Variant report

Variant	rs559333952
Chromosome Location	chr17:45914979-45914980
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45914563..45916349-chr17:45975385..45977365,2	K562	blood:
2	chr17:45906958..45911258-chr17:45911981..45915187,7	K562	blood:
3	chr17:45912810..45915446-chr17:46033919..46035588,2	MCF-7	breast:
4	chr17:45913355..45915258-chr17:46023188..46024745,2	MCF-7	breast:
5	chr17:45913357..45915949-chr17:45973586..45976163,2	K562	blood:
6	chr17:45914566..45916883-chr17:46031350..46033702,2	MCF-7	breast:
7	chr17:45914946..45918155-chr17:45971112..45974378,4	K562	blood:
8	chr17:45897077..45901616-chr17:45914627..45919028,8	MCF-7	breast:
9	chr17:45912193..45915082-chr17:46064625..46066503,2	MCF-7	breast:
10	chr17:45914114..45922201-chr17:45959661..45964608,11	MCF-7	breast:
11	chr17:45913484..45922782-chr17:45969196..45975741,24	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000159111	Chromatin interaction
ENSG00000266821	Chromatin interaction
ENSG00000167183	Chromatin interaction
ENSG00000006025	Chromatin interaction
ENSG00000264920	Chromatin interaction
ENSG00000167182	Chromatin interaction
ENSG00000141294	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv908573	chr17:45858487-45956073	Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv908574	chr17:45876022-45930584	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv517880	chr17:45887951-45933341	Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv518892	chr17:45887951-46029432	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	esv3393047	chr17:45914929-45915302	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45909200-45916800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:45909400-45915800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr17:45909400-45917600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr17:45909600-45915200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr17:45909600-45915400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr17:45909600-45917000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr17:45909600-45917000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr17:45909600-45917200	Weak transcription	Stomach Mucosa	stomach
9	chr17:45909600-45917400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr17:45909600-45917400	Weak transcription	Fetal Kidney	kidney
11	chr17:45909600-45917600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr17:45909600-45917600	Weak transcription	Psoas Muscle	Psoas
13	chr17:45909600-45917600	Weak transcription	Right Atrium	heart
14	chr17:45909800-45915800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:45909800-45916600	Weak transcription	Fetal Heart	heart
16	chr17:45909800-45917400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr17:45909800-45917400	Weak transcription	Brain Angular Gyrus	brain
18	chr17:45909800-45917400	Weak transcription	Brain Substantia Nigra	brain
19	chr17:45909800-45917400	Weak transcription	Hela-S3	cervix
20	chr17:45910000-45915600	Weak transcription	Dnd41	blood
21	chr17:45910000-45917400	Weak transcription	Primary B cells from cord blood	blood
22	chr17:45910000-45917400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr17:45910000-45917400	Weak transcription	GM12878-XiMat	blood
24	chr17:45912400-45917600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr17:45912600-45916200	Strong transcription	Gastric	stomach
26	chr17:45912600-45916800	Genic enhancers	Placenta	Placenta
27	chr17:45912600-45917000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr17:45912600-45917000	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr17:45912600-45917600	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr17:45912800-45915000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr17:45912800-45915200	Strong transcription	Colonic Mucosa	Colon
32	chr17:45912800-45915400	Strong transcription	Stomach Smooth Muscle	stomach
33	chr17:45912800-45915600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr17:45912800-45916400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr17:45912800-45916400	Strong transcription	Brain Anterior Caudate	brain
36	chr17:45912800-45916600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr17:45912800-45916600	Strong transcription	Brain Germinal Matrix	brain
38	chr17:45913000-45916600	Genic enhancers	Adipose Nuclei	Adipose
39	chr17:45913000-45916600	Strong transcription	Fetal Thymus	thymus
40	chr17:45913000-45916800	Strong transcription	Primary T cells from cord blood	blood
41	chr17:45913000-45916800	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr17:45913000-45917000	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr17:45913000-45917200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr17:45913000-45917400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr17:45913000-45917400	Weak transcription	K562	blood
46	chr17:45913000-45917600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr17:45913200-45915400	Strong transcription	Fetal Stomach	stomach
48	chr17:45913200-45916000	Strong transcription	Colon Smooth Muscle	Colon
49	chr17:45913200-45916000	Strong transcription	Esophagus	oesophagus
50	chr17:45913200-45916200	Strong transcription	H1 Cell Line	embryonic stem cell

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