Variant report

Variant	rs13436719
Chromosome Location	chr5:126874743-126874744
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126851163..126853874-chr5:126873176..126874807,2	K562	blood:
2	chr5:126868067..126870577-chr5:126873388..126876290,2	MCF-7	breast:
3	chr5:126874043..126875799-chr5:126883896..126886572,2	K562	blood:
4	chr5:126873097..126875449-chr5:127418808..127420593,2	K562	blood:

Variant related genes	Relation type
ENSG00000164244	Chromatin interaction
ENSG00000064651	Chromatin interaction
ENSG00000245937	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10043977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10055438	1.00[MEX][hapmap]
rs10063277	1.00[AMR][1000 genomes]
rs10063666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10155548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10155578	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10452551	1.00[AMR][1000 genomes]
rs10478768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13361500	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13436184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13436211	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs28439085	1.00[AMR][1000 genomes]
rs28514390	1.00[AMR][1000 genomes]
rs28535011	1.00[AMR][1000 genomes]
rs58086571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61631930	1.00[AMR][1000 genomes]
rs73331301	1.00[AMR][1000 genomes]
rs73333106	1.00[AMR][1000 genomes]
rs73333162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73335012	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73335024	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73335031	1.00[AMR][1000 genomes]
rs73335039	1.00[AMR][1000 genomes]
rs73335045	1.00[AMR][1000 genomes]
rs73783903	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73786118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9327441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9327442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9327443	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9327444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9327445	1.00[AMR][1000 genomes]
rs9327446	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1019821	chr5:126658200-126934917	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537894	chr5:126658200-126934917	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv830478	chr5:126721368-126937408	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv830479	chr5:126849254-127053121	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126855400-126883200	Weak transcription	Stomach Mucosa	stomach
2	chr5:126856000-126876400	Strong transcription	NH-A	brain
3	chr5:126856200-126876200	Strong transcription	NHDF-Ad	bronchial
4	chr5:126856200-126877000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:126857200-126875800	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:126857200-126876000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:126857600-126876400	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr5:126857600-126876800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:126857600-126877000	Strong transcription	Muscle Satellite Cultured Cells	--
10	chr5:126857800-126875400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:126857800-126875600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:126857800-126876400	Strong transcription	HSMM	muscle
13	chr5:126857800-126876800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:126857800-126877000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:126857800-126877000	Strong transcription	Liver	Liver
16	chr5:126858200-126874800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:126858200-126876600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:126858400-126876400	Strong transcription	Fetal Thymus	thymus
19	chr5:126858600-126875000	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:126858600-126876400	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr5:126858600-126876600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr5:126858600-126877000	Strong transcription	Placenta	Placenta
23	chr5:126858800-126876400	Strong transcription	Osteobl	bone
24	chr5:126859000-126874800	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr5:126859000-126875200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr5:126859000-126876000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr5:126859000-126876400	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr5:126859000-126876600	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr5:126859000-126876800	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr5:126859000-126877000	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr5:126859200-126875800	Strong transcription	HepG2	liver
32	chr5:126859200-126876600	Strong transcription	Duodenum Mucosa	Duodenum
33	chr5:126860600-126874800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:126860600-126876000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr5:126860600-126880000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:126860600-126889400	Weak transcription	Esophagus	oesophagus
37	chr5:126861600-126875400	Strong transcription	GM12878-XiMat	blood
38	chr5:126862200-126876000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:126862400-126876200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:126862800-126876400	Strong transcription	Primary B cells from peripheral blood	blood
41	chr5:126864400-126875600	Strong transcription	Primary B cells from cord blood	blood
42	chr5:126864400-126876400	Strong transcription	HUVEC	blood vessel
43	chr5:126866600-126875400	Strong transcription	HMEC	breast
44	chr5:126868000-126875600	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr5:126868200-126875800	Strong transcription	Fetal Kidney	kidney
46	chr5:126868200-126876000	Strong transcription	Dnd41	blood
47	chr5:126868200-126876600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:126868800-126876600	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr5:126869000-126876400	Strong transcription	Brain Germinal Matrix	brain
50	chr5:126869000-126876800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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