Variant report

Variant	rs650464
Chromosome Location	chr18:9672334-9672335
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9670935..9675283-chr18:9677129..9681931,4	K562	blood:
2	chr18:9663594..9667478-chr18:9668646..9672937,5	K562	blood:
3	chr18:9671290..9675239-chr18:9678368..9680804,3	MCF-7	breast:
4	chr18:9671775..9674338-chr18:9683094..9685173,2	K562	blood:
5	chr18:9672006..9673869-chr18:9677639..9679588,2	MCF-7	breast:
6	chr18:9610770..9614979-chr18:9672273..9674769,4	MCF-7	breast:
7	chr18:9671374..9674373-chr18:9705168..9708061,3	MCF-7	breast:
8	chr18:9574087..9575900-chr18:9670643..9673512,2	MCF-7	breast:
9	chr18:9613504..9616306-chr18:9671786..9673528,2	K562	blood:

No data

No data

No data

Extended variants
information (count: 10 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2124297	1.00[CHD][hapmap]
rs3322	1.00[CHD][hapmap]
rs7227801	1.00[CHD][hapmap]
rs7245045	1.00[CHD][hapmap]
rs8098931	1.00[CHD][hapmap]
rs9949213	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv576449	chr18:9623052-9700382	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs650464	SLMO1	cis	cerebellum	SCAN
rs650464	SLC22A20	trans	parietal	SCAN
rs650464	SEH1L	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9659600-9672800	Weak transcription	Placenta	Placenta
2	chr18:9659800-9685400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr18:9663600-9673400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr18:9666200-9672800	Weak transcription	HepG2	liver
5	chr18:9670800-9674200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr18:9671000-9673400	Enhancers	HMEC	breast
7	chr18:9671200-9672400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr18:9671200-9675000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr18:9671200-9675200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr18:9671600-9672800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr18:9671600-9672800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr18:9671600-9672800	Weak transcription	Aorta	Aorta
13	chr18:9671600-9672800	Weak transcription	Esophagus	oesophagus
14	chr18:9671600-9672800	Weak transcription	Fetal Muscle Leg	muscle
15	chr18:9671600-9673400	Weak transcription	Spleen	Spleen
16	chr18:9671600-9673400	Enhancers	NHEK	skin

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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