Variant report

Variant	rs574723228
Chromosome Location	chr18:9617171-9617172
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr18:9617165-9617281	NB4	blood:	n/a	n/a
2	POLR2A	chr18:9617120-9617207	K562	blood:	n/a	n/a
3	POLR2A	chr18:9617028-9617330	MCF10A-Er-Src	breast:	n/a	n/a
4	GATA1	chr18:9615396-9617194	PBDE	blood:	n/a	n/a
5	IRF1	chr18:9616786-9617198	K562	blood:	n/a	chr18:9616995-9617005 chr18:9616995-9617009

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9616424..9618415-chr18:9912586..9915951,3	MCF-7	breast:
2	chr18:9614624..9617257-chr18:9707449..9709089,2	K562	blood:
3	chr18:9615576..9617257-chr18:9706860..9708949,2	K562	blood:
4	chr18:9596087..9600746-chr18:9613522..9617540,6	MCF-7	breast:
5	chr18:9615456..9617526-chr18:9895448..9898198,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RALBP1-2	chr18:9617146-9617283	ENSG00000263627.1
2	lnc-RALBP1-2	chr18:9617146-9617283	NONHSAT057230

No data

Variant related genes	Relation type
PPP4R1	TF binding region
ENSG00000154845	Chromatin interaction
ENSG00000168461	Chromatin interaction
ENSG00000101558	Chromatin interaction
ENSG00000272799	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:64 , 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	chr18:9615600-9617200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr18:9615600-9617400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr18:9615600-9617600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr18:9615600-9617600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr18:9615600-9619200	Weak transcription	GM12878-XiMat	blood
7	chr18:9615800-9617400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr18:9615800-9617400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr18:9615800-9617400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr18:9615800-9617400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr18:9615800-9617400	Enhancers	Dnd41	blood
12	chr18:9615800-9617400	Enhancers	Hela-S3	cervix
13	chr18:9615800-9617400	Enhancers	HSMM	muscle
14	chr18:9615800-9617400	Enhancers	NHDF-Ad	bronchial
15	chr18:9615800-9617400	Enhancers	NHLF	lung
16	chr18:9615800-9617400	Enhancers	Osteobl	bone
17	chr18:9615800-9617600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr18:9615800-9617600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr18:9615800-9617600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr18:9615800-9617600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr18:9615800-9617600	Enhancers	NHEK	skin
22	chr18:9615800-9619200	Weak transcription	Brain Angular Gyrus	brain
23	chr18:9615800-9619200	Weak transcription	Brain Anterior Caudate	brain
24	chr18:9615800-9619200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr18:9615800-9619200	Weak transcription	Esophagus	oesophagus
26	chr18:9615800-9619200	Enhancers	HUVEC	blood vessel
27	chr18:9615800-9619400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr18:9615800-9619400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr18:9615800-9619600	Weak transcription	Fetal Lung	lung
30	chr18:9615800-9619800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr18:9615800-9625200	Weak transcription	Placenta	Placenta
32	chr18:9615800-9625400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr18:9615800-9627400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr18:9616000-9617400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr18:9616000-9617400	Enhancers	HMEC	breast
36	chr18:9616000-9617600	Enhancers	Brain Cingulate Gyrus	brain
37	chr18:9616000-9618800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr18:9616000-9619200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr18:9616000-9619200	Weak transcription	Stomach Mucosa	stomach
40	chr18:9616000-9619200	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr18:9616000-9619800	Weak transcription	Brain Hippocampus Middle	brain
42	chr18:9616200-9617200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr18:9616200-9619000	Weak transcription	HSMMtube	muscle
44	chr18:9616200-9619200	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr18:9616200-9619200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr18:9616200-9619200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr18:9616200-9619400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr18:9616200-9619400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr18:9616200-9619600	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr18:9616400-9617600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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