Variant report

Variant	rs7211075
Chromosome Location	chr17:45308089-45308090
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45307805..45308742-chr17:45392816..45393535,2	MCF-7	breast:
2	chr17:45305936..45308679-chr17:45318489..45320742,2	K562	blood:
3	chr17:45305837..45309008-chr17:45313405..45315818,4	K562	blood:
4	chr17:45307528..45309683-chr17:45342784..45344582,2	K562	blood:
5	chr17:45306864..45308654-chr17:45310758..45312304,2	MCF-7	breast:
6	chr17:45264991..45266641-chr17:45306320..45308708,2	K562	blood:
7	chr17:45300506..45304139-chr17:45304220..45308207,3	MCF-7	breast:
8	chr17:45306930..45308643-chr17:45381821..45384503,2	K562	blood:
9	chr17:45307818..45310249-chr17:45315269..45317004,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000004897	Chromatin interaction
ENSG00000263293	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1634270	1.00[EUR][1000 genomes]
rs2018281	1.00[EUR][1000 genomes]
rs221600	1.00[EUR][1000 genomes]
rs3744452	1.00[EUR][1000 genomes]
rs60521210	1.00[EUR][1000 genomes]
rs7221149	1.00[EUR][1000 genomes]
rs73329161	1.00[EUR][1000 genomes]
rs8064340	1.00[EUR][1000 genomes]
rs8071980	1.00[EUR][1000 genomes]
rs8080767	1.00[EUR][1000 genomes]
rs8081202	1.00[EUR][1000 genomes]
rs858674	1.00[EUR][1000 genomes]
rs908360	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	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45303400-45309400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr17:45303800-45309800	Weak transcription	Small Intestine	intestine
3	chr17:45304200-45316600	Weak transcription	Left Ventricle	heart
4	chr17:45306000-45308200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr17:45306800-45308200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr17:45306800-45308200	Enhancers	Primary B cells from peripheral blood	blood
7	chr17:45306800-45308200	Enhancers	Fetal Muscle Leg	muscle
8	chr17:45306800-45308200	Enhancers	Fetal Stomach	stomach
9	chr17:45307000-45308200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr17:45307000-45308200	Enhancers	Fetal Intestine Large	intestine
11	chr17:45307000-45308200	Enhancers	Fetal Muscle Trunk	muscle
12	chr17:45307000-45308600	Enhancers	Placenta	Placenta
13	chr17:45307200-45308400	Enhancers	Primary hematopoietic stem cells	blood
14	chr17:45307200-45310600	Weak transcription	Lung	lung
15	chr17:45307400-45308600	Flanking Bivalent TSS/Enh	HepG2	liver
16	chr17:45307400-45309000	Flanking Active TSS	GM12878-XiMat	blood
17	chr17:45307600-45308200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr17:45307600-45308200	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr17:45307600-45308200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr17:45307600-45308200	Active TSS	Colonic Mucosa	Colon
21	chr17:45307600-45309000	Flanking Active TSS	Liver	Liver
22	chr17:45307800-45308200	Enhancers	Primary B cells from cord blood	blood
23	chr17:45307800-45308200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr17:45307800-45308200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr17:45307800-45308200	Enhancers	Adipose Nuclei	Adipose
26	chr17:45307800-45308200	Enhancers	Duodenum Mucosa	Duodenum
27	chr17:45307800-45308200	Enhancers	Fetal Intestine Small	intestine
28	chr17:45307800-45308200	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr17:45307800-45308200	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr17:45307800-45308200	Enhancers	Stomach Smooth Muscle	stomach
31	chr17:45307800-45308200	Enhancers	Dnd41	blood
32	chr17:45307800-45308200	Enhancers	HSMM	muscle
33	chr17:45307800-45308200	Enhancers	HUVEC	blood vessel
34	chr17:45307800-45308200	Enhancers	NH-A	brain
35	chr17:45307800-45308200	Enhancers	Osteobl	bone
36	chr17:45307800-45308400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr17:45307800-45308400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr17:45307800-45308400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr17:45307800-45308400	Active TSS	Rectal Mucosa Donor 31	rectum
40	chr17:45307800-45308400	Active TSS	Rectal Smooth Muscle	rectum
41	chr17:45307800-45308600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr17:45307800-45308600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr17:45307800-45308600	Enhancers	NHDF-Ad	bronchial
44	chr17:45307800-45309000	Enhancers	Hela-S3	cervix
45	chr17:45307800-45309800	Weak transcription	Ovary	ovary
46	chr17:45307800-45310400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr17:45307800-45310800	Enhancers	K562	blood
48	chr17:45307800-45314000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr17:45307800-45316400	Weak transcription	Fetal Heart	heart
50	chr17:45307800-45317200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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