Variant report

Variant	rs7240191
Chromosome Location	chr18:9706756-9706757
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TFAP2C	chr18:9706170-9707190	Hela-S3	cervix:	n/a	chr18:9706762-9706777
2	POLR2A	chr18:9705941-9706981	K562	blood:	n/a	n/a
3	RCOR1	chr18:9706733-9706894	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9611182..9615699-chr18:9705314..9711194,13	MCF-7	breast:
2	chr18:9574062..9575945-chr18:9705155..9707070,2	MCF-7	breast:
3	chr18:9671374..9674373-chr18:9705168..9708061,3	MCF-7	breast:
4	chr18:9704899..9707614-chr18:9938963..9941267,2	MCF-7	breast:
5	chr18:9705049..9708161-chr18:9732147..9734824,4	K562	blood:
6	chr18:9705638..9708079-chr18:9719229..9721012,2	MCF-7	breast:
7	chr18:9705672..9708161-chr18:9732147..9734468,2	K562	blood:
8	chr18:9706539..9708220-chr18:9796995..9799209,2	K562	blood:
9	chr18:9703929..9707573-chr18:9737119..9740388,3	K562	blood:
10	chr18:9613530..9615298-chr18:9705284..9707781,2	K562	blood:

No data

Variant related genes	Relation type
RAB31	TF binding region
ENSG00000168461	Chromatin interaction
ENSG00000154845	Chromatin interaction
ENSG00000263627	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1563329	0.91[AMR][1000 genomes]
rs7226695	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8090845	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8091483	0.83[AMR][1000 genomes]
rs8092497	0.91[AMR][1000 genomes]
rs8096128	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs9947855	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9967201	0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv469897	chr18:9674498-9870517	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv482461	chr18:9674498-9870517	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1064807	chr18:9695356-9770358	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr18:9700600-9707400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr18:9702200-9707000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr18:9702200-9707400	Weak transcription	Adipose Nuclei	Adipose
4	chr18:9702400-9707200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr18:9702800-9707000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr18:9703800-9707200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr18:9703800-9707200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr18:9704000-9707200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr18:9704000-9707400	Enhancers	K562	blood
10	chr18:9704200-9707400	Enhancers	A549	lung
11	chr18:9704400-9707400	Enhancers	NHDF-Ad	bronchial
12	chr18:9704600-9707400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr18:9704600-9707600	Enhancers	Stomach Mucosa	stomach
14	chr18:9704800-9707200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr18:9704800-9707400	Weak transcription	HSMM	muscle
16	chr18:9705000-9707200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr18:9705000-9707200	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr18:9705000-9707400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr18:9705000-9707400	Enhancers	HUVEC	blood vessel
20	chr18:9705000-9707400	Enhancers	NH-A	brain
21	chr18:9705200-9707400	Enhancers	NHEK	skin
22	chr18:9705400-9707000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr18:9705400-9707400	Enhancers	NHLF	lung
24	chr18:9705600-9706800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr18:9705600-9707400	Weak transcription	Fetal Kidney	kidney
26	chr18:9705600-9707800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr18:9705800-9707400	Weak transcription	Colonic Mucosa	Colon
28	chr18:9705800-9707400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr18:9706000-9707200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr18:9706000-9707400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
31	chr18:9706000-9707400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr18:9706000-9707600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr18:9706200-9707200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr18:9706200-9707200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr18:9706200-9707200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
36	chr18:9706200-9707400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr18:9706200-9707600	Enhancers	Placenta	Placenta
38	chr18:9706200-9707600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr18:9706200-9707600	Enhancers	HMEC	breast
40	chr18:9706200-9707800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr18:9706400-9707000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
42	chr18:9706400-9707000	Enhancers	Stomach Smooth Muscle	stomach
43	chr18:9706400-9707400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr18:9706400-9707400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
45	chr18:9706400-9707400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
46	chr18:9706400-9707400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr18:9706600-9706800	Enhancers	H9 Cell Line	embryonic stem cell
48	chr18:9706600-9706800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr18:9706600-9706800	Enhancers	Hela-S3	cervix
50	chr18:9706600-9706800	Flanking Active TSS	Osteobl	bone

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