Variant report

Variant	rs7029847
Chromosome Location	chr9:5969575-5969576
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	chr9:5967488..5970171-chr9:6006384..6008559,2	K562	blood:

Variant related genes	Relation type
ENSG00000263575	Chromatin interaction
ENSG00000183354	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10116214	1.00[EUR][1000 genomes]
rs10125832	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10975350	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10975351	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10975362	1.00[EUR][1000 genomes]
rs10975363	1.00[EUR][1000 genomes]
rs10975364	1.00[EUR][1000 genomes]
rs10975367	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10975372	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10975377	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11506678	1.00[EUR][1000 genomes]
rs11793956	0.94[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12337300	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12337445	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12337790	1.00[EUR][1000 genomes]
rs12339713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12339886	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12339889	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12340153	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12340531	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12341021	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12342166	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12342282	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12343325	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12345849	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12351533	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1411949	1.00[EUR][1000 genomes]
rs1993912	0.94[AFR][1000 genomes]
rs28431078	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28706504	1.00[EUR][1000 genomes]
rs386775	1.00[EUR][1000 genomes]
rs57154492	1.00[EUR][1000 genomes]
rs58291302	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60037728	1.00[EUR][1000 genomes]
rs7022080	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73383109	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73383113	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73383114	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73383144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73385128	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73387085	0.92[AFR][1000 genomes]
rs73389036	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389044	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397307	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73397376	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73399307	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73639554	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73639568	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7853706	0.92[AFR][1000 genomes]
rs7854980	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7858084	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7858846	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7874032	0.92[ASN][1000 genomes]
rs7875607	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9299025	0.80[AMR][1000 genomes];1.00[EUR][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	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
9	nsv613204	chr9:5931216-5971977	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:5923200-5971800	Weak transcription	NHEK	skin
2	chr9:5923200-5972400	Weak transcription	Aorta	Aorta
3	chr9:5924600-5977000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr9:5924600-5977000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr9:5926800-5972600	Weak transcription	Fetal Intestine Small	intestine
6	chr9:5940000-6006800	Weak transcription	Gastric	stomach
7	chr9:5940200-5973800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr9:5948000-6006000	Weak transcription	Right Ventricle	heart
9	chr9:5948200-5976800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr9:5949600-5976400	Weak transcription	Fetal Heart	heart
11	chr9:5949800-5976800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr9:5950200-5973600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr9:5950600-6006000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr9:5951200-5976800	Weak transcription	Psoas Muscle	Psoas
15	chr9:5952400-5971400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr9:5952400-5973600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr9:5952400-5973600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr9:5952400-5973600	Weak transcription	Ovary	ovary
19	chr9:5952400-5976600	Weak transcription	Colon Smooth Muscle	Colon
20	chr9:5954800-5976800	Weak transcription	Small Intestine	intestine
21	chr9:5955000-5993600	Weak transcription	Lung	lung
22	chr9:5955800-5977000	Weak transcription	Brain Hippocampus Middle	brain
23	chr9:5956200-5988000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr9:5957400-5978600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr9:5957400-6004400	Weak transcription	Brain Germinal Matrix	brain
26	chr9:5957600-5973200	Weak transcription	Fetal Brain Female	brain
27	chr9:5957600-5991800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr9:5958200-5986200	Weak transcription	Thymus	Thymus
29	chr9:5958600-5972400	Weak transcription	Pancreas	Pancrea
30	chr9:5958600-5973600	Weak transcription	Esophagus	oesophagus
31	chr9:5958600-5977000	Weak transcription	Spleen	Spleen
32	chr9:5958600-5977200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr9:5963600-5971400	Weak transcription	HUVEC	blood vessel
34	chr9:5963800-5978600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr9:5964000-5971800	Weak transcription	Hela-S3	cervix
36	chr9:5964600-5976600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr9:5964800-5977000	Weak transcription	Stomach Mucosa	stomach
38	chr9:5965200-5970200	Strong transcription	Primary B cells from cord blood	blood
39	chr9:5965400-5986800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr9:5965600-5969800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr9:5965800-5971600	Weak transcription	Osteobl	bone
42	chr9:5966200-5977000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr9:5966800-5970800	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr9:5967000-5970000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr9:5967000-5970000	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr9:5967000-5977000	Weak transcription	K562	blood
47	chr9:5967000-5996600	Weak transcription	Brain Angular Gyrus	brain
48	chr9:5967200-5969600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr9:5967200-5969800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr9:5967200-5970000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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