Variant report

Variant	rs577037147
Chromosome Location	chr5:179498766-179498767
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	POLR2A	chr5:179498198-179499395	HepG2	liver:	n/a	n/a
2	E2F6	chr5:179498031-179499904	K562	blood:	n/a	chr5:179499224-179499236 chr5:179499223-179499234 chr5:179498353-179498365 chr5:179498713-179498723 chr5:179499201-179499210
3	POLR2A	chr5:179498532-179498775	U87	brain:	n/a	n/a
4	E2F6	chr5:179498038-179498800	H1-hESC	embryonic stem cell:	n/a	chr5:179498353-179498365 chr5:179498713-179498723
5	MAX	chr5:179497801-179499844	MCF-7	breast:	n/a	n/a
6	MAX	chr5:179498225-179499520	HUVEC	blood vessel:	n/a	n/a
7	MAX	chr5:179498157-179499509	HepG2	liver:	n/a	n/a
8	POLR2A	chr5:179498516-179499284	A549	lung:	n/a	n/a
9	POLR2A	chr5:179498669-179499245	HUVEC	blood vessel:	n/a	n/a
10	ZNF263	chr5:179497753-179499348	HEK293-T-REx	kidney:	n/a	n/a
11	BHLHE40	chr5:179497792-179499588	K562	blood:	n/a	chr5:179499102-179499118 chr5:179499110-179499126 chr5:179499223-179499239 chr5:179498712-179498728 chr5:179498706-179498722
12	POLR2A	chr5:179498766-179499272	H1-hESC	embryonic stem cell:	n/a	n/a
13	FOXP2	chr5:179498732-179499297	PFSK-1	brain:	n/a	n/a
14	GABPA	chr5:179498751-179499478	K562	blood:	n/a	chr5:179499200-179499209 chr5:179499200-179499211
15	TAF1	chr5:179498401-179499268	H1-hESC	embryonic stem cell:	n/a	n/a
16	HEY1	chr5:179498504-179498783	K562	blood:	n/a	n/a
17	HCFC1	chr5:179498251-179499368	K562	blood:	n/a	n/a
18	POLR2A	chr5:179497996-179499279	IMR90	lung:	n/a	n/a
19	POLR2A	chr5:179498398-179499346	K562	blood:	n/a	n/a
20	POLR2A	chr5:179498298-179499304	A549	lung:	n/a	n/a
21	ZMIZ1	chr5:179498403-179499403	K562	blood:	n/a	n/a
22	MAX	chr5:179497921-179499736	ECC-1	luminal epithelium:	n/a	n/a
23	CREB1	chr5:179498378-179499469	HepG2	liver:	n/a	n/a
24	MYC	chr5:179498542-179499417	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr5:179498273-179499499	MCF-7	breast:	n/a	n/a
26	UBTF	chr5:179497923-179499341	K562	blood:	n/a	n/a
27	POLR2A	chr5:179498450-179499298	HepG2	liver:	n/a	n/a
28	MAX	chr5:179497912-179499842	K562	blood:	n/a	n/a
29	SIN3A	chr5:179497751-179499381	H1-hESC	embryonic stem cell:	n/a	chr5:179499268-179499277 chr5:179498741-179498754 chr5:179499256-179499269
30	POLR2A	chr5:179498459-179499280	K562	blood:	n/a	n/a
31	MYC	chr5:179497764-179499915	A549	lung:	n/a	chr5:179499900-179499910
32	MYC	chr5:179498552-179499446	K562	blood:	n/a	n/a
33	POLR2A	chr5:179498418-179499341	HEK293	kidney:	n/a	n/a
34	POLR2A	chr5:179497795-179499455	H1-neurons	neurons:	n/a	n/a
35	E2F6	chr5:179498035-179499942	A549	lung:	n/a	chr5:179499224-179499236 chr5:179499223-179499234 chr5:179498353-179498365 chr5:179498713-179498723 chr5:179499201-179499210
36	POLR2A	chr5:179497930-179499458	HL-60	blood:	n/a	n/a
37	GATA3	chr5:179498670-179499671	A549	lung:	n/a	n/a
38	POLR2A	chr5:179498443-179499387	A549	lung:	n/a	n/a
39	SMARCB1	chr5:179498173-179499287	Hela-S3	cervix:	n/a	n/a
40	MAX	chr5:179498031-179499671	HepG2	liver:	n/a	n/a
41	MAX	chr5:179498156-179499611	K562	blood:	n/a	n/a
42	MXI1	chr5:179498389-179499365	HepG2	liver:	n/a	n/a
43	BHLHE40	chr5:179498532-179499317	A549	lung:	n/a	chr5:179499102-179499118 chr5:179499110-179499126 chr5:179499223-179499239 chr5:179498712-179498728 chr5:179498706-179498722
44	TAF1	chr5:179498419-179499284	H1-hESC	embryonic stem cell:	n/a	n/a
45	MAZ	chr5:179497973-179499446	K562	blood:	n/a	n/a
46	POLR2A	chr5:179498496-179499404	NB4	blood:	n/a	n/a
47	MAX	chr5:179497917-179499691	SK-N-SH	brain:	n/a	n/a
48	TCF7L2	chr5:179498157-179499312	HCT-116	colon:	n/a	n/a
49	TAF1	chr5:179498584-179499331	H1-neurons	neurons:	n/a	n/a
50	MYC	chr5:179497930-179499460	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:179498374..179498987-chr6:8102687..8103214,2	Hela-S3	cervix:
2	chr5:179160317..179162813-chr5:179497518..179499972,2	K562	blood:
3	chr5:154133591..154135701-chr5:179497285..179498805,3	MCF-7	breast:
4	chr5:179233833..179236734-chr5:179497569..179499660,2	MCF-7	breast:
5	chr5:179333483..179336281-chr5:179498634..179500565,2	K562	blood:
6	chr5:179333483..179336002-chr5:179498536..179500364,3	K562	blood:
7	chr5:179404319..179405843-chr5:179497809..179500320,2	K562	blood:
8	chr5:179496103..179499035-chr5:179510851..179514542,4	K562	blood:
9	chr5:179246093..179248273-chr5:179497691..179500264,2	MCF-7	breast:
10	chr5:154134362..154135956-chr5:179498285..179499281,4	HCT-116	colon:
11	chr5:179332761..179336643-chr5:179497180..179500753,5	MCF-7	breast:
12	chr5:179285948..179288985-chr5:179497401..179500729,4	K562	blood:
13	chr5:179232651..179234632-chr5:179498072..179500275,2	MCF-7	breast:

