Variant report

Variant	rs6594667
Chromosome Location	chr5:112388706-112388707
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112384021..112386512-chr5:112388336..112390508,4	K562	blood:
2	chr5:112367536..112370083-chr5:112388542..112390283,2	K562	blood:
3	chr5:112388639..112390521-chr5:112391893..112394492,2	MCF-7	breast:
4	chr5:112381725..112385379-chr5:112386016..112389315,3	MCF-7	breast:
5	chr5:112387805..112389786-chr5:112405042..112406689,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12521395	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13185006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17310536	1.00[AMR][1000 genomes]
rs17311019	1.00[AMR][1000 genomes]
rs17311096	1.00[AMR][1000 genomes]
rs17370550	0.89[AMR][1000 genomes]
rs4235775	1.00[EUR][1000 genomes]
rs4235776	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4235780	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4235781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4235782	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4235783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4235784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4235785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4260661	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4276396	1.00[EUR][1000 genomes]
rs4295378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4519915	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4627978	1.00[EUR][1000 genomes]
rs4705534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4705535	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4705536	1.00[EUR][1000 genomes]
rs4705757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4705759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4705760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4705761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4705764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4705765	1.00[EUR][1000 genomes]
rs55901036	1.00[AMR][1000 genomes]
rs55940904	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55997238	0.95[EUR][1000 genomes]
rs56023848	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56265422	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59876839	0.90[AFR][1000 genomes]
rs6594657	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6594658	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6594666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6594668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6862944	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6872473	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6881198	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6881233	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6881426	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6881477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6882115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6896675	0.95[EUR][1000 genomes]
rs6897972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7706745	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7728495	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs878074	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs878075	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv882717	chr5:112336588-112408944	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
3	esv15902	chr5:112369563-112410775	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv599395	chr5:112370311-112428869	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv1817377	chr5:112373682-112389837	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv516887	chr5:112379659-112396174	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112363800-112399000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:112363800-112409200	Weak transcription	Colonic Mucosa	Colon
3	chr5:112363800-112417800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr5:112364000-112389400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr5:112370200-112406600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:112370600-112396600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:112371400-112391400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:112371400-112423800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:112371600-112394200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:112372800-112396800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:112373000-112398800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:112373200-112399000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr5:112375000-112402600	Weak transcription	Pancreas	Pancrea
14	chr5:112377400-112389000	Weak transcription	Primary T cells from cord blood	blood
15	chr5:112379600-112388800	Weak transcription	Gastric	stomach
16	chr5:112379600-112388800	Weak transcription	Spleen	Spleen
17	chr5:112379600-112399600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:112379600-112424200	Weak transcription	Psoas Muscle	Psoas
19	chr5:112379800-112388800	Weak transcription	Brain Substantia Nigra	brain
20	chr5:112383200-112409400	Strong transcription	Liver	Liver
21	chr5:112383400-112395200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr5:112383600-112392000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:112383600-112394200	Weak transcription	Brain Hippocampus Middle	brain
24	chr5:112383800-112389200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:112383800-112393000	Weak transcription	Brain Germinal Matrix	brain
26	chr5:112383800-112394000	Weak transcription	Fetal Thymus	thymus
27	chr5:112384000-112389800	Enhancers	K562	blood
28	chr5:112384000-112393200	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr5:112384000-112453000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr5:112384200-112390200	Weak transcription	Fetal Intestine Large	intestine
31	chr5:112384200-112392600	Weak transcription	Fetal Kidney	kidney
32	chr5:112384200-112393000	Weak transcription	Fetal Brain Male	brain
33	chr5:112384200-112411000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr5:112384600-112398400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr5:112384600-112398800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr5:112384800-112399000	Weak transcription	Aorta	Aorta
37	chr5:112385000-112389200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:112385000-112390400	Weak transcription	Lung	lung
39	chr5:112385600-112388800	Weak transcription	Fetal Lung	lung
40	chr5:112385800-112389000	Enhancers	Right Atrium	heart
41	chr5:112386000-112388800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr5:112386000-112389000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:112386000-112397200	Weak transcription	Fetal Heart	heart
44	chr5:112386400-112390000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:112386400-112394600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr5:112386600-112393000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr5:112386800-112391600	Strong transcription	Fetal Stomach	stomach
48	chr5:112386800-112394400	Weak transcription	Brain Anterior Caudate	brain
49	chr5:112386800-112395200	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr5:112387200-112391400	Strong transcription	Stomach Smooth Muscle	stomach

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