Variant report

Variant	rs10513178
Chromosome Location	chr5:14414398-14414399
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr5:14414303-14416683	GM12878	blood:	n/a	n/a
2	POLR2A	chr5:14414128-14414700	PANC-1	pancreas:	n/a	n/a
3	MTA3	chr5:14414368-14416321	GM12878	blood:	n/a	n/a
4	POLR2A	chr5:14412830-14415455	U87	brain:	n/a	n/a
5	POLR2A	chr5:14412831-14414579	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:14407920..14412107-chr5:14413885..14416299,3	MCF-7	breast:
2	chr5:14414154..14415696-chr5:14664055..14665820,2	MCF-7	breast:
3	chr5:14413016..14415432-chr5:14426499..14428119,2	MCF-7	breast:

Variant related genes	Relation type
TRIO	TF binding region
ENSG00000154124	Chromatin interaction
ENSG00000261360	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16903495	0.84[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16903496	0.81[YRI][hapmap];1.00[AMR][1000 genomes]
rs57084817	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57233387	0.95[AFR][1000 genomes];1.00[AMR][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	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv830210	chr5:14255039-14431552	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14357600-14422000	Weak transcription	Stomach Mucosa	stomach
2	chr5:14363800-14430600	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr5:14363800-14430600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr5:14392400-14426800	Weak transcription	Psoas Muscle	Psoas
5	chr5:14399000-14419800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:14399600-14416400	Strong transcription	Duodenum Mucosa	Duodenum
7	chr5:14400600-14415000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:14400800-14416000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:14404000-14420600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:14404400-14415000	Strong transcription	Primary B cells from peripheral blood	blood
11	chr5:14404400-14428600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:14404600-14414800	Strong transcription	Brain Germinal Matrix	brain
13	chr5:14404600-14427600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:14404800-14416200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr5:14404800-14417200	Strong transcription	HSMMtube	muscle
16	chr5:14404800-14424000	Strong transcription	Liver	Liver
17	chr5:14405200-14415600	Strong transcription	Skeletal Muscle Female	skeletal muscle
18	chr5:14405200-14423600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr5:14405400-14416000	Strong transcription	Lung	lung
20	chr5:14405400-14423400	Strong transcription	Placenta	Placenta
21	chr5:14406200-14416200	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr5:14406400-14416200	Strong transcription	Hela-S3	cervix
23	chr5:14406600-14414400	Strong transcription	NHLF	lung
24	chr5:14406800-14420000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:14406800-14421600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:14407000-14416800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr5:14407000-14417000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr5:14407200-14416400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:14407200-14418800	Strong transcription	NHEK	skin
30	chr5:14407600-14414400	Weak transcription	Fetal Brain Male	brain
31	chr5:14407600-14417000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr5:14407800-14414600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:14407800-14415800	Strong transcription	Adipose Nuclei	Adipose
34	chr5:14407800-14418000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:14407800-14419800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr5:14409000-14415600	Genic enhancers	Fetal Muscle Trunk	muscle
37	chr5:14409000-14416200	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr5:14409200-14416800	Strong transcription	A549	lung
39	chr5:14409400-14415800	Strong transcription	HepG2	liver
40	chr5:14409800-14415800	Strong transcription	Stomach Smooth Muscle	stomach
41	chr5:14410000-14414600	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr5:14410000-14416000	Strong transcription	Left Ventricle	heart
43	chr5:14410200-14416400	Strong transcription	HMEC	breast
44	chr5:14410400-14415400	Weak transcription	Esophagus	oesophagus
45	chr5:14410600-14415200	Weak transcription	Brain Angular Gyrus	brain
46	chr5:14410600-14415800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr5:14410600-14428000	Weak transcription	Fetal Heart	heart
48	chr5:14410800-14415600	Strong transcription	Placenta Amnion	Placenta Amnion
49	chr5:14411000-14428200	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr5:14411200-14423600	Strong transcription	Fetal Intestine Large	intestine

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