Variant report

Variant	rs72813746
Chromosome Location	chr5:179297268-179297269
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:179297160-179297310	HMF	breast:	n/a	n/a
2	POLR2A	chr5:179296715-179297334	K562	blood:	n/a	n/a
3	POLR2A	chr5:179297183-179297635	GM12892	blood:	n/a	n/a
4	CTCF	chr5:179297140-179297290	HCPEpiC	choroid plexus:	n/a	n/a
5	CTCF	chr5:179296914-179298252	SK-N-SH	brain:	n/a	chr5:179297718-179297736 chr5:179297721-179297734
6	RAD21	chr5:179297051-179297297	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr5:179297120-179297270	AG09319	gingival:	n/a	n/a
8	RAD21	chr5:179296876-179297379	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr5:179297258-179297935	K562	blood:	n/a	n/a
10	POLR2A	chr5:179297067-179297559	HepG2	liver:	n/a	n/a
11	POLR2A	chr5:179297146-179297915	SK-N-MC	brain:	n/a	n/a
12	CTCF	chr5:179297240-179297390	HVMF	connective:	n/a	n/a
13	POLR2A	chr5:179296500-179297864	K562	blood:	n/a	n/a
14	CTCF	chr5:179297120-179297270	SK-N-SH_RA	brain:	n/a	n/a
15	POLR2A	chr5:179297219-179297733	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179287101..179289302-chr5:179295168..179298855,3	K562	blood:
2	chr5:179297068..179300274-chr5:179333410..179335141,3	MCF-7	breast:
3	chr5:179288966..179290772-chr5:179295721..179297520,3	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C5orf45-1	chr5:179297255-179297408	NONHSAT105652

No data

Variant related genes	Relation type
TBC1D9B	TF binding region
ENSG00000161010	Chromatin interaction
ENSG00000197226	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17079730	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs567750	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61739270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72813759	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
4	nsv469579	chr5:179184831-179360191	Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
5	nsv883274	chr5:179186397-179310330	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv883276	chr5:179193598-179310330	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
7	nsv883277	chr5:179193598-179350387	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
8	nsv1030437	chr5:179235423-179649944	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
9	nsv537982	chr5:179235423-179649944	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
10	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
11	nsv883286	chr5:179290845-179313656	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr5:179286200-179310600	Weak transcription	Stomach Mucosa	stomach
2	chr5:179286400-179303000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr5:179286600-179310600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr5:179286600-179310800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr5:179286600-179311400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr5:179287200-179333600	Weak transcription	Right Atrium	heart
7	chr5:179287800-179302200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr5:179287800-179310000	Weak transcription	Fetal Brain Male	brain
9	chr5:179288400-179308400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:179288400-179308400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:179288400-179310600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:179289000-179300400	Strong transcription	Osteobl	bone
13	chr5:179289000-179306800	Strong transcription	Placenta Amnion	Placenta Amnion
14	chr5:179289000-179307000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:179289000-179308800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:179289000-179309200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:179289200-179297600	Strong transcription	Skeletal Muscle Female	skeletal muscle
18	chr5:179289200-179297800	Strong transcription	Skeletal Muscle Male	skeletal muscle
19	chr5:179289200-179303400	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr5:179289200-179303800	Strong transcription	Pancreas	Pancrea
21	chr5:179289200-179305000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:179289200-179307000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:179289200-179307800	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr5:179289200-179308600	Strong transcription	Liver	Liver
25	chr5:179289200-179308600	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr5:179289200-179308800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr5:179289200-179309200	Strong transcription	Fetal Brain Female	brain
28	chr5:179289400-179297800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr5:179289400-179306800	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr5:179289400-179307400	Strong transcription	Primary T cells from cord blood	blood
31	chr5:179289400-179307600	Strong transcription	Primary B cells from peripheral blood	blood
32	chr5:179289400-179308200	Strong transcription	Dnd41	blood
33	chr5:179289400-179308400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr5:179289400-179308400	Strong transcription	Ovary	ovary
35	chr5:179289400-179308400	Strong transcription	Stomach Smooth Muscle	stomach
36	chr5:179289400-179308400	Strong transcription	Thymus	Thymus
37	chr5:179289400-179309400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:179289600-179303000	Strong transcription	Colonic Mucosa	Colon
39	chr5:179289600-179308800	Strong transcription	Brain Germinal Matrix	brain
40	chr5:179289600-179328000	Strong transcription	Adipose Nuclei	Adipose
41	chr5:179289800-179301000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:179289800-179303800	Strong transcription	NHLF	lung
43	chr5:179289800-179306800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr5:179289800-179308400	Strong transcription	Lung	lung
45	chr5:179290200-179297800	Weak transcription	K562	blood
46	chr5:179290200-179299400	Strong transcription	Gastric	stomach
47	chr5:179290200-179300400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr5:179290200-179307800	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr5:179290200-179308600	Strong transcription	Fetal Intestine Small	intestine
50	chr5:179290400-179299400	Strong transcription	Fetal Stomach	stomach

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