Variant report

Variant	rs397691340
Chromosome Location	chr18:9616263-9616264
allele	-/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	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	FOS	chr18:9616168-9616418	MCF10A-Er-Src	breast:	n/a	n/a
5	BCL3	chr18:9616006-9616377	GM12878	blood:	n/a	chr18:9616049-9616058
6	MAFF	chr18:9616051-9616335	HepG2	liver:	n/a	chr18:9616237-9616255
7	RCOR1	chr18:9616119-9616411	K562	blood:	n/a	n/a
8	MAFK	chr18:9616034-9616372	HepG2	liver:	n/a	chr18:9616238-9616253
9	ARID3A	chr18:9616059-9616297	K562	blood:	n/a	n/a
10	ZNF384	chr18:9616047-9616415	K562	blood:	n/a	n/a
11	MAFK	chr18:9616037-9616380	HepG2	liver:	n/a	chr18:9616238-9616253
12	POLR2A	chr18:9612160-9616803	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr18:9615991-9616307	HUVEC	blood vessel:	n/a	n/a
14	JUND	chr18:9616053-9616482	K562	blood:	n/a	n/a
15	FOS	chr18:9616041-9616404	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr18:9616011-9616405	MCF10A-Er-Src	breast:	n/a	n/a
17	TAL1	chr18:9615994-9616360	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	CEBPB	chr18:9616225-9616335	K562	blood:	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	TEAD4	chr18:9615968-9616931	K562	blood:	n/a	n/a
28	POLR2A	chr18:9612107-9616277	MCF10A-Er-Src	breast:	n/a	n/a
29	MAFK	chr18:9615973-9616382	IMR90	lung:	n/a	chr18:9616238-9616253

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	chr18:9614624..9617257-chr18:9707449..9709089,2	K562	blood:
4	chr18:9615287..9617165-chr18:9631128..9633561,2	K562	blood:
5	chr18:9613045..9616469-chr18:9913547..9915707,4	K562	blood:
6	chr18:9615576..9617257-chr18:9706860..9708949,2	K562	blood:
7	chr18:9596087..9600746-chr18:9613522..9617540,6	MCF-7	breast:
8	chr18:9612544..9617098-chr18:9708301..9712595,6	MCF-7	breast:
9	chr18:9569658..9574401-chr18:9612462..9616455,5	K562	blood:
10	chr18:9615456..9617526-chr18:9895448..9898198,2	K562	blood:

Variant related genes	Relation type
PPP4R1	TF binding region
ENSG00000168461	Chromatin interaction
ENSG00000101558	Chromatin interaction
ENSG00000212572	Chromatin interaction
ENSG00000154845	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	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	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
5	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
6	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:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9615400-9618200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:9615600-9616600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr18:9615600-9616600	Enhancers	Left Ventricle	heart
4	chr18:9615600-9617000	Enhancers	Brain Substantia Nigra	brain
5	chr18:9615600-9617000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr18:9615600-9617200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr18:9615600-9617400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr18:9615600-9617600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr18:9615600-9617600	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr18:9615600-9619200	Weak transcription	GM12878-XiMat	blood
11	chr18:9615800-9616400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr18:9615800-9616400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr18:9615800-9616600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr18:9615800-9616800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr18:9615800-9616800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr18:9615800-9616800	Enhancers	Fetal Brain Female	brain
17	chr18:9615800-9616800	Weak transcription	NH-A	brain
18	chr18:9615800-9617000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr18:9615800-9617000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr18:9615800-9617000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr18:9615800-9617000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr18:9615800-9617000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr18:9615800-9617000	Enhancers	A549	lung
24	chr18:9615800-9617000	Enhancers	HepG2	liver
25	chr18:9615800-9617400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr18:9615800-9617400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr18:9615800-9617400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr18:9615800-9617400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr18:9615800-9617400	Enhancers	Dnd41	blood
30	chr18:9615800-9617400	Enhancers	Hela-S3	cervix
31	chr18:9615800-9617400	Enhancers	HSMM	muscle
32	chr18:9615800-9617400	Enhancers	NHDF-Ad	bronchial
33	chr18:9615800-9617400	Enhancers	NHLF	lung
34	chr18:9615800-9617400	Enhancers	Osteobl	bone
35	chr18:9615800-9617600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr18:9615800-9617600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr18:9615800-9617600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr18:9615800-9617600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr18:9615800-9617600	Enhancers	NHEK	skin
40	chr18:9615800-9619200	Weak transcription	Brain Angular Gyrus	brain
41	chr18:9615800-9619200	Weak transcription	Brain Anterior Caudate	brain
42	chr18:9615800-9619200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr18:9615800-9619200	Weak transcription	Esophagus	oesophagus
44	chr18:9615800-9619200	Enhancers	HUVEC	blood vessel
45	chr18:9615800-9619400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr18:9615800-9619400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr18:9615800-9619600	Weak transcription	Fetal Lung	lung
48	chr18:9615800-9619800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr18:9615800-9625200	Weak transcription	Placenta	Placenta
50	chr18:9615800-9625400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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