Variant report

Variant	rs7189462
Chromosome Location	chr16:81907867-81907868
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81437241..81437756-chr16:81907474..81908022,2	K562	blood:
2	chr16:81812030..81814193-chr16:81906957..81908685,2	MCF-7	breast:
3	chr16:81771271..81771837-chr16:81907671..81908486,2	K562	blood:
4	chr16:81771864..81773960-chr16:81907578..81909544,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197943	Chromatin interaction
ENSG00000261218	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10871423	0.88[EUR][1000 genomes]
rs11150421	0.83[ASN][1000 genomes]
rs12102309	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12445580	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12716921	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12716922	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12918486	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3934985	0.80[AMR][1000 genomes]
rs4499225	0.86[ASN][1000 genomes]
rs4889420	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4889421	0.83[ASN][1000 genomes]
rs4997770	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4997771	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4997772	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4997773	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4997775	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55822905	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55873405	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56215311	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7187163	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7187837	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7189106	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7189843	0.84[ASN][1000 genomes]
rs7192509	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7192535	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7195281	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7196410	0.84[ASN][1000 genomes]
rs7197677	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7197685	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7197689	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7197832	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7198813	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7199578	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7199941	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7200324	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7200626	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7200783	0.86[ASN][1000 genomes]
rs7202250	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72837428	0.91[ASN][1000 genomes]
rs72837429	0.91[ASN][1000 genomes]
rs7342694	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8058290	0.86[ASN][1000 genomes]
rs9923780	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9924101	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9932652	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv573365	chr16:81804972-81975892	Strong transcription Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1065088	chr16:81878481-81953248	Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv14137	chr16:81904767-81909407	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81876200-81918200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr16:81880000-81911200	Weak transcription	Pancreas	Pancrea
3	chr16:81880400-81908200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr16:81894800-81912400	Weak transcription	Fetal Intestine Small	intestine
5	chr16:81896800-81910400	Weak transcription	Gastric	stomach
6	chr16:81898800-81912400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr16:81899000-81934600	Weak transcription	Right Atrium	heart
8	chr16:81900800-81925000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr16:81901000-81929200	Weak transcription	Brain Substantia Nigra	brain
10	chr16:81901200-81911200	Weak transcription	Lung	lung
11	chr16:81901200-81925000	Weak transcription	Adipose Nuclei	Adipose
12	chr16:81902600-81908000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr16:81902800-81955600	Weak transcription	Fetal Kidney	kidney
14	chr16:81903200-81910000	Weak transcription	Spleen	Spleen
15	chr16:81904400-81916800	Weak transcription	Fetal Intestine Large	intestine
16	chr16:81905800-81943000	Weak transcription	Small Intestine	intestine
17	chr16:81906000-81908400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr16:81906000-81909600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr16:81906200-81908400	Genic enhancers	Primary B cells from peripheral blood	blood
20	chr16:81906200-81908400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr16:81906200-81908400	Genic enhancers	GM12878-XiMat	blood
22	chr16:81906400-81908000	Enhancers	HUVEC	blood vessel
23	chr16:81906400-81908400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr16:81906400-81908400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr16:81906600-81908000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr16:81906600-81908000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr16:81906600-81908200	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr16:81906800-81908000	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr16:81906800-81908600	Enhancers	Primary B cells from cord blood	blood
30	chr16:81907200-81908200	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr16:81907200-81908200	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr16:81907200-81908200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr16:81907400-81908400	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr16:81907400-81909400	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr16:81907400-81909600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr16:81907600-81908000	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr16:81907600-81909000	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr16:81907800-81908000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr16:81907800-81908000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr16:81907800-81908000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr16:81907800-81908000	Enhancers	Colon Smooth Muscle	Colon
42	chr16:81907800-81908200	Weak transcription	Primary hematopoietic stem cells	blood
43	chr16:81907800-81908400	Enhancers	Liver	Liver
44	chr16:81907800-81908400	Enhancers	K562	blood
45	chr16:81907800-81909400	Enhancers	H9 Cell Line	embryonic stem cell
46	chr16:81907800-81909600	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr16:81907800-81909800	Enhancers	H1 Cell Line	embryonic stem cell
48	chr16:81907800-81909800	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr16:81907800-81910000	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr16:81907800-81910000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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