Variant report

Variant	rs2547483
Chromosome Location	chr5:79703255-79703256
allele	C/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	MXI1	chr5:79702723-79704576	HepG2	liver:	n/a	n/a
2	UBTF	chr5:79703192-79704740	K562	blood:	n/a	n/a
3	POLR2A	chr5:79703007-79704198	GM12878	blood:	n/a	n/a
4	GATA3	chr5:79703111-79703380	T-47D	breast:	n/a	chr5:79703182-79703189 chr5:79703174-79703186 chr5:79703290-79703297
5	RFX5	chr5:79703119-79704717	Hela-S3	cervix:	n/a	n/a
6	GABPA	chr5:79703241-79704004	MCF-7	breast:	n/a	chr5:79703510-79703524 chr5:79703817-79703831 chr5:79703739-79703753 chr5:79703820-79703834 chr5:79703742-79703751 chr5:79703820-79703831 chr5:79703513-79703527 chr5:79703742-79703753
7	RCOR1	chr5:79703160-79704538	Hela-S3	cervix:	n/a	n/a
8	ELF1	chr5:79703247-79704095	MCF-7	breast:	n/a	chr5:79703694-79703703 chr5:79703692-79703705 chr5:79703693-79703704 chr5:79703693-79703704 chr5:79703471-79703480
9	POLR2A	chr5:79703202-79704465	GM12878	blood:	n/a	n/a
10	BHLHE40	chr5:79703172-79704648	K562	blood:	n/a	chr5:79704245-79704261 chr5:79704124-79704140
11	POLR2A	chr5:79703172-79704507	GM18526	blood:	n/a	n/a
12	POLR2A	chr5:79702707-79704564	HepG2	liver:	n/a	n/a
13	POLR2A	chr5:79703111-79704520	MCF-7	breast:	n/a	n/a
14	CHD1	chr5:79703149-79704099	GM12878	blood:	n/a	chr5:79704032-79704042
15	POLR2A	chr5:79702988-79704475	K562	blood:	n/a	n/a
16	POLR2A	chr5:79703175-79704548	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr5:79702811-79704530	MCF-7	breast:	n/a	n/a
18	POLR2A	chr5:79703097-79704497	K562	blood:	n/a	n/a
19	POLR2A	chr5:79703119-79704532	K562	blood:	n/a	n/a
20	MAX	chr5:79702770-79704417	HepG2	liver:	n/a	chr5:79703781-79703791
21	EGR1	chr5:79703154-79703982	K562	blood:	n/a	chr5:79703781-79703796 chr5:79703821-79703830 chr5:79703693-79703702 chr5:79703743-79703752
22	POLR2A	chr5:79702953-79704275	HUVEC	blood vessel:	n/a	n/a
23	HEY1	chr5:79702667-79704536	HepG2	liver:	n/a	chr5:79704343-79704358 chr5:79704318-79704333
24	TAF1	chr5:79703228-79704041	K562	blood:	n/a	n/a
25	MAZ	chr5:79702910-79704647	IMR90	lung:	n/a	chr5:79703781-79703791
26	MYC	chr5:79703175-79704593	K562	blood:	n/a	chr5:79703781-79703791
27	POLR2A	chr5:79703158-79704468	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr5:79703012-79704387	SK-N-SH	brain:	n/a	n/a
29	MTA3	chr5:79702958-79703885	GM12878	blood:	n/a	n/a
30	SIN3AK20	chr5:79703213-79703725	HepG2	liver:	n/a	n/a
31	POLR2A	chr5:79702696-79704071	HepG2	liver:	n/a	n/a
32	POLR2A	chr5:79702771-79704501	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr5:79703228-79704600	ProgFib	skin:	n/a	n/a
34	MAZ	chr5:79703205-79704608	GM12878	blood:	n/a	chr5:79703781-79703791
35	POLR2A	chr5:79703255-79704626	Hela-S3	cervix:	n/a	n/a
36	SIN3A	chr5:79703129-79704719	H1-hESC	embryonic stem cell:	n/a	chr5:79704134-79704147
37	POLR2A	chr5:79702977-79704109	K562	blood:	n/a	n/a
38	SETDB1	chr5:79702894-79703284	U2OS	brain:	n/a	n/a
39	MAFK	chr5:79703136-79703731	HepG2	liver:	n/a	n/a
40	POLR2A	chr5:79703179-79704670	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr5:79703251-79704420	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr5:79703164-79704581	U87	brain:	n/a	n/a
43	POLR2A	chr5:79702815-79704567	IMR90	lung:	n/a	n/a
44	FOXP2	chr5:79703205-79704070	PFSK-1	brain:	n/a	n/a
45	ARID3A	chr5:79702764-79704542	HepG2	liver:	n/a	n/a
46	POLR2A	chr5:79703109-79704706	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr5:79703242-79704144	ECC-1	luminal epithelium:	n/a	n/a
48	POLR2A	chr5:79702918-79704461	GM12892	blood:	n/a	n/a
49	ELF1	chr5:79703203-79704063	SK-N-SH	brain:	n/a	chr5:79703694-79703703 chr5:79703692-79703705 chr5:79703693-79703704 chr5:79703693-79703704 chr5:79703471-79703480
50	EGR1	chr5:79703227-79703956	K562	blood:	n/a	chr5:79703781-79703796 chr5:79703821-79703830 chr5:79703693-79703702 chr5:79703743-79703752

