Variant report

Variant	rs17310536
Chromosome Location	chr5:112231054-112231055
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112229105..112231564-chr5:112256009..112258074,2	K562	blood:
2	chr5:112229577..112231459-chr5:112236387..112238018,2	MCF-7	breast:
3	chr5:112217974..112220953-chr5:112229731..112232331,2	K562	blood:

Variant related genes	Relation type
ENSG00000249947	Chromatin interaction
ENSG00000129625	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs12521395	0.89[AMR][1000 genomes]
rs13185006	1.00[AMR][1000 genomes]
rs17135067	0.93[EUR][1000 genomes]
rs17135193	0.86[EUR][1000 genomes]
rs17286230	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17290064	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17311019	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17311096	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17359859	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17360045	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17360289	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17369211	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17369487	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17370550	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17371015	0.93[EUR][1000 genomes]
rs1833560	0.86[EUR][1000 genomes]
rs4235776	1.00[AMR][1000 genomes]
rs4235780	1.00[AMR][1000 genomes]
rs4235781	1.00[AMR][1000 genomes]
rs4235782	1.00[AMR][1000 genomes]
rs4235783	1.00[AMR][1000 genomes]
rs4235784	1.00[AMR][1000 genomes]
rs4235785	1.00[AMR][1000 genomes]
rs4260661	1.00[AMR][1000 genomes]
rs4295378	1.00[AMR][1000 genomes]
rs4519915	1.00[AMR][1000 genomes]
rs4705534	1.00[AMR][1000 genomes]
rs4705535	0.89[AMR][1000 genomes]
rs4705757	1.00[AMR][1000 genomes]
rs4705759	1.00[AMR][1000 genomes]
rs4705760	1.00[AMR][1000 genomes]
rs4705761	1.00[AMR][1000 genomes]
rs4705764	1.00[AMR][1000 genomes]
rs55684649	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55771309	0.81[EUR][1000 genomes]
rs55771959	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55798475	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55901036	1.00[AMR][1000 genomes]
rs55940904	1.00[AMR][1000 genomes]
rs56023848	1.00[AMR][1000 genomes]
rs56052440	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56155803	0.81[EUR][1000 genomes]
rs56194248	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56218335	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56235416	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56265422	1.00[AMR][1000 genomes]
rs56320268	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56321569	0.93[EUR][1000 genomes]
rs56328836	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56405915	0.81[EUR][1000 genomes]
rs57043077	0.93[EUR][1000 genomes]
rs60532731	0.81[EUR][1000 genomes]
rs6594657	1.00[AMR][1000 genomes]
rs6594658	1.00[AMR][1000 genomes]
rs6594666	1.00[AMR][1000 genomes]
rs6594667	1.00[AMR][1000 genomes]
rs6594668	1.00[AMR][1000 genomes]
rs6862944	1.00[AMR][1000 genomes]
rs6872473	1.00[AMR][1000 genomes]
rs6881198	0.89[AMR][1000 genomes]
rs6881233	1.00[AMR][1000 genomes]
rs6881426	0.89[AMR][1000 genomes]
rs6881477	1.00[AMR][1000 genomes]
rs6882115	1.00[AMR][1000 genomes]
rs6897972	1.00[AMR][1000 genomes]
rs73220038	0.93[EUR][1000 genomes]
rs73220063	0.86[EUR][1000 genomes]
rs7704566	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7706745	1.00[AMR][1000 genomes]
rs7728495	1.00[AMR][1000 genomes]
rs7728766	0.93[EUR][1000 genomes]
rs7730441	0.86[EUR][1000 genomes]
rs878074	1.00[AMR][1000 genomes]
rs878075	1.00[AMR][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	esv33290	chr5:112110808-112238295	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv529536	chr5:112174106-112269758	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats 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
5	nsv870231	chr5:112192379-112247084	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv1029595	chr5:112197662-112242375	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv1030103	chr5:112197662-112255712	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv537863	chr5:112197662-112255712	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112200600-112242000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:112206400-112242800	Weak transcription	Fetal Brain Male	brain
3	chr5:112209800-112238600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:112210800-112232400	Strong transcription	Primary B cells from peripheral blood	blood
5	chr5:112211200-112240000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr5:112211600-112256400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:112211800-112239200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr5:112212200-112256400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr5:112212600-112251400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr5:112214200-112232200	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr5:112214800-112234800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr5:112215200-112255800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:112215800-112240400	Strong transcription	Primary B cells from cord blood	blood
14	chr5:112215800-112247200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:112219800-112232200	Strong transcription	Fetal Intestine Small	intestine
16	chr5:112221400-112237800	Weak transcription	Small Intestine	intestine
17	chr5:112221800-112231400	Weak transcription	Psoas Muscle	Psoas
18	chr5:112221800-112231800	Weak transcription	Stomach Mucosa	stomach
19	chr5:112221800-112256600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:112222000-112231400	Weak transcription	Hela-S3	cervix
21	chr5:112222000-112233800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr5:112222000-112256400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr5:112222200-112231200	Weak transcription	Colon Smooth Muscle	Colon
24	chr5:112222800-112231600	Weak transcription	Fetal Kidney	kidney
25	chr5:112222800-112239000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr5:112223000-112231200	Weak transcription	Brain Substantia Nigra	brain
27	chr5:112223000-112231200	Weak transcription	HUVEC	blood vessel
28	chr5:112223000-112231400	Weak transcription	HSMMtube	muscle
29	chr5:112223000-112233600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr5:112223000-112233800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr5:112223000-112234200	Weak transcription	Aorta	Aorta
32	chr5:112223000-112234400	Weak transcription	Ovary	ovary
33	chr5:112223000-112235800	Weak transcription	K562	blood
34	chr5:112223000-112240800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:112223000-112243000	Weak transcription	Right Ventricle	heart
36	chr5:112223000-112245200	Weak transcription	Colonic Mucosa	Colon
37	chr5:112223000-112245200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr5:112223000-112256400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr5:112223000-112256600	Weak transcription	Thymus	Thymus
40	chr5:112223200-112231200	Weak transcription	Brain Anterior Caudate	brain
41	chr5:112223200-112231600	Weak transcription	NH-A	brain
42	chr5:112223400-112231600	Weak transcription	HepG2	liver
43	chr5:112223400-112234000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr5:112223600-112235200	Weak transcription	NHDF-Ad	bronchial
45	chr5:112223600-112236800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr5:112224600-112238800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr5:112224800-112231400	Weak transcription	Pancreas	Pancrea
48	chr5:112224800-112233000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr5:112224800-112242400	Weak transcription	Right Atrium	heart
50	chr5:112224800-112250600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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