Variant report

Variant	rs61746389
Chromosome Location	chr18:9619360-9619361
allele	C/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:1)
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	RAD21	chr18:9619346-9619950	IMR90	lung:	n/a	n/a
2	MAFK	chr18:9619219-9619980	IMR90	lung:	n/a	n/a
3	FOS	chr18:9619282-9619989	HUVEC	blood vessel:	n/a	n/a
4	GATA2	chr18:9619202-9619985	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr18:9619319-9619945	HUVEC	blood vessel:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9614482..9616420-chr18:9617986..9621274,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RALBP1-2	chr18:9619193-9619361	ENSG00000263627.1
2	lnc-RALBP1-2	chr18:9619193-9619364	NONHSAT057230

No data

Variant related genes	Relation type
RNU6-903P	TF binding region
PPP4R1	TF binding region
ENSG00000263627	Chromatin interaction
ENSG00000154845	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs61749090	1.00[EUR][1000 genomes]
rs61749091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62080294	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62080298	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62080299	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62080302	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62080303	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62080304	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62080305	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62087424	0.82[EUR][1000 genomes]
rs62087455	0.82[EUR][1000 genomes]
rs62087457	0.82[EUR][1000 genomes]
rs62087458	0.82[EUR][1000 genomes]
rs62088862	0.82[EUR][1000 genomes]
rs62088863	0.82[EUR][1000 genomes]
rs62088865	0.82[EUR][1000 genomes]
rs62088866	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62088867	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62088869	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62088874	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62088882	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62088909	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62088910	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62088911	0.97[EUR][1000 genomes]
rs62088912	0.96[EUR][1000 genomes]
rs62088913	0.96[EUR][1000 genomes]
rs62088914	0.96[EUR][1000 genomes]
rs62088915	1.00[EUR][1000 genomes]
rs62088917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62088918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7236182	0.96[EUR][1000 genomes]

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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9615800-9619400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr18:9615800-9619400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr18:9615800-9619600	Weak transcription	Fetal Lung	lung
4	chr18:9615800-9619800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr18:9615800-9625200	Weak transcription	Placenta	Placenta
6	chr18:9615800-9625400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr18:9615800-9627400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr18:9616000-9619800	Weak transcription	Brain Hippocampus Middle	brain
9	chr18:9616200-9619400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr18:9616200-9619400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr18:9616200-9619600	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr18:9616800-9619400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr18:9617200-9619400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr18:9617400-9619400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr18:9617400-9619400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr18:9617400-9619600	Weak transcription	HSMM	muscle
17	chr18:9617400-9619800	Weak transcription	K562	blood
18	chr18:9617400-9625400	Weak transcription	HMEC	breast
19	chr18:9617600-9619400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr18:9617600-9619400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr18:9617600-9619400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr18:9617600-9619600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr18:9617600-9630600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr18:9618800-9619800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr18:9618800-9620200	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr18:9619000-9619600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr18:9619000-9620000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr18:9619200-9619400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr18:9619200-9619400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr18:9619200-9619400	Enhancers	Primary hematopoietic stem cells	blood
31	chr18:9619200-9619400	Enhancers	Brain Cingulate Gyrus	brain
32	chr18:9619200-9619400	Enhancers	Esophagus	oesophagus
33	chr18:9619200-9619400	Enhancers	HepG2	liver
34	chr18:9619200-9619600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr18:9619200-9619600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr18:9619200-9619600	Enhancers	Brain Angular Gyrus	brain
37	chr18:9619200-9619600	Flanking Active TSS	NH-A	brain
38	chr18:9619200-9619600	Flanking Active TSS	Osteobl	bone
39	chr18:9619200-9619800	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr18:9619200-9619800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr18:9619200-9619800	Enhancers	Stomach Mucosa	stomach
42	chr18:9619200-9619800	Flanking Active TSS	A549	lung
43	chr18:9619200-9620000	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr18:9619200-9620000	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr18:9619200-9620000	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr18:9619200-9620000	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr18:9619200-9620000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr18:9619200-9620000	Enhancers	Brain Anterior Caudate	brain
49	chr18:9619200-9620000	Enhancers	Duodenum Mucosa	Duodenum
50	chr18:9619200-9620000	Enhancers	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links