No.	Distal block	Cell Line	Cell type
1	chr5:79691909..79693908-chr5:79702034..79703785,2	MCF-7	breast:
2	chr2:85804413..85805189-chr5:79703085..79703712,2	Hela-S3	cervix:
3	chr17:39834521..39835466-chr5:79703117..79703745,2	Hela-S3	cervix:
4	chr2:43453490..43454408-chr5:79703158..79703991,2	Hela-S3	cervix:
5	chr5:79694018..79695713-chr5:79701443..79703273,2	MCF-7	breast:
6	chr5:79702243..79704187-chr6:26156488..26158123,2	MCF-7	breast:
7	chr16:31492241..31494807-chr5:79702904..79705274,2	MCF-7	breast:
8	chr5:79702114..79706204-chr5:79947823..79953616,8	MCF-7	breast:
9	chr5:79550504..79553635-chr5:79702210..79704282,3	K562	blood:

Variant related genes	Relation type
ZFYVE16	TF binding region
ENSG00000168298	Chromatin interaction
ENSG00000228716	Chromatin interaction
ENSG00000118640	Chromatin interaction
ENSG00000140675	Chromatin interaction
ENSG00000152518	Chromatin interaction
ENSG00000113318	Chromatin interaction
ENSG00000164300	Chromatin interaction

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

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

rs_ID	r²[population]
rs259044	0.85[AFR][1000 genomes]
rs259045	0.85[AFR][1000 genomes]
rs259046	0.85[AFR][1000 genomes]
rs259047	0.83[AFR][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	nsv948807	chr5:79549207-79805765	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv518480	chr5:79586085-79748382	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1028027	chr5:79694699-79841752	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 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	chr5:79702600-79703600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr5:79702600-79704600	Active TSS	Colonic Mucosa	Colon
3	chr5:79702600-79705400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:79702600-79705400	Active TSS	Brain Anterior Caudate	brain
5	chr5:79702600-79705400	Active TSS	HSMMtube	muscle
6	chr5:79702600-79706000	Active TSS	Fetal Kidney	kidney
7	chr5:79702600-79706000	Active TSS	NHLF	lung
8	chr5:79702800-79703400	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr5:79702800-79703400	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr5:79702800-79703400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr5:79702800-79704000	Active TSS	HepG2	liver
12	chr5:79702800-79704400	Active TSS	Primary T cells from cord blood	blood
13	chr5:79702800-79704600	Active TSS	Adipose Nuclei	Adipose
14	chr5:79702800-79704600	Active TSS	Liver	Liver
15	chr5:79702800-79704600	Active TSS	Left Ventricle	heart
16	chr5:79702800-79704600	Active TSS	Lung	lung
17	chr5:79702800-79704800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:79702800-79704800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:79702800-79704800	Active TSS	Thymus	Thymus
20	chr5:79702800-79705000	Active TSS	Fetal Intestine Large	intestine
21	chr5:79702800-79705200	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr5:79702800-79705400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:79702800-79705400	Active TSS	Brain Cingulate Gyrus	brain
24	chr5:79702800-79705400	Active TSS	Hela-S3	cervix
25	chr5:79702800-79705400	Active TSS	HSMM	muscle
26	chr5:79702800-79705600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:79702800-79705600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:79702800-79705600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:79702800-79705800	Active TSS	Brain Angular Gyrus	brain
30	chr5:79702800-79705800	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr5:79702800-79705800	Active TSS	Fetal Stomach	stomach
32	chr5:79702800-79706000	Active TSS	Psoas Muscle	Psoas
33	chr5:79702800-79706000	Active TSS	Right Ventricle	heart
34	chr5:79702800-79706200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:79702800-79706200	Active TSS	Ovary	ovary
36	chr5:79702800-79706400	Active TSS	Right Atrium	heart
37	chr5:79702800-79706800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr5:79703000-79703400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr5:79703000-79703400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:79703000-79703400	Flanking Active TSS	Fetal Brain Male	brain
41	chr5:79703000-79703400	Flanking Active TSS	Fetal Thymus	thymus
42	chr5:79703000-79703600	Active TSS	Fetal Heart	heart
43	chr5:79703000-79703800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr5:79703000-79704000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr5:79703000-79704600	Active TSS	Esophagus	oesophagus
46	chr5:79703000-79704600	Active TSS	Pancreas	Pancrea
47	chr5:79703000-79704600	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr5:79703000-79704600	Active TSS	Small Intestine	intestine
49	chr5:79703000-79704800	Active TSS	H9 Cell Line	embryonic stem cell
50	chr5:79703000-79704800	Active TSS	HUES64 Cell Line	embryonic stem cell

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