Variant report

Variant	rs527333468
Chromosome Location	chr1:171749593-171749594
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr1:171749271-171751404	K562	blood:	n/a	chr1:171750714-171750723 chr1:171750617-171750631
2	CBX3	chr1:171749560-171751124	K562	blood:	n/a	n/a
3	MXI1	chr1:171749215-171752807	SK-N-SH	brain:	n/a	n/a
4	RCOR1	chr1:171749524-171751256	K562	blood:	n/a	n/a
5	POLR2A	chr1:171749551-171752609	K562	blood:	n/a	n/a
6	POLR2A	chr1:171749430-171751571	SK-N-MC	brain:	n/a	n/a
7	MYC	chr1:171749586-171751403	K562	blood:	n/a	n/a
8	POLR2A	chr1:171749545-171751474	GM12891	blood:	n/a	n/a
9	RFX5	chr1:171749259-171751703	SK-N-SH	brain:	n/a	chr1:171750715-171750724
10	HCFC1	chr1:171749427-171751609	Hela-S3	cervix:	n/a	n/a
11	TBP	chr1:171749464-171751326	K562	blood:	n/a	n/a
12	RFX5	chr1:171749552-171749596	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:171738907..171740950-chr1:171747822..171750244,2	MCF-7	breast:
2	chr1:171710341..171715416-chr1:171748571..171752440,7	MCF-7	breast:
3	chr1:171711288..171712051-chr1:171749296..171750274,2	Hela-S3	cervix:
4	chr1:171710046..171714350-chr1:171748592..171750523,6	K562	blood:
5	chr1:171719352..171723049-chr1:171749265..171752646,3	MCF-7	breast:
6	chr1:171735538..171739658-chr1:171748409..171750930,4	MCF-7	breast:
7	chr1:171729687..171733295-chr1:171747531..171751881,5	K562	blood:
8	chr1:171709343..171715185-chr1:171748592..171756289,15	K562	blood:
9	chr1:171748445..171750403-chr1:173987079..173989780,2	MCF-7	breast:
10	chr1:171728708..171731158-chr1:171748251..171750478,2	MCF-7	breast:
11	chr1:171708496..171713095-chr1:171747641..171752422,13	MCF-7	breast:
12	chr1:171734176..171737844-chr1:171748206..171752284,5	K562	blood:
13	chr1:171724145..171725831-chr1:171749285..171750823,2	K562	blood:

No data

Variant related genes	Relation type
METTL13	TF binding region
ENSG00000236741	Chromatin interaction
ENSG00000117533	Chromatin interaction
ENSG00000271459	Chromatin interaction
ENSG00000253060	Chromatin interaction
ENSG00000232261	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv872545	chr1:171735198-171805448	Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription 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	21 gene(s)	inside rSNPs	diseases
4	esv1802105	chr1:171749558-171751236	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171740000-171749800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:171747600-171749600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:171749000-171749600	Enhancers	Brain Germinal Matrix	brain
4	chr1:171749000-171749800	Enhancers	Primary T cells fromperipheralblood	blood
5	chr1:171749000-171749800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr1:171749000-171750200	Flanking Active TSS	Dnd41	blood
7	chr1:171749200-171749600	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr1:171749200-171749600	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr1:171749200-171749600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:171749200-171749800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr1:171749200-171749800	Enhancers	Hela-S3	cervix
12	chr1:171749400-171749600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr1:171749400-171749600	Enhancers	Primary T cells from cord blood	blood
14	chr1:171749400-171749600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr1:171749400-171749600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr1:171749400-171749600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:171749400-171749600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:171749400-171749600	Enhancers	Adipose Nuclei	Adipose
19	chr1:171749400-171749600	Enhancers	Brain Hippocampus Middle	brain
20	chr1:171749400-171749600	Enhancers	Fetal Thymus	thymus
21	chr1:171749400-171749600	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr1:171749400-171749600	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr1:171749400-171749800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:171749400-171749800	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr1:171749400-171749800	Enhancers	Primary B cells from cord blood	blood
26	chr1:171749400-171749800	Enhancers	Primary B cells from peripheral blood	blood
27	chr1:171749400-171749800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:171749400-171749800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr1:171749400-171749800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:171749400-171749800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr1:171749400-171749800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:171749400-171749800	Enhancers	HepG2	liver
33	chr1:171749400-171749800	Enhancers	NHDF-Ad	bronchial
34	chr1:171749400-171749800	Enhancers	NHEK	skin
35	chr1:171749400-171749800	Enhancers	NHLF	lung
36	chr1:171749400-171750000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr1:171749400-171750000	Flanking Active TSS	Colon Smooth Muscle	Colon
38	chr1:171749400-171750200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr1:171749400-171750200	Flanking Active TSS	K562	blood

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