Variant related genes	Relation type
RNF130	TF binding region
ENSG00000253480	Chromatin interaction
ENSG00000161013	Chromatin interaction
ENSG00000155506	Chromatin interaction
ENSG00000245317	Chromatin interaction
ENSG00000161021	Chromatin interaction
ENSG00000265818	Chromatin interaction
ENSG00000197226	Chromatin interaction
ENSG00000113269	Chromatin interaction
ENSG00000124802	Chromatin interaction
ENSG00000161011	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv830561	chr5:179365637-179537012	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
6	nsv1033706	chr5:179402769-179806356	Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
7	nsv1024592	chr5:179443133-179510642	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	esv3396669	chr5:179497796-179500194	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
9	esv3340100	chr5:179497871-179500719	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179495400-179499400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:179495600-179499200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr5:179495800-179499000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr5:179495800-179499200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:179496600-179499200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:179496600-179499200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:179496600-179499400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr5:179496800-179499200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:179496800-179499400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:179496800-179499400	Active TSS	Brain Substantia Nigra	brain
11	chr5:179496800-179499600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:179497000-179499200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:179497000-179499200	Active TSS	Brain Cingulate Gyrus	brain
14	chr5:179497000-179499200	Active TSS	Fetal Muscle Trunk	muscle
15	chr5:179497000-179499400	Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr5:179497000-179499400	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr5:179497200-179499200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr5:179497200-179499200	Active TSS	H9 Cell Line	embryonic stem cell
19	chr5:179497200-179499200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr5:179497200-179499200	Active TSS	Brain Hippocampus Middle	brain
21	chr5:179497200-179499200	Bivalent/Poised TSS	Thymus	Thymus
22	chr5:179497200-179499400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:179497200-179499400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:179497200-179499400	Active TSS	Fetal Brain Female	brain
25	chr5:179497200-179499400	Active TSS	Left Ventricle	heart
26	chr5:179497200-179499400	Active TSS	Right Ventricle	heart
27	chr5:179497200-179499800	Active TSS	Brain Angular Gyrus	brain
28	chr5:179497200-179499800	Active TSS	Brain Anterior Caudate	brain
29	chr5:179497400-179499200	Active TSS	Primary monocytes fromperipheralblood	blood
30	chr5:179497400-179499200	Active TSS	Gastric	stomach
31	chr5:179497400-179499200	Active TSS	Pancreas	Pancrea
32	chr5:179497400-179499200	Active TSS	Psoas Muscle	Psoas
33	chr5:179497400-179499200	Active TSS	Stomach Mucosa	stomach
34	chr5:179497400-179499200	Active TSS	HSMMtube	muscle
35	chr5:179497400-179499400	Active TSS	Ovary	ovary
36	chr5:179497400-179499400	Active TSS	Right Atrium	heart
37	chr5:179497600-179499000	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr5:179497600-179499200	Active TSS	H1 Cell Line	embryonic stem cell
39	chr5:179497600-179499200	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr5:179497600-179499200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
41	chr5:179497600-179499200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr5:179497600-179499200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:179497600-179499200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr5:179497600-179499200	Active TSS	NHDF-Ad	bronchial
45	chr5:179497600-179499200	Active TSS	NHLF	lung
46	chr5:179497600-179499400	Active TSS	Colon Smooth Muscle	Colon
47	chr5:179497600-179499400	Active TSS	HSMM	muscle
48	chr5:179497600-179499600	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr5:179497600-179499600	Active TSS	Fetal Lung	lung
50	chr5:179497600-179499800	Active TSS	Rectal Smooth Muscle	rectum

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