Variant report

Variant	rs570100072
Chromosome Location	chr18:9616094-9616095
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr18:9614927-9616339	U87	brain:	n/a	n/a
2	MAFF	chr18:9616032-9616395	K562	blood:	n/a	chr18:9616237-9616255
3	MAFK	chr18:9616000-9616370	K562	blood:	n/a	chr18:9616238-9616253
4	BCL3	chr18:9616006-9616377	GM12878	blood:	n/a	chr18:9616049-9616058
5	MAFF	chr18:9616051-9616335	HepG2	liver:	n/a	chr18:9616237-9616255
6	MAFK	chr18:9616034-9616372	HepG2	liver:	n/a	chr18:9616238-9616253
7	ARID3A	chr18:9616059-9616297	K562	blood:	n/a	n/a
8	ZNF384	chr18:9616047-9616415	K562	blood:	n/a	n/a
9	MAFK	chr18:9616037-9616380	HepG2	liver:	n/a	chr18:9616238-9616253
10	POLR2A	chr18:9612160-9616803	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr18:9615991-9616307	HUVEC	blood vessel:	n/a	n/a
12	JUND	chr18:9616053-9616482	K562	blood:	n/a	n/a
13	FOS	chr18:9616041-9616404	MCF10A-Er-Src	breast:	n/a	n/a
14	IRF1	chr18:9615696-9616258	K562	blood:	n/a	chr18:9616048-9616058 chr18:9616050-9616059
15	FOS	chr18:9616011-9616405	MCF10A-Er-Src	breast:	n/a	n/a
16	TAL1	chr18:9615994-9616360	K562	blood:	n/a	n/a
17	POLR2A	chr18:9616086-9616218	K562	blood:	n/a	n/a
18	STAT5A	chr18:9615974-9616377	K562	blood:	n/a	chr18:9616055-9616063
19	JUN	chr18:9616039-9616352	K562	blood:	n/a	n/a
20	TEAD4	chr18:9615916-9616412	K562	blood:	n/a	n/a
21	POLR2A	chr18:9615985-9616355	K562	blood:	n/a	n/a
22	POLR2A	chr18:9614815-9616269	PBDE	blood:	n/a	n/a
23	GATA2	chr18:9616015-9616375	K562	blood:	n/a	n/a
24	MAFK	chr18:9616060-9616162	H1-hESC	embryonic stem cell:	n/a	n/a
25	GATA1	chr18:9615396-9617194	PBDE	blood:	n/a	n/a
26	EP300	chr18:9615778-9616326	K562	blood:	n/a	chr18:9616049-9616063
27	STAT3	chr18:9616019-9616178	MCF10A-Er-Src	breast:	n/a	chr18:9616055-9616063
28	TEAD4	chr18:9615968-9616931	K562	blood:	n/a	n/a
29	POLR2A	chr18:9612107-9616277	MCF10A-Er-Src	breast:	n/a	n/a
30	MAFK	chr18:9616067-9616205	Hela-S3	cervix:	n/a	n/a
31	MAFK	chr18:9615973-9616382	IMR90	lung:	n/a	chr18:9616238-9616253
32	STAT3	chr18:9616037-9616178	MCF10A-Er-Src	breast:	n/a	chr18:9616055-9616063

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9594858..9597558-chr18:9614248..9616397,2	MCF-7	breast:
2	chr18:9614482..9616420-chr18:9617986..9621274,5	K562	blood:
3	chr18:9613570..9616156-chr18:9878427..9881071,2	K562	blood:
4	chr18:9614624..9617257-chr18:9707449..9709089,2	K562	blood:
5	chr18:9614449..9616140-chr18:9677968..9679576,2	K562	blood:
6	chr18:9615287..9617165-chr18:9631128..9633561,2	K562	blood:
7	chr18:9613045..9616469-chr18:9913547..9915707,4	K562	blood:
8	chr18:9615576..9617257-chr18:9706860..9708949,2	K562	blood:
9	chr18:9596087..9600746-chr18:9613522..9617540,6	MCF-7	breast:
10	chr17:57970172..57971882-chr18:9614484..9616129,2	MCF-7	breast:
11	chr18:9612544..9617098-chr18:9708301..9712595,6	MCF-7	breast:
12	chr18:9474922..9476536-chr18:9613527..9616238,2	MCF-7	breast:
13	chr18:9569658..9574401-chr18:9612462..9616455,5	K562	blood:
14	chr18:9613016..9616228-chr18:9911513..9913644,4	K562	blood:
15	chr18:9615456..9617526-chr18:9895448..9898198,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RALBP1-2	chr18:9615186-9616194	NONHSAT057231

