Variant report

Variant	rs76898970
Chromosome Location	chr5:179499314-179499315
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:261)
CpG islands
(count:122)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:261 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr5:179498811-179499345	ECC-1	luminal epithelium:	n/a	n/a
2	TBL1XR1	chr5:179498996-179499410	K562	blood:	n/a	n/a
3	EP300	chr5:179498991-179499334	HepG2	liver:	n/a	n/a
4	MAZ	chr5:179498873-179499355	GM12878	blood:	n/a	n/a
5	ZC3H11A	chr5:179499014-179499468	K562	blood:	n/a	n/a
6	SETDB1	chr5:179499048-179499940	K562	blood:	n/a	chr5:179499921-179499930 chr5:179499923-179499932
7	POLR2A	chr5:179498198-179499395	HepG2	liver:	n/a	n/a
8	E2F6	chr5:179498031-179499904	K562	blood:	n/a	chr5:179499224-179499236 chr5:179499223-179499234 chr5:179498353-179498365 chr5:179498713-179498723 chr5:179499201-179499210
9	TEAD4	chr5:179498919-179499503	ECC-1	luminal epithelium:	n/a	n/a
10	ARID3A	chr5:179498996-179499345	HepG2	liver:	n/a	n/a
11	YY1	chr5:179498943-179499361	A549	lung:	n/a	chr5:179499034-179499045 chr5:179499108-179499119
12	MYC	chr5:179498913-179499381	MCF10A-Er-Src	breast:	n/a	n/a
13	MAX	chr5:179498799-179499594	K562	blood:	n/a	n/a
14	MAX	chr5:179497801-179499844	MCF-7	breast:	n/a	n/a
15	ATF3	chr5:179498875-179499483	A549	lung:	n/a	chr5:179499439-179499452
16	MAX	chr5:179498225-179499520	HUVEC	blood vessel:	n/a	n/a
17	MAX	chr5:179498157-179499509	HepG2	liver:	n/a	n/a
18	TAF7	chr5:179498778-179499397	H1-hESC	embryonic stem cell:	n/a	n/a
19	TCF12	chr5:179499028-179499326	GM12878	blood:	n/a	n/a
20	ZNF263	chr5:179497753-179499348	HEK293-T-REx	kidney:	n/a	n/a
21	GTF2F1	chr5:179498960-179499500	K562	blood:	n/a	n/a
22	TCF7L2	chr5:179499181-179499426	Hela-S3	cervix:	n/a	chr5:179499359-179499369
23	TFAP2A	chr5:179498858-179499468	Hela-S3	cervix:	n/a	chr5:179499117-179499127 chr5:179499117-179499127 chr5:179499115-179499129 chr5:179499117-179499129 chr5:179499117-179499127 chr5:179499174-179499189 chr5:179499115-179499129 chr5:179499117-179499127
24	SIX5	chr5:179498950-179499593	A549	lung:	n/a	n/a
25	GTF2F1	chr5:179499054-179499442	H1-hESC	embryonic stem cell:	n/a	n/a
26	MXI1	chr5:179499076-179499539	H1-hESC	embryonic stem cell:	n/a	n/a
27	FOS	chr5:179499145-179499372	MCF10A-Er-Src	breast:	n/a	chr5:179499228-179499237
28	POLR2A	chr5:179498800-179499343	U87	brain:	n/a	n/a
29	BHLHE40	chr5:179497792-179499588	K562	blood:	n/a	chr5:179499102-179499118 chr5:179499110-179499126 chr5:179499223-179499239 chr5:179498712-179498728 chr5:179498706-179498722
30	REST	chr5:179498912-179499507	A549	lung:	n/a	chr5:179499253-179499266 chr5:179499260-179499278 chr5:179499253-179499266 chr5:179499305-179499318 chr5:179499302-179499315
31	CBX3	chr5:179499030-179499654	K562	blood:	n/a	n/a
32	SIN3AK20	chr5:179498997-179499393	A549	lung:	n/a	n/a
33	POLR2A	chr5:179498794-179499343	U87	brain:	n/a	n/a
34	EP300	chr5:179499281-179499457	K562	blood:	n/a	n/a
35	ELF1	chr5:179498825-179499352	K562	blood:	n/a	n/a
36	GABPA	chr5:179498751-179499478	K562	blood:	n/a	chr5:179499200-179499209 chr5:179499200-179499211
37	GTF2F1	chr5:179499000-179499420	Hela-S3	cervix:	n/a	n/a
38	RCOR1	chr5:179498853-179499357	Hela-S3	cervix:	n/a	n/a
39	HCFC1	chr5:179498251-179499368	K562	blood:	n/a	n/a
40	CEBPB	chr5:179499211-179499360	Hela-S3	cervix:	n/a	n/a
41	MAX	chr5:179498841-179499616	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr5:179498398-179499346	K562	blood:	n/a	n/a
43	ZMIZ1	chr5:179498403-179499403	K562	blood:	n/a	n/a
44	MAX	chr5:179497921-179499736	ECC-1	luminal epithelium:	n/a	n/a
45	MAX	chr5:179498803-179499832	H1-hESC	embryonic stem cell:	n/a	n/a
46	CREB1	chr5:179498378-179499469	HepG2	liver:	n/a	n/a
