Variant report

Variant	rs73881322
Chromosome Location	chr22:31490994-31490995
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:31490864-31491899	U87	brain:	n/a	n/a
2	POLR2A	chr22:31490864-31492034	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:31490963..31492744-chr22:31538317..31540744,2	MCF-7	breast:
2	chr22:31360789..31362753-chr22:31489810..31492663,2	MCF-7	breast:
3	chr22:31476077..31485695-chr22:31490616..31506508,29	K562	blood:
4	chr22:31484639..31486422-chr22:31489599..31491327,2	MCF-7	breast:

Variant related genes	Relation type
SMTN	TF binding region
ENSG00000273387	Chromatin interaction
ENSG00000183963	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs5997885	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9896	chr22:31369204-31513933	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv829173	chr22:31450043-31543956	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv914975	chr22:31466083-31514477	Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv914976	chr22:31475307-31543260	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv914977	chr22:31477563-31514477	Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31481400-31494200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:31481400-31494600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr22:31481600-31491800	Weak transcription	Small Intestine	intestine
4	chr22:31481600-31493800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr22:31481800-31494400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr22:31482000-31494600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr22:31482000-31496200	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
8	chr22:31482000-31497400	Strong transcription	Aorta	Aorta
9	chr22:31482000-31497800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr22:31482000-31497800	Weak transcription	Hela-S3	cervix
11	chr22:31482000-31500800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr22:31482000-31501000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr22:31482000-31501200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr22:31482200-31498800	Strong transcription	Fetal Lung	lung
15	chr22:31482400-31494400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr22:31482400-31497800	Strong transcription	Muscle Satellite Cultured Cells	--
17	chr22:31482600-31491200	Strong transcription	Lung	lung
18	chr22:31482800-31497800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr22:31482800-31497800	Strong transcription	Osteobl	bone
20	chr22:31483000-31494400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr22:31483000-31498600	Strong transcription	Thymus	Thymus
22	chr22:31483200-31497800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr22:31483200-31497800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr22:31483200-31500600	Strong transcription	HUVEC	blood vessel
25	chr22:31483200-31502000	Strong transcription	NHEK	skin
26	chr22:31483400-31493800	Strong transcription	Fetal Intestine Small	intestine
27	chr22:31483400-31493800	Weak transcription	Stomach Mucosa	stomach
28	chr22:31483600-31497400	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr22:31483600-31497800	Strong transcription	HMEC	breast
30	chr22:31483800-31493800	Strong transcription	NHDF-Ad	bronchial
31	chr22:31483800-31494000	Strong transcription	Placenta Amnion	Placenta Amnion
32	chr22:31483800-31497400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr22:31483800-31499600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr22:31484000-31498600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr22:31484000-31502600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr22:31484400-31499200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr22:31484600-31494400	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr22:31485200-31500800	Weak transcription	Fetal Thymus	thymus
39	chr22:31485200-31503000	Weak transcription	Fetal Kidney	kidney
40	chr22:31485400-31498000	Strong transcription	Adipose Nuclei	Adipose
41	chr22:31485400-31500000	Strong transcription	Pancreas	Pancrea
42	chr22:31485600-31493200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr22:31485600-31493200	Strong transcription	NHLF	lung
44	chr22:31485800-31494400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr22:31485800-31502800	Weak transcription	GM12878-XiMat	blood
46	chr22:31486000-31493800	Strong transcription	Duodenum Mucosa	Duodenum
47	chr22:31486000-31494800	Weak transcription	Primary B cells from cord blood	blood
48	chr22:31486200-31491200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr22:31486600-31493800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr22:31486600-31494600	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon

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