Variant report

Variant	rs12006472
Chromosome Location	chr9:15507801-15507802
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:15507256..15510187-chr9:15510704..15514473,5	K562	blood:
2	chr9:15478298..15480267-chr9:15506894..15508631,2	K562	blood:
3	chr9:15505901..15508536-chr9:15509370..15512182,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164985	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12000752	1.00[AMR][1000 genomes]
rs12001476	1.00[ASN][1000 genomes]
rs12001969	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12002581	1.00[AMR][1000 genomes]
rs12003252	1.00[AMR][1000 genomes]
rs12003556	1.00[AMR][1000 genomes]
rs12003712	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12004985	1.00[AMR][1000 genomes]
rs12005366	1.00[ASN][1000 genomes]
rs12005949	1.00[AMR][1000 genomes]
rs12006227	1.00[AMR][1000 genomes]
rs35722073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35982923	1.00[AMR][1000 genomes]
rs6474919	1.00[AMR][1000 genomes]
rs7031671	1.00[ASN][1000 genomes]
rs7034812	1.00[ASN][1000 genomes]
rs73417320	1.00[ASN][1000 genomes]
rs7874115	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:123 , 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	chr9:15447000-15509800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr9:15449800-15509000	Weak transcription	Small Intestine	intestine
4	chr9:15454600-15508600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr9:15460800-15510000	Weak transcription	Esophagus	oesophagus
6	chr9:15472200-15509000	Weak transcription	HMEC	breast
7	chr9:15476600-15508800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr9:15476600-15510000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr9:15477000-15509600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr9:15481600-15509600	Weak transcription	Aorta	Aorta
11	chr9:15485800-15509800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr9:15492600-15508200	Weak transcription	Brain Angular Gyrus	brain
13	chr9:15492600-15509800	Weak transcription	Colonic Mucosa	Colon
14	chr9:15493000-15509800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr9:15493000-15510000	Weak transcription	Gastric	stomach
16	chr9:15493000-15510000	Weak transcription	Lung	lung
17	chr9:15493000-15510000	Weak transcription	Pancreas	Pancrea
18	chr9:15493000-15510000	Weak transcription	Spleen	Spleen
19	chr9:15493200-15509000	Weak transcription	Ovary	ovary
20	chr9:15493200-15509600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr9:15493400-15510000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:15494000-15509200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr9:15494000-15510000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr9:15495800-15509000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr9:15496000-15508400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr9:15496400-15508200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr9:15496400-15508200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr9:15496400-15508800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr9:15496600-15508400	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr9:15496600-15508600	Weak transcription	Fetal Heart	heart
31	chr9:15496800-15508600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
32	chr9:15499600-15508200	Genic enhancers	Dnd41	blood
33	chr9:15500400-15508000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr9:15500400-15508000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr9:15500400-15508800	Strong transcription	Fetal Muscle Trunk	muscle
36	chr9:15500400-15509800	Weak transcription	Psoas Muscle	Psoas
37	chr9:15500400-15510000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr9:15501000-15510000	Weak transcription	Stomach Mucosa	stomach
39	chr9:15501600-15508800	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr9:15502400-15508800	Strong transcription	Fetal Intestine Large	intestine
41	chr9:15503000-15508200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr9:15504000-15508400	Strong transcription	A549	lung
43	chr9:15504000-15508800	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr9:15504200-15508000	Strong transcription	Osteobl	bone
45	chr9:15504200-15508800	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr9:15504400-15508000	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr9:15504600-15508800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr9:15504800-15508000	Strong transcription	HepG2	liver
49	chr9:15504800-15508000	Strong transcription	HUVEC	blood vessel
50	chr9:15504800-15508200	Strong transcription	Fetal Muscle Leg	muscle

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