47	ZBTB33	chr5:179498826-179499467	SK-N-SH	brain:	n/a	chr5:179499225-179499235
48	MYC	chr5:179498845-179499337	MCF-7	breast:	n/a	n/a
49	MYC	chr5:179498542-179499417	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr5:179498273-179499499	MCF-7	breast:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:179499311-179499361	GM12891	blood:	n/a
2	chr5:179499311-179499361	ovcar-3	ovarian:	n/a
3	chr5:179499311-179499361	H1-hESC	embryonic stem cell:	embryo
4	chr5:179499304-179499354	SK-N-SH_RA	brain:	n/a
5	chr5:179499304-179499354	HAEpiC	amniotic membrane:	n/a
6	chr5:179499311-179499361	PFSK-1	brain:	n/a
7	chr5:179499311-179499361	HRE	kidney:	n/a
8	chr5:179499311-179499361	HL-60	blood:	n/a
9	chr5:179499304-179499354	NHDF-neo	bronchial:	n/a
10	chr5:179499311-179499361	HAEpiC	amniotic membrane:	n/a
11	chr5:179499304-179499354	HCF	heart:	n/a
12	chr5:179499304-179499354	AG04450	lung:	fetal
13	chr5:179499311-179499361	HIPEpiC	eye:	n/a
14	chr5:179499311-179499361	LNCaP	prostate:	n/a
15	chr5:179499311-179499361	HUVEC	blood vessel:	n/a
16	chr5:179499311-179499361	U87	brain:	n/a
17	chr5:179499311-179499361	HEEpiC	esophagus:	n/a
18	chr5:179499304-179499354	RPTEC	kidney:	n/a
19	chr5:179499304-179499354	HCM	heart:	n/a
20	chr5:179499311-179499361	AG10803	skin:	n/a
21	chr5:179499311-179499361	IMR90	lung:	fetal
22	chr5:179499304-179499354	A549	lung:	n/a
23	chr5:179499311-179499361	HEK293	kidney:	embryo
24	chr5:179499304-179499354	GM12891	blood:	n/a
25	chr5:179499311-179499361	SKMC	muscle:	n/a
26	chr5:179499304-179499354	AG09319	gingival:	n/a
27	chr5:179499304-179499354	BJ	skin:	n/a
28	chr5:179499304-179499354	NHBE	bronchial:	n/a
29	chr5:179499311-179499361	K562	blood:	n/a
30	chr5:179499304-179499354	MCF10A-Er-Src	breast:	n/a
31	chr5:179499311-179499361	ECC-1	luminal epithelium:	n/a
32	chr5:179499304-179499354	HCPEpiC	choroid plexus:	n/a
33	chr5:179499311-179499361	AG09319	gingival:	n/a
34	chr5:179499304-179499354	GM19239	blood:	n/a
35	chr5:179499304-179499354	HepG2	liver:	n/a
36	chr5:179499304-179499354	AoSMC	blood vessel:	n/a
37	chr5:179499311-179499361	A549	lung:	n/a
38	chr5:179499311-179499361	PANC-1	pancreas:	n/a
39	chr5:179499311-179499361	Hepatocyte	liver:	n/a
40	chr5:179499304-179499354	IMR90	lung:	fetal
41	chr5:179499311-179499361	HCF	heart:	n/a
42	chr5:179499304-179499354	HRCEpiC	kidney:	n/a
43	chr5:179499311-179499361	T-47D	breast:	n/a
44	chr5:179499311-179499361	MCF10A-Er-Src	breast:	n/a
45	chr5:179499311-179499361	HRPEpiC	eye:	n/a
46	chr5:179499311-179499361	AG09309	skin:	n/a
47	chr5:179499304-179499354	PrEC	prostate:	n/a
48	chr5:179499304-179499354	HIPEpiC	eye:	n/a
49	chr5:179499304-179499354	AG10803	skin:	n/a
50	chr5:179499304-179499354	HL-60	blood:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179285802..179287373-chr5:179498927..179500668,2	MCF-7	breast:
2	chr5:179160317..179162813-chr5:179497518..179499972,2	K562	blood:
3	chr5:179233833..179236734-chr5:179497569..179499660,2	MCF-7	breast:
4	chr5:179333483..179336281-chr5:179498634..179500565,2	K562	blood:
5	chr5:179333483..179336002-chr5:179498536..179500364,3	K562	blood:
6	chr5:179404319..179405843-chr5:179497809..179500320,2	K562	blood:
7	chr5:179499106..179500693-chr5:179512372..179515293,2	K562	blood:
8	chr5:179499305..179501402-chr5:179506576..179508838,2	K562	blood:
9	chr5:179285987..179287986-chr5:179498943..179500555,2	K562	blood:
10	chr5:179246093..179248273-chr5:179497691..179500264,2	MCF-7	breast:
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:

No data

Variant related genes	Relation type
RNF130	TF binding region
RNF130	CpG island
ENSG00000161010	Chromatin interaction
ENSG00000253480	Chromatin interaction
ENSG00000197226	Chromatin interaction
