Variant report

Variant	rs67503152
Chromosome Location	chr9:18911183-18911184
allele	-/GAGG/TGAG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:18908849..18913182-chr9:18913314..18916525,3	K562	blood:
2	chr9:18906548..18908118-chr9:18909861..18912820,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12003172	1.00[AMR][1000 genomes]
rs2060364	1.00[AMR][1000 genomes]
rs56784233	1.00[AMR][1000 genomes]
rs57612660	1.00[AMR][1000 genomes]
rs59273023	1.00[AMR][1000 genomes]
rs59418778	1.00[AMR][1000 genomes]
rs59981039	1.00[AMR][1000 genomes]
rs61045011	1.00[AMR][1000 genomes]
rs7046895	1.00[AMR][1000 genomes]
rs728362	1.00[AMR][1000 genomes]
rs73427277	1.00[AMR][1000 genomes]
rs73431254	1.00[AMR][1000 genomes]
rs73431261	1.00[AMR][1000 genomes]
rs73431265	1.00[AMR][1000 genomes]
rs73431268	1.00[AMR][1000 genomes]
rs73431271	1.00[AMR][1000 genomes]
rs73431275	1.00[AMR][1000 genomes]
rs73431285	1.00[AMR][1000 genomes]
rs73433225	1.00[AMR][1000 genomes]
rs73433240	1.00[AMR][1000 genomes]
rs73433252	1.00[AMR][1000 genomes]
rs73435304	1.00[AMR][1000 genomes]
rs73435323	1.00[AMR][1000 genomes]

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

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18897400-18920400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr9:18905600-18912000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:18907600-18911400	Strong transcription	Muscle Satellite Cultured Cells	--
4	chr9:18907800-18912400	Strong transcription	HSMM	muscle
5	chr9:18908000-18911400	Strong transcription	NHDF-Ad	bronchial
6	chr9:18908000-18912600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:18908000-18919400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr9:18908200-18911800	Enhancers	Primary T cells from cord blood	blood
9	chr9:18908200-18912000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr9:18909200-18911200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr9:18909200-18911600	Enhancers	Fetal Heart	heart
12	chr9:18909400-18911400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr9:18909400-18911400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr9:18909400-18911400	Enhancers	NHLF	lung
15	chr9:18909400-18912000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr9:18909600-18911800	Enhancers	Fetal Muscle Leg	muscle
17	chr9:18909800-18911200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr9:18909800-18911400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr9:18909800-18911400	Enhancers	NH-A	brain
20	chr9:18909800-18913200	Enhancers	Fetal Thymus	thymus
21	chr9:18909800-18924400	Weak transcription	Aorta	Aorta
22	chr9:18910000-18912000	Enhancers	Fetal Stomach	stomach
23	chr9:18910200-18911200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr9:18910200-18911400	Weak transcription	Placenta	Placenta
25	chr9:18910400-18911200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr9:18910600-18911400	Enhancers	Fetal Kidney	kidney
27	chr9:18910600-18911400	Enhancers	Stomach Smooth Muscle	stomach
28	chr9:18910600-18912400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr9:18910800-18911400	Enhancers	Gastric	stomach
30	chr9:18910800-18911600	Enhancers	Fetal Brain Female	brain
31	chr9:18910800-18912400	Enhancers	H1 Cell Line	embryonic stem cell
32	chr9:18910800-18912400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr9:18911000-18911400	Enhancers	H9 Cell Line	embryonic stem cell
34	chr9:18911000-18911400	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr9:18911000-18911400	Enhancers	Fetal Intestine Small	intestine
36	chr9:18911000-18911400	Flanking Active TSS	Fetal Lung	lung
37	chr9:18911000-18911600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr9:18911000-18911800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr9:18911000-18912200	Strong transcription	Osteobl	bone
40	chr9:18911000-18912400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr9:18911000-18912600	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr9:18911000-18922200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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