Variant report

Variant	rs73397307
Chromosome Location	chr9:5924653-5924654
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:5922425..5924956-chr9:5927936..5930339,2	K562	blood:
2	chr9:5918670..5921230-chr9:5923943..5926337,3	K562	blood:
3	chr9:5924252..5926200-chr9:5929178..5931447,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183354	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10116214	1.00[EUR][1000 genomes]
rs10125832	1.00[EUR][1000 genomes]
rs10975350	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10975351	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10975362	1.00[EUR][1000 genomes]
rs10975363	1.00[EUR][1000 genomes]
rs10975364	1.00[EUR][1000 genomes]
rs10975367	0.92[ASN][1000 genomes]
rs10975372	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10975377	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11506678	1.00[EUR][1000 genomes]
rs11793956	1.00[ASN][1000 genomes]
rs12337300	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12337445	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12337790	1.00[EUR][1000 genomes]
rs12339713	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12339886	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12339889	1.00[EUR][1000 genomes]
rs12340153	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12340531	1.00[EUR][1000 genomes]
rs12341021	1.00[EUR][1000 genomes]
rs12342166	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12342282	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12343325	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12345849	1.00[EUR][1000 genomes]
rs12351533	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1411949	1.00[EUR][1000 genomes]
rs28431078	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28706504	1.00[EUR][1000 genomes]
rs57154492	1.00[EUR][1000 genomes]
rs58291302	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60037728	1.00[EUR][1000 genomes]
rs7022080	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7029847	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73383109	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73383113	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73383114	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73383144	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73385128	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73389036	1.00[EUR][1000 genomes]
rs73389044	1.00[EUR][1000 genomes]
rs73397376	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399307	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73639554	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73639568	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7854980	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7858084	1.00[EUR][1000 genomes]
rs7858846	1.00[EUR][1000 genomes]
rs7874032	1.00[ASN][1000 genomes]
rs7875607	1.00[EUR][1000 genomes]
rs9299025	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017103	chr9:5509431-5987907	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv539965	chr9:5509431-5987907	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv948847	chr9:5712626-6417677	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1031086	chr9:5806949-6630686	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv539967	chr9:5806949-6630686	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv892155	chr9:5825768-6044937	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS 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 miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv892156	chr9:5892375-6011757	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1015450	chr9:5915640-6114652	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:5898400-5947200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr9:5915800-5925800	Weak transcription	Hela-S3	cervix
3	chr9:5918400-5928400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr9:5918800-5928800	Weak transcription	Stomach Mucosa	stomach
5	chr9:5919000-5939800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr9:5919400-5924800	Strong transcription	Primary B cells from cord blood	blood
7	chr9:5919600-5924800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr9:5919600-5925200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr9:5919600-5925200	Strong transcription	HSMM	muscle
10	chr9:5919800-5924800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr9:5919800-5924800	Strong transcription	Rectal Smooth Muscle	rectum
12	chr9:5919800-5925000	Strong transcription	Fetal Brain Female	brain
13	chr9:5919800-5925000	Strong transcription	Placenta	Placenta
14	chr9:5919800-5925400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr9:5919800-5927600	Strong transcription	Adipose Nuclei	Adipose
16	chr9:5919800-5929400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr9:5919800-5935600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr9:5920000-5924800	Strong transcription	Duodenum Smooth Muscle	Duodenum
19	chr9:5920000-5925000	Strong transcription	Primary B cells from peripheral blood	blood
20	chr9:5920000-5925200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr9:5920000-5925200	Strong transcription	Fetal Intestine Large	intestine
22	chr9:5920000-5925200	Strong transcription	Fetal Muscle Trunk	muscle
23	chr9:5920000-5925400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr9:5920000-5927200	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr9:5920000-5929200	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr9:5920200-5924800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr9:5920200-5925000	Strong transcription	Primary hematopoietic stem cells	blood
28	chr9:5920200-5925000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr9:5920200-5925200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr9:5920200-5925200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr9:5920200-5926400	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr9:5920400-5924800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr9:5920400-5924800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr9:5920400-5924800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr9:5920400-5924800	Strong transcription	Stomach Smooth Muscle	stomach
36	chr9:5920400-5925000	Strong transcription	NH-A	brain
37	chr9:5920600-5925000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr9:5920600-5925400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr9:5920800-5931200	Weak transcription	A549	lung
40	chr9:5920800-5938800	Weak transcription	Small Intestine	intestine
41	chr9:5921200-5926000	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr9:5921200-5927400	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr9:5921200-5939800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr9:5921200-5950400	Weak transcription	Psoas Muscle	Psoas
45	chr9:5921400-5924800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr9:5921600-5925200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr9:5921600-5925400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr9:5921800-5924800	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr9:5921800-5924800	Strong transcription	NHDF-Ad	bronchial
50	chr9:5921800-5925400	Strong transcription	Osteobl	bone

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