ENSG00000245317	Chromatin interaction
ENSG00000161011	Chromatin interaction
ENSG00000161013	Chromatin interaction
ENSG00000161021	Chromatin interaction
ENSG00000113269	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:108 , 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	chr5:179496600-179499400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr5:179496800-179499400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:179496800-179499400	Active TSS	Brain Substantia Nigra	brain
5	chr5:179496800-179499600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:179497000-179499400	Active TSS	Cortex derived primary cultured neurospheres	brain
7	chr5:179497000-179499400	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr5:179497200-179499400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:179497200-179499400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:179497200-179499400	Active TSS	Fetal Brain Female	brain
11	chr5:179497200-179499400	Active TSS	Left Ventricle	heart
12	chr5:179497200-179499400	Active TSS	Right Ventricle	heart
13	chr5:179497200-179499800	Active TSS	Brain Angular Gyrus	brain
14	chr5:179497200-179499800	Active TSS	Brain Anterior Caudate	brain
15	chr5:179497400-179499400	Active TSS	Ovary	ovary
16	chr5:179497400-179499400	Active TSS	Right Atrium	heart
17	chr5:179497600-179499400	Active TSS	Colon Smooth Muscle	Colon
18	chr5:179497600-179499400	Active TSS	HSMM	muscle
19	chr5:179497600-179499600	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr5:179497600-179499600	Active TSS	Fetal Lung	lung
21	chr5:179497600-179499800	Active TSS	Rectal Smooth Muscle	rectum
22	chr5:179497800-179499400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
23	chr5:179497800-179499400	Active TSS	Hela-S3	cervix
24	chr5:179497800-179499800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:179498000-179499400	Active TSS	Primary T cells from cord blood	blood
26	chr5:179498000-179499400	Active TSS	Primary hematopoietic stem cells	blood
27	chr5:179498000-179499400	Active TSS	Duodenum Mucosa	Duodenum
28	chr5:179498000-179499400	Active TSS	Esophagus	oesophagus
29	chr5:179498000-179499400	Active TSS	Fetal Kidney	kidney
30	chr5:179498000-179499400	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr5:179498000-179499800	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr5:179498200-179499400	Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr5:179498200-179499400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr5:179498200-179499400	Active TSS	Stomach Smooth Muscle	stomach
35	chr5:179498200-179499400	Active TSS	Osteobl	bone
36	chr5:179498400-179499400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:179498400-179499400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:179498400-179499400	Active TSS	Rectal Mucosa Donor 31	rectum
39	chr5:179498400-179499400	Active TSS	GM12878-XiMat	blood
40	chr5:179498400-179499600	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr5:179498400-179499600	Active TSS	NH-A	brain
42	chr5:179498600-179499600	Active TSS	Colonic Mucosa	Colon
43	chr5:179499000-179499400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:179499000-179499800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr5:179499200-179499400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr5:179499200-179499400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:179499200-179499400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
48	chr5:179499200-179499400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr5:179499200-179499400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr5:179499200-179499400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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