Variant report

Variant	rs73423305
Chromosome Location	chr9:15493866-15493867
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	chr9:15485567..15487511-chr9:15490799..15493876,3	K562	blood:
2	chr9:15493173..15497838-chr9:15508681..15511905,4	K562	blood:

Variant related genes	Relation type
ENSG00000164985	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1057644	1.00[ASN][1000 genomes]
rs1057645	1.00[ASN][1000 genomes]
rs1057646	1.00[ASN][1000 genomes]
rs12001969	1.00[ASN][1000 genomes]
rs12002581	1.00[ASN][1000 genomes]
rs12003712	1.00[ASN][1000 genomes]
rs16933257	1.00[ASN][1000 genomes]
rs16933332	1.00[ASN][1000 genomes]
rs57900433	1.00[ASN][1000 genomes]
rs62571033	1.00[ASN][1000 genomes]
rs7032720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72704750	1.00[ASN][1000 genomes]
rs7856486	1.00[ASN][1000 genomes]
rs7856523	1.00[ASN][1000 genomes]
rs7856657	1.00[ASN][1000 genomes]
rs7858863	1.00[ASN][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	nsv517975	chr9:15286446-15534070	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv892625	chr9:15326251-16064850	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv892626	chr9:15389610-15694690	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv892627	chr9:15397969-15909450	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS 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 miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv892628	chr9:15420805-15528290	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:15442800-15508400	Strong transcription	Fetal Thymus	thymus
2	chr9:15444400-15495200	Weak transcription	Fetal Heart	heart
3	chr9:15447000-15509800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr9:15449800-15509000	Weak transcription	Small Intestine	intestine
5	chr9:15454600-15508600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr9:15460800-15510000	Weak transcription	Esophagus	oesophagus
7	chr9:15462800-15505200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr9:15467200-15501000	Weak transcription	Colon Smooth Muscle	Colon
9	chr9:15467400-15505600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr9:15469200-15505600	Weak transcription	NHLF	lung
11	chr9:15472200-15509000	Weak transcription	HMEC	breast
12	chr9:15476400-15504000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr9:15476600-15508800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr9:15476600-15510000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr9:15477000-15504800	Weak transcription	HSMM	muscle
16	chr9:15477000-15509600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr9:15477800-15498200	Weak transcription	Placenta	Placenta
18	chr9:15478000-15505000	Weak transcription	Adipose Nuclei	Adipose
19	chr9:15480200-15505200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr9:15481600-15509600	Weak transcription	Aorta	Aorta
21	chr9:15482600-15494200	Strong transcription	Dnd41	blood
22	chr9:15482600-15501000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr9:15483000-15504800	Weak transcription	Brain Hippocampus Middle	brain
24	chr9:15483000-15504800	Weak transcription	Brain Substantia Nigra	brain
25	chr9:15483200-15496000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr9:15483400-15494800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr9:15485200-15499200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr9:15485800-15501000	Weak transcription	HUVEC	blood vessel
29	chr9:15485800-15509800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr9:15486000-15505000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr9:15486200-15495000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr9:15486200-15501600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr9:15486400-15505800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr9:15486600-15495000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr9:15486600-15495000	Weak transcription	Osteobl	bone
36	chr9:15486600-15499000	Weak transcription	NH-A	brain
37	chr9:15486600-15504000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr9:15486800-15505600	Weak transcription	K562	blood
39	chr9:15488600-15501000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr9:15488600-15502000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr9:15488800-15495600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr9:15488800-15505400	Weak transcription	NHDF-Ad	bronchial
43	chr9:15489800-15494000	Strong transcription	A549	lung
44	chr9:15490600-15497200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr9:15491000-15494000	Strong transcription	Fetal Lung	lung
46	chr9:15491000-15497400	ZNF genes & repeats	GM12878-XiMat	blood
47	chr9:15491200-15494000	Strong transcription	Primary hematopoietic stem cells	blood
48	chr9:15491200-15494200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr9:15491200-15496600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
50	chr9:15491800-15494000	Strong transcription	Stomach Smooth Muscle	stomach

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