Variant report

Variant	rs945440
Chromosome Location	chr9:18907551-18907552
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:18906548..18908118-chr9:18909861..18912820,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10756994	0.85[JPT][hapmap]
rs10811053	0.85[JPT][hapmap]
rs10811055	0.83[YRI][hapmap]
rs10963814	0.85[JPT][hapmap]
rs11794832	0.82[CEU][hapmap]
rs2209778	0.80[JPT][hapmap]
rs3780223	0.84[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491807	chr9:18243672-19009770	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv525659	chr9:18288212-19009041	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1019127	chr9:18288271-18996288	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv892692	chr9:18519699-19045502	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv949111	chr9:18758205-18994588	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv1017820	chr9:18882219-19587377	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
7	nsv540078	chr9:18882219-19587377	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs945440	ADAMTSL1	cis	parietal	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18894800-18909200	Weak transcription	Fetal Heart	heart
2	chr9:18896800-18910600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr9:18897000-18910600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr9:18897400-18920400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr9:18903000-18909400	Enhancers	Fetal Thymus	thymus
6	chr9:18904800-18908000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:18905200-18907600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr9:18905400-18907600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr9:18905400-18908000	Genic enhancers	NHDF-Ad	bronchial
10	chr9:18905600-18907600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr9:18905600-18907600	Genic enhancers	Muscle Satellite Cultured Cells	--
12	chr9:18905600-18909600	Strong transcription	Fetal Stomach	stomach
13	chr9:18905600-18912000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr9:18906000-18907600	Weak transcription	HSMMtube	muscle
15	chr9:18906000-18907800	Genic enhancers	HSMM	muscle
16	chr9:18906000-18908200	Weak transcription	Aorta	Aorta
17	chr9:18906200-18908000	Genic enhancers	Osteobl	bone
18	chr9:18906600-18908000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr9:18906600-18908600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr9:18906800-18908600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr9:18907000-18908000	Genic enhancers	Fetal Muscle Leg	muscle
22	chr9:18907000-18908200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr9:18907200-18909200	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr9:18907200-18909200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr9:18907200-18909800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr9:18907400-18907600	Genic enhancers	NH-A	brain
27	chr9:18907400-18909000	Strong transcription	NHLF	lung
28	chr9:18907400-18909800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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