Variant report

Variant	rs56230646
Chromosome Location	chr11:66651299-66651300
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66623800..66625594-chr11:66650788..66652372,2	K562	blood:
2	chr11:66620817..66623976-chr11:66646170..66651314,5	MCF-7	breast:
3	chr11:66640579..66644175-chr11:66648917..66652443,5	MCF-7	breast:
4	chr11:66453511..66455153-chr11:66650234..66652449,2	MCF-7	breast:
5	chr11:66649204..66651598-chr11:66653844..66656638,2	MCF-7	breast:
6	chr11:66600847..66602669-chr11:66650829..66652399,2	MCF-7	breast:
7	chr11:66373116..66374027-chr11:66650670..66651327,5	MCF-7	breast:
8	chr11:66650776..66653492-chr11:66654668..66657243,4	K562	blood:
9	chr11:66650729..66651559-chr11:66724173..66724729,2	MCF-7	breast:
10	chr11:66609335..66612461-chr11:66650852..66654865,3	MCF-7	breast:
11	chr11:66648193..66651672-chr17:57913851..57917010,3	MCF-7	breast:
12	chr11:66622039..66625017-chr11:66649719..66652504,2	K562	blood:
13	chr11:66622201..66627158-chr11:66645726..66651981,9	MCF-7	breast:
14	chr11:66651148..66654052-chr11:66754978..66757094,2	K562	blood:
15	chr11:66462020..66462866-chr11:66650520..66651300,4	MCF-7	breast:
16	chr11:66650937..66653483-chr11:66658132..66659731,2	K562	blood:
17	chr11:66373172..66373871-chr11:66650649..66651352,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000173653	Chromatin interaction
ENSG00000173898	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000173621	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12807979	1.00[ASN][1000 genomes]
rs34775878	1.00[ASN][1000 genomes]
rs35287213	1.00[ASN][1000 genomes]
rs36017943	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55981088	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61890450	1.00[ASN][1000 genomes]
rs61891302	1.00[ASN][1000 genomes]
rs72926941	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	nsv897794	chr11:66579572-66744119	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv555226	chr11:66579572-66845362	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv428574	chr11:66619002-66804133	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv832194	chr11:66634462-66805980	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66639000-66657200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr11:66639200-66657400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:66639400-66659800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:66643200-66651400	Enhancers	Fetal Muscle Leg	muscle
5	chr11:66643200-66653000	Enhancers	Liver	Liver
6	chr11:66645200-66652000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:66645600-66652400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:66645800-66651400	Enhancers	HSMMtube	muscle
9	chr11:66646000-66660800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr11:66646200-66651400	Enhancers	Fetal Brain Male	brain
11	chr11:66646600-66651400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:66646800-66651400	Enhancers	Adipose Nuclei	Adipose
13	chr11:66647600-66653400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr11:66648600-66651400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:66648600-66652400	Weak transcription	Placenta	Placenta
16	chr11:66648600-66653400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:66648600-66653800	Weak transcription	Left Ventricle	heart
18	chr11:66648600-66657600	Weak transcription	GM12878-XiMat	blood
19	chr11:66648800-66653200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr11:66649000-66654200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr11:66649200-66655200	Weak transcription	Right Atrium	heart
22	chr11:66649400-66651400	Enhancers	NH-A	brain
23	chr11:66649400-66652600	Enhancers	Fetal Muscle Trunk	muscle
24	chr11:66649600-66651400	Weak transcription	Fetal Kidney	kidney
25	chr11:66650000-66651400	Flanking Active TSS	Hela-S3	cervix
26	chr11:66650200-66651400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:66650200-66651400	Flanking Active TSS	A549	lung
28	chr11:66650400-66651600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:66650600-66651400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:66650800-66651400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:66650800-66651400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:66650800-66651400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr11:66650800-66651400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:66650800-66651400	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr11:66650800-66651400	Enhancers	NHDF-Ad	bronchial
36	chr11:66650800-66653400	Enhancers	HepG2	liver
37	chr11:66650800-66653800	Weak transcription	Psoas Muscle	Psoas
38	chr11:66650800-66654000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr11:66651000-66651400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:66651000-66651400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:66651000-66651400	Enhancers	Fetal Brain Female	brain
42	chr11:66651000-66651400	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr11:66651000-66651400	Enhancers	Stomach Smooth Muscle	stomach
44	chr11:66651000-66652000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:66651000-66652200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr11:66651000-66653000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr11:66651000-66653000	Weak transcription	Brain Substantia Nigra	brain
48	chr11:66651000-66653200	Weak transcription	Fetal Lung	lung
49	chr11:66651000-66653400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr11:66651000-66657200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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