Variant report

Variant	rs7184247
Chromosome Location	chr16:81907752-81907753
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81812978..81813631-chr16:81907214..81907808,2	K562	blood:
2	chr16:81437241..81437756-chr16:81907474..81908022,2	K562	blood:
3	chr16:81812030..81814193-chr16:81906957..81908685,2	MCF-7	breast:
4	chr16:81771271..81771837-chr16:81907671..81908486,2	K562	blood:
5	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: 54 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10871423	0.82[ASN][1000 genomes]
rs11150420	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11150421	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12102309	0.83[ASN][1000 genomes]
rs12445580	0.82[ASN][1000 genomes]
rs12716921	0.86[CHB][hapmap];0.83[ASN][1000 genomes]
rs12716922	0.82[CHB][hapmap];0.83[ASN][1000 genomes]
rs12918486	0.95[CHB][hapmap];0.90[ASN][1000 genomes]
rs12923507	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13330054	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3934985	0.82[ASN][1000 genomes]
rs3935876	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4243218	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4889420	0.82[ASN][1000 genomes]
rs4889421	1.00[CEU][hapmap];0.87[CHB][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.85[LWK][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4889422	0.86[YRI][hapmap]
rs4997770	0.83[ASN][1000 genomes]
rs4997771	0.87[CHB][hapmap];0.80[MEX][hapmap];0.83[ASN][1000 genomes]
rs4997772	0.86[CHB][hapmap];0.83[ASN][1000 genomes]
rs4997773	0.83[ASN][1000 genomes]
rs4997775	0.83[ASN][1000 genomes]
rs55822905	0.83[ASN][1000 genomes]
rs7187163	0.83[ASN][1000 genomes]
rs7187837	0.83[ASN][1000 genomes]
rs7189106	0.90[ASN][1000 genomes]
rs7189843	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.85[LWK][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.81[YRI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7192509	0.83[ASN][1000 genomes]
rs7192535	0.87[CHB][hapmap];0.80[MEX][hapmap];0.83[ASN][1000 genomes]
rs7193967	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7195281	0.82[ASN][1000 genomes]
rs7196410	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7197677	0.90[ASN][1000 genomes]
rs7197685	0.83[ASN][1000 genomes]
rs7197689	0.80[CHB][hapmap];0.83[ASN][1000 genomes]
rs7197832	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs7198813	0.83[ASN][1000 genomes]
rs7199578	0.87[CHB][hapmap];0.80[MEX][hapmap];0.83[ASN][1000 genomes]
rs7199941	0.81[CHB][hapmap];0.83[ASN][1000 genomes]
rs7200324	0.83[ASN][1000 genomes]
rs7200626	0.82[ASN][1000 genomes]
rs7200783	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7202250	0.82[ASN][1000 genomes]
rs72837428	0.80[ASN][1000 genomes]
rs72837429	0.80[ASN][1000 genomes]
rs7342694	0.87[CHB][hapmap];0.80[MEX][hapmap];0.83[ASN][1000 genomes]
rs8058099	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8058287	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8058290	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8058331	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9923780	0.83[ASN][1000 genomes]
rs9924101	0.81[ASN][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:41 , 50 per page) page: 1

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	chr16:81901000-81907800	Weak transcription	Liver	Liver
10	chr16:81901000-81929200	Weak transcription	Brain Substantia Nigra	brain
11	chr16:81901200-81911200	Weak transcription	Lung	lung
12	chr16:81901200-81925000	Weak transcription	Adipose Nuclei	Adipose
13	chr16:81902600-81908000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr16:81902800-81955600	Weak transcription	Fetal Kidney	kidney
15	chr16:81903200-81910000	Weak transcription	Spleen	Spleen
16	chr16:81904400-81916800	Weak transcription	Fetal Intestine Large	intestine
17	chr16:81905800-81943000	Weak transcription	Small Intestine	intestine
18	chr16:81906000-81908400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr16:81906000-81909600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr16:81906200-81907800	Enhancers	Primary T cells fromperipheralblood	blood
21	chr16:81906200-81908400	Genic enhancers	Primary B cells from peripheral blood	blood
22	chr16:81906200-81908400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr16:81906200-81908400	Genic enhancers	GM12878-XiMat	blood
24	chr16:81906400-81908000	Enhancers	HUVEC	blood vessel
25	chr16:81906400-81908400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr16:81906400-81908400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr16:81906600-81907800	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr16:81906600-81908000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr16:81906600-81908000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr16:81906600-81908200	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr16:81906800-81908000	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr16:81906800-81908600	Enhancers	Primary B cells from cord blood	blood
33	chr16:81907000-81907800	Enhancers	Primary hematopoietic stem cells	blood
34	chr16:81907200-81908200	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr16:81907200-81908200	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr16:81907200-81908200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr16:81907400-81908400	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr16:81907400-81909400	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr16:81907400-81909600	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr16:81907600-81908000	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr16:81907600-81909000	Weak transcription	Primary monocytes fromperipheralblood	blood

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