No data

Variant related genes	Relation type
PPP4R1	TF binding region
ENSG00000101558	Chromatin interaction
ENSG00000168461	Chromatin interaction
ENSG00000264644	Chromatin interaction
ENSG00000108443	Chromatin interaction
ENSG00000017797	Chromatin interaction
ENSG00000272799	Chromatin interaction
ENSG00000212572	Chromatin interaction
ENSG00000154845	Chromatin interaction
ENSG00000108423	Chromatin interaction
ENSG00000265564	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693417	chr18:9512985-9693638	Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	esv3497207	chr18:9613177-9616150	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	n/a
5	esv3497209	chr18:9613177-9616150	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	n/a
6	esv1820504	chr18:9614250-9621841	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	esv1801741	chr18:9614451-9621841	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv521175	chr18:9615851-9623052	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9615000-9616200	Flanking Active TSS	K562	blood
2	chr18:9615200-9616200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr18:9615200-9616200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr18:9615400-9618200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr18:9615600-9616600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr18:9615600-9616600	Enhancers	Left Ventricle	heart
7	chr18:9615600-9617000	Enhancers	Brain Substantia Nigra	brain
8	chr18:9615600-9617000	Enhancers	Placenta Amnion	Placenta Amnion
9	chr18:9615600-9617200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr18:9615600-9617400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr18:9615600-9617600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr18:9615600-9617600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr18:9615600-9619200	Weak transcription	GM12878-XiMat	blood
14	chr18:9615800-9616200	Enhancers	H9 Cell Line	embryonic stem cell
15	chr18:9615800-9616200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr18:9615800-9616200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr18:9615800-9616200	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr18:9615800-9616200	Enhancers	Colon Smooth Muscle	Colon
19	chr18:9615800-9616200	Enhancers	HSMMtube	muscle
20	chr18:9615800-9616400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr18:9615800-9616400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr18:9615800-9616600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr18:9615800-9616800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr18:9615800-9616800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr18:9615800-9616800	Enhancers	Fetal Brain Female	brain
26	chr18:9615800-9616800	Weak transcription	NH-A	brain
27	chr18:9615800-9617000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr18:9615800-9617000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr18:9615800-9617000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr18:9615800-9617000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr18:9615800-9617000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr18:9615800-9617000	Enhancers	A549	lung
33	chr18:9615800-9617000	Enhancers	HepG2	liver
34	chr18:9615800-9617400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr18:9615800-9617400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr18:9615800-9617400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr18:9615800-9617400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr18:9615800-9617400	Enhancers	Dnd41	blood
39	chr18:9615800-9617400	Enhancers	Hela-S3	cervix
40	chr18:9615800-9617400	Enhancers	HSMM	muscle
41	chr18:9615800-9617400	Enhancers	NHDF-Ad	bronchial
42	chr18:9615800-9617400	Enhancers	NHLF	lung
43	chr18:9615800-9617400	Enhancers	Osteobl	bone
44	chr18:9615800-9617600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr18:9615800-9617600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr18:9615800-9617600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr18:9615800-9617600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr18:9615800-9617600	Enhancers	NHEK	skin
49	chr18:9615800-9619200	Weak transcription	Brain Angular Gyrus	brain
50	chr18:9615800-9619200	Weak transcription	Brain Anterior Caudate	brain

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