Variant report

Variant	rs537444629
Chromosome Location	chr17:46014283-46014284
allele	A/T
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	MAX	chr17:46014039-46014583	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:46005701..46007603-chr17:46012685..46014665,2	K562	blood:
2	chr17:45972283..45976323-chr17:46012255..46015718,3	MCF-7	breast:
3	chr17:45978248..45980745-chr17:46013180..46016044,2	K562	blood:

Variant related genes	Relation type
PNPO	TF binding region
ENSG00000266601	TF binding region
ENSG00000264920	Chromatin interaction
ENSG00000167182	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	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
3	nsv908575	chr17:45957591-46049533	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
4	nsv1062503	chr17:45977445-46021384	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv2072	chr17:45998637-46019626	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	esv3332738	chr17:46013781-46014322	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45983200-46018200	Weak transcription	Fetal Brain Male	brain
2	chr17:45993800-46017400	Weak transcription	Psoas Muscle	Psoas
3	chr17:45999200-46018200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr17:46003200-46018400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr17:46004600-46018200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr17:46005400-46017400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr17:46005400-46018200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr17:46006200-46017800	Weak transcription	Small Intestine	intestine
9	chr17:46006800-46015600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr17:46007000-46015600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr17:46007000-46018200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr17:46007000-46018400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr17:46007200-46018200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr17:46007600-46017400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr17:46007600-46018200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr17:46007600-46018600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr17:46007800-46018200	Weak transcription	Colonic Mucosa	Colon
18	chr17:46007800-46018400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr17:46007800-46018800	Weak transcription	Gastric	stomach
20	chr17:46008000-46015400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr17:46008000-46015400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr17:46008000-46015400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr17:46008000-46015600	Weak transcription	Adipose Nuclei	Adipose
24	chr17:46008000-46015800	Weak transcription	Brain Hippocampus Middle	brain
25	chr17:46008000-46018200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr17:46008000-46018200	Weak transcription	Fetal Intestine Large	intestine
27	chr17:46008000-46018200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr17:46008000-46018400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr17:46008000-46018400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr17:46008200-46015400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr17:46008200-46015600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr17:46008200-46015800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr17:46008200-46017400	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr17:46008200-46017400	Weak transcription	Pancreas	Pancrea
35	chr17:46008200-46017600	Weak transcription	Liver	Liver
36	chr17:46008200-46017600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr17:46008200-46017600	Weak transcription	Ovary	ovary
38	chr17:46008200-46017600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr17:46008200-46018200	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr17:46008200-46018200	Weak transcription	Primary B cells from cord blood	blood
41	chr17:46008200-46018200	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr17:46008200-46018200	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr17:46008200-46018200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr17:46008200-46018200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr17:46008200-46018200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr17:46008200-46018400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr17:46008200-46018400	Weak transcription	Aorta	Aorta
48	chr17:46008400-46015000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr17:46008400-46015400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr17:46008400-46017400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links