Variant report

Variant	rs947836
Chromosome Location	chr11:73080310-73080311
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:73077441..73084740-chr11:73085851..73089070,9	MCF-7	breast:
2	chr11:73079168..73080980-chr11:73086262..73088636,4	MCF-7	breast:
3	chr11:73080164..73081706-chr11:73085132..73087925,2	K562	blood:
4	chr11:73076245..73078869-chr11:73079244..73081978,2	K562	blood:
5	chr11:73078824..73081761-chr11:73082100..73086091,3	MCF-7	breast:
6	chr11:73071656..73075971-chr11:73080166..73082943,5	K562	blood:
7	chr11:73074976..73078822-chr11:73079717..73084977,8	MCF-7	breast:
8	chr11:73080164..73083221-chr11:73084640..73087925,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000110237	Chromatin interaction
ENSG00000054967	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs12280876	1.00[EUR][1000 genomes]
rs12284174	1.00[EUR][1000 genomes]
rs12291164	1.00[EUR][1000 genomes]
rs28719552	1.00[EUR][1000 genomes]
rs3933402	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55851019	1.00[EUR][1000 genomes]
rs56024886	1.00[EUR][1000 genomes]
rs57727431	0.91[ASN][1000 genomes]
rs57792931	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57860998	1.00[ASN][1000 genomes]
rs58053874	1.00[EUR][1000 genomes]
rs58460917	1.00[EUR][1000 genomes]
rs58965711	1.00[EUR][1000 genomes]
rs58995758	1.00[EUR][1000 genomes]
rs59268601	1.00[EUR][1000 genomes]
rs59271755	1.00[EUR][1000 genomes]
rs59376886	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59804106	1.00[EUR][1000 genomes]
rs60038108	0.91[ASN][1000 genomes]
rs60206663	1.00[EUR][1000 genomes]
rs60436721	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60610185	1.00[EUR][1000 genomes]
rs60779105	1.00[EUR][1000 genomes]
rs61086238	1.00[EUR][1000 genomes]
rs61122124	1.00[EUR][1000 genomes]
rs61218298	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61260942	1.00[EUR][1000 genomes]
rs61400770	1.00[EUR][1000 genomes]
rs61654355	1.00[EUR][1000 genomes]
rs7102197	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7102423	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7111021	1.00[EUR][1000 genomes]
rs7113420	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7119632	1.00[EUR][1000 genomes]
rs7119975	1.00[EUR][1000 genomes]
rs7122979	1.00[EUR][1000 genomes]
rs7123114	1.00[EUR][1000 genomes]
rs7123218	1.00[EUR][1000 genomes]
rs7123300	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7127143	1.00[EUR][1000 genomes]
rs7127412	1.00[EUR][1000 genomes]
rs7342152	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7937210	0.93[AMR][1000 genomes];1.00[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	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv825993	chr11:73029209-73091929	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv897911	chr11:73044351-73108276	Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73054600-73081800	Strong transcription	Fetal Intestine Small	intestine
2	chr11:73059200-73087400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:73059800-73083000	Weak transcription	Fetal Heart	heart
4	chr11:73062600-73082200	Strong transcription	Fetal Stomach	stomach
5	chr11:73062600-73087400	Weak transcription	Liver	Liver
6	chr11:73063400-73080600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:73063400-73081200	Strong transcription	Fetal Intestine Large	intestine
8	chr11:73063600-73081000	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr11:73063600-73081400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:73063800-73081000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:73063800-73081000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:73063800-73081400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:73066600-73081400	Strong transcription	Placenta Amnion	Placenta Amnion
14	chr11:73068800-73081000	Strong transcription	Fetal Brain Female	brain
15	chr11:73069800-73081000	Strong transcription	Brain Germinal Matrix	brain
16	chr11:73070800-73080400	Strong transcription	Aorta	Aorta
17	chr11:73070800-73081000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:73070800-73081600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:73071400-73080800	Strong transcription	Osteobl	bone
20	chr11:73071400-73081200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:73071600-73081000	Strong transcription	NHLF	lung
22	chr11:73071800-73081000	Strong transcription	Stomach Smooth Muscle	stomach
23	chr11:73072400-73087000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr11:73073200-73087000	Weak transcription	HMEC	breast
25	chr11:73073800-73080400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr11:73073800-73087000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr11:73074000-73086600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr11:73074200-73086600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr11:73075000-73080400	Enhancers	Primary B cells from cord blood	blood
30	chr11:73075200-73080400	Weak transcription	HepG2	liver
31	chr11:73075200-73086800	Weak transcription	Brain Substantia Nigra	brain
32	chr11:73075400-73080400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr11:73075600-73080800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:73076200-73080400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr11:73076200-73080400	Strong transcription	NHDF-Ad	bronchial
36	chr11:73076600-73086400	Weak transcription	Hela-S3	cervix
37	chr11:73077000-73083200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr11:73077200-73085000	Weak transcription	Brain Angular Gyrus	brain
39	chr11:73077200-73085000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr11:73077200-73086600	Weak transcription	A549	lung
41	chr11:73077200-73086800	Weak transcription	Pancreas	Pancrea
42	chr11:73077200-73087000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr11:73077200-73087000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:73077200-73087000	Weak transcription	Esophagus	oesophagus
45	chr11:73077200-73087000	Weak transcription	Fetal Kidney	kidney
46	chr11:73077400-73085400	Weak transcription	Brain Hippocampus Middle	brain
47	chr11:73077600-73080400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:73077600-73086600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr11:73077600-73086800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:73077600-73086800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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