Variant report

Variant	rs73431252
Chromosome Location	chr9:18976672-18976673
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: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs4129687	1.00[AMR][1000 genomes]
rs61460577	0.86[AFR][1000 genomes]
rs61464373	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73431212	0.87[AFR][1000 genomes]
rs73431220	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73431231	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73431238	1.00[EUR][1000 genomes]
rs73431247	1.00[AMR][1000 genomes]
rs73431249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73433252	1.00[EUR][1000 genomes]
rs7859079	0.83[AFR][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:51 , 50 per page) page: 1 2

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	chr9:18976200-18976800	Enhancers	Colon Smooth Muscle	Colon
9	chr9:18976200-18977000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr9:18976200-18977000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr9:18976200-18977400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr9:18976200-18977400	Enhancers	Stomach Mucosa	stomach
13	chr9:18976200-18977400	Flanking Active TSS	Osteobl	bone
14	chr9:18976400-18976800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr9:18976400-18976800	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr9:18976400-18976800	Active TSS	Aorta	Aorta
17	chr9:18976400-18976800	Active TSS	Duodenum Mucosa	Duodenum
18	chr9:18976400-18976800	Weak transcription	Fetal Heart	heart
19	chr9:18976400-18976800	Active TSS	Ovary	ovary
20	chr9:18976400-18976800	Flanking Bivalent TSS/Enh	NH-A	brain
21	chr9:18976400-18977000	Flanking Active TSS	NHLF	lung
22	chr9:18976400-18977200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr9:18976400-18977200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr9:18976400-18977200	Flanking Active TSS	NHDF-Ad	bronchial
25	chr9:18976400-18977400	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr9:18976400-18977600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr9:18976600-18976800	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr9:18976600-18976800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr9:18976600-18976800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr9:18976600-18976800	Active TSS	Hela-S3	cervix
31	chr9:18976600-18977000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr9:18976600-18977000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr9:18976600-18977000	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr9:18976600-18977000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr9:18976600-18977000	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr9:18976600-18977000	Flanking Active TSS	Fetal Kidney	kidney
37	chr9:18976600-18977000	Flanking Active TSS	Fetal Lung	lung
38	chr9:18976600-18977000	Enhancers	Pancreas	Pancrea
39	chr9:18976600-18977000	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr9:18976600-18977000	Active TSS	Rectal Mucosa Donor 31	rectum
41	chr9:18976600-18977000	Active TSS	Rectal Smooth Muscle	rectum
42	chr9:18976600-18977000	Active TSS	Right Atrium	heart
43	chr9:18976600-18977000	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr9:18976600-18977000	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr9:18976600-18977000	Bivalent Enhancer	Dnd41	blood
46	chr9:18976600-18977000	Enhancers	GM12878-XiMat	blood
47	chr9:18976600-18977000	Flanking Active TSS	HSMM	muscle
48	chr9:18976600-18977000	Flanking Active TSS	HUVEC	blood vessel
49	chr9:18976600-18977000	Flanking Active TSS	NHEK	skin
50	chr9:18976600-18977200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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