Variant report

Variant	rs73431254
Chromosome Location	chr9:18977074-18977075
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:18975628..18978246-chr9:18981249..18983402,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12003172	1.00[AMR][1000 genomes]
rs12115651	0.89[AFR][1000 genomes]
rs56784233	1.00[AMR][1000 genomes]
rs57612660	1.00[AMR][1000 genomes]
rs59270618	0.89[AFR][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]
rs67503152	1.00[AMR][1000 genomes]
rs728362	1.00[AMR][1000 genomes]
rs73427277	1.00[AMR][1000 genomes]
rs73429211	0.93[AFR][1000 genomes]
rs73429219	0.93[AFR][1000 genomes]
rs73429288	0.89[AFR][1000 genomes]
rs73431261	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73431265	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73431268	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73431271	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73431275	0.89[AFR][1000 genomes];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]
rs73435347	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
8	nsv892699	chr9:18945868-19025693	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1022697	chr9:18951530-19010894	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18971200-18979400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr9:18971200-18981600	Weak transcription	Gastric	stomach
3	chr9:18971400-18979200	Weak transcription	Right Ventricle	heart
4	chr9:18971400-18979400	Weak transcription	Fetal Muscle Leg	muscle
5	chr9:18975000-18980600	Enhancers	Fetal Thymus	thymus
6	chr9:18975200-18979400	Weak transcription	Lung	lung
7	chr9:18975800-18977400	Enhancers	Fetal Stomach	stomach
8	chr9:18976200-18977400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr9:18976200-18977400	Enhancers	Stomach Mucosa	stomach
10	chr9:18976200-18977400	Flanking Active TSS	Osteobl	bone
11	chr9:18976400-18977200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr9:18976400-18977200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr9:18976400-18977200	Flanking Active TSS	NHDF-Ad	bronchial
14	chr9:18976400-18977400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr9:18976400-18977600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr9:18976600-18977200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr9:18976600-18977200	Flanking Active TSS	HSMMtube	muscle
18	chr9:18976800-18977200	Enhancers	Primary hematopoietic stem cells	blood
19	chr9:18976800-18977200	Enhancers	Colonic Mucosa	Colon
20	chr9:18976800-18977400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr9:18976800-18979600	Weak transcription	Colon Smooth Muscle	Colon
22	chr9:18977000-18977200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr9:18977000-18977200	Enhancers	Primary T cells from cord blood	blood
24	chr9:18977000-18977200	Enhancers	NHEK	skin
25	chr9:18977000-18977400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr9:18977000-18977400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr9:18977000-18977400	Enhancers	Duodenum Mucosa	Duodenum
28	chr9:18977000-18977400	Enhancers	Fetal Kidney	kidney
29	chr9:18977000-18977400	Enhancers	Hela-S3	cervix
30	chr9:18977000-18977400	Enhancers	HUVEC	blood vessel
31	chr9:18977000-18977400	Enhancers	NH-A	brain
32	chr9:18977000-18977400	Enhancers	NHLF	lung
33	chr9:18977000-18977600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr9:18977000-18977600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr9:18977000-18977600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr9:18977000-18977600	Enhancers	Fetal Lung	lung
37	chr9:18977000-18977600	Enhancers	Dnd41	blood
38	chr9:18977000-18977800	Enhancers	HSMM	muscle
39	chr9:18977000-18979400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr9:18977000-18979400	Weak transcription	Ovary	ovary
41	chr9:18977000-18979800	Weak transcription	Fetal Heart	heart
42	chr9:18977000-18980000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr9:18977000-18981400	Weak transcription	Adipose Nuclei	Adipose
44	chr9:18977000-18981400	Weak transcription	Aorta	Aorta
45	chr9:18977000-18981400	Weak transcription	Rectal Smooth Muscle	rectum
46	chr9:18977000-18982200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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