1000 genomes]
rs7103382	1.00[EUR][1000 genomes]
rs7117859	1.00[EUR][1000 genomes]
rs7119994	1.00[EUR][1000 genomes]
rs7122601	1.00[EUR][1000 genomes]
rs7129494	1.00[EUR][1000 genomes]
rs73423200	1.00[EUR][1000 genomes]
rs73425209	1.00[EUR][1000 genomes]
rs73425215	1.00[EUR][1000 genomes]
rs73425221	1.00[EUR][1000 genomes]
rs73425302	1.00[EUR][1000 genomes]
rs73427252	1.00[EUR][1000 genomes]
rs73427255	1.00[EUR][1000 genomes]
rs73427263	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7927866	1.00[EUR][1000 genomes]
rs7935333	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7944088	1.00[EUR][1000 genomes]
rs7946609	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16981800-17002800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr11:16982200-17003800	Weak transcription	Right Ventricle	heart
3	chr11:16991400-17002800	Weak transcription	Right Atrium	heart
4	chr11:16991800-17001000	Weak transcription	Fetal Kidney	kidney
5	chr11:16991800-17001000	Weak transcription	HepG2	liver
6	chr11:16992000-17001200	Weak transcription	Liver	Liver
7	chr11:16992200-17007400	Weak transcription	Colonic Mucosa	Colon
8	chr11:16994200-17000800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:16994600-16999400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr11:16997400-17000000	Enhancers	Brain Hippocampus Middle	brain
11	chr11:16997400-17000600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr11:16997400-17000800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:16997400-17002000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr11:16997600-17000800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:16997600-17003000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:16997600-17003200	Enhancers	Brain Anterior Caudate	brain
17	chr11:16997600-17004600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:16997800-16999600	Enhancers	Pancreas	Pancrea
19	chr11:16998000-16999400	Enhancers	Esophagus	oesophagus
20	chr11:16998000-17000400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:16998000-17002200	Enhancers	Gastric	stomach
22	chr11:16998000-17005000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:16998000-17009000	Enhancers	Stomach Mucosa	stomach
24	chr11:16998000-17011800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr11:16998200-17000200	Enhancers	Brain Cingulate Gyrus	brain
26	chr11:16998200-17000400	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr11:16998200-17000800	Enhancers	Brain Substantia Nigra	brain
28	chr11:16998200-17001400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:16998200-17001400	Weak transcription	Lung	lung
30	chr11:16998200-17003200	Weak transcription	Aorta	Aorta
31	chr11:16998400-17000000	Enhancers	Fetal Intestine Large	intestine
32	chr11:16998600-16999600	Weak transcription	Brain Germinal Matrix	brain
33	chr11:16998600-17001400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr11:16998600-17004200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:16998800-16999800	Enhancers	Placenta	Placenta
36	chr11:16998800-17001000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:16998800-17002800	Weak transcription	Fetal Brain Male	brain
38	chr11:16998800-17007800	Genic enhancers	Fetal Intestine Small	intestine
39	chr11:16999000-16999800	Weak transcription	Brain Angular Gyrus	brain
40	chr11:16999000-17000000	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr11:16999000-17000000	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr11:16999000-17000400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:16999000-17000400	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr11:16999000-17000400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr11:16999000-17000400	Enhancers	Duodenum Mucosa	Duodenum
46	chr11:16999000-17003000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:16999200-16999600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr11:16999200-17000000	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr11:16999200-17000200	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr11:16999200-17000200	Enhancers	Cortex derived primary cultured neurospheres	brain

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