Variant report

Variant	rs6886491
Chromosome Location	chr5:112388974-112388975
allele	C/T
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:
6	chr5:112378867..112380762-chr5:112388761..112390439,2	K562	blood:
7	chr5:112377774..112380762-chr5:112388761..112390824,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10477487	1.00[CEU][hapmap]
rs35555142	0.83[EUR][1000 genomes]
rs3756600	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs4259163	1.00[CEU][hapmap]
rs60681208	0.83[EUR][1000 genomes]
rs62373350	0.83[EUR][1000 genomes]
rs62373352	0.83[EUR][1000 genomes]
rs62374676	0.83[EUR][1000 genomes]
rs62374682	0.83[EUR][1000 genomes]
rs62374707	0.83[EUR][1000 genomes]
rs6594664	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6894948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7718513	1.00[CEU][hapmap]

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	chr5:112379600-112399600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr5:112379600-112424200	Weak transcription	Psoas Muscle	Psoas
17	chr5:112383200-112409400	Strong transcription	Liver	Liver
18	chr5:112383400-112395200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr5:112383600-112392000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr5:112383600-112394200	Weak transcription	Brain Hippocampus Middle	brain
21	chr5:112383800-112389200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:112383800-112393000	Weak transcription	Brain Germinal Matrix	brain
23	chr5:112383800-112394000	Weak transcription	Fetal Thymus	thymus
24	chr5:112384000-112389800	Enhancers	K562	blood
25	chr5:112384000-112393200	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr5:112384000-112453000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr5:112384200-112390200	Weak transcription	Fetal Intestine Large	intestine
28	chr5:112384200-112392600	Weak transcription	Fetal Kidney	kidney
29	chr5:112384200-112393000	Weak transcription	Fetal Brain Male	brain
30	chr5:112384200-112411000	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr5:112384600-112398400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr5:112384600-112398800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr5:112384800-112399000	Weak transcription	Aorta	Aorta
34	chr5:112385000-112389200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:112385000-112390400	Weak transcription	Lung	lung
36	chr5:112385800-112389000	Enhancers	Right Atrium	heart
37	chr5:112386000-112389000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:112386000-112397200	Weak transcription	Fetal Heart	heart
39	chr5:112386400-112390000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:112386400-112394600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr5:112386600-112393000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr5:112386800-112391600	Strong transcription	Fetal Stomach	stomach
43	chr5:112386800-112394400	Weak transcription	Brain Anterior Caudate	brain
44	chr5:112386800-112395200	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr5:112387200-112391400	Strong transcription	Stomach Smooth Muscle	stomach
46	chr5:112387200-112394400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr5:112387200-112395000	Weak transcription	Brain Angular Gyrus	brain
48	chr5:112387400-112389000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr5:112387400-112394000	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr5:112387600-112390000	Enhancers	Osteobl	bone

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