Variant report

Variant	rs555078621
Chromosome Location	chr5:179499141-179499142
allele	-/CCCCGCCC
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:328)
CpG islands
(count:61)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:328 , 50 per page) page: 1 2 3 4 5 6 7

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	MXI1	chr5:179499062-179499290	K562	blood:	n/a	n/a
3	TBL1XR1	chr5:179498996-179499410	K562	blood:	n/a	n/a
4	EP300	chr5:179498991-179499334	HepG2	liver:	n/a	n/a
5	TBP	chr5:179498968-179499275	HepG2	liver:	n/a	n/a
6	MAZ	chr5:179498873-179499355	GM12878	blood:	n/a	n/a
7	ZC3H11A	chr5:179499014-179499468	K562	blood:	n/a	n/a
8	SETDB1	chr5:179499048-179499940	K562	blood:	n/a	chr5:179499921-179499930 chr5:179499923-179499932
9	POLR2A	chr5:179498198-179499395	HepG2	liver:	n/a	n/a
10	NR3C1	chr5:179498794-179499238	A549	lung:	n/a	chr5:179499088-179499102 chr5:179499087-179499103 chr5:179499087-179499103
11	E2F6	chr5:179498031-179499904	K562	blood:	n/a	chr5:179499224-179499236 chr5:179499223-179499234 chr5:179498353-179498365 chr5:179498713-179498723 chr5:179499201-179499210
12	TEAD4	chr5:179498919-179499503	ECC-1	luminal epithelium:	n/a	n/a
13	ARID3A	chr5:179498996-179499345	HepG2	liver:	n/a	n/a
14	YY1	chr5:179498943-179499361	A549	lung:	n/a	chr5:179499034-179499045 chr5:179499108-179499119
15	MYC	chr5:179498913-179499381	MCF10A-Er-Src	breast:	n/a	n/a
16	MAX	chr5:179498799-179499594	K562	blood:	n/a	n/a
17	MAX	chr5:179497801-179499844	MCF-7	breast:	n/a	n/a
18	ATF3	chr5:179498875-179499483	A549	lung:	n/a	chr5:179499439-179499452
19	MAX	chr5:179498225-179499520	HUVEC	blood vessel:	n/a	n/a
20	MAX	chr5:179498157-179499509	HepG2	liver:	n/a	n/a
21	TAF7	chr5:179498778-179499397	H1-hESC	embryonic stem cell:	n/a	n/a
22	TCF12	chr5:179499028-179499326	GM12878	blood:	n/a	n/a
23	POLR2A	chr5:179498516-179499284	A549	lung:	n/a	n/a
24	POLR2A	chr5:179498669-179499245	HUVEC	blood vessel:	n/a	n/a
25	ZNF263	chr5:179497753-179499348	HEK293-T-REx	kidney:	n/a	n/a
26	GTF2F1	chr5:179498960-179499500	K562	blood:	n/a	n/a
27	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
28	SIX5	chr5:179498950-179499593	A549	lung:	n/a	n/a
29	GTF2F1	chr5:179499054-179499442	H1-hESC	embryonic stem cell:	n/a	n/a
30	ZBTB7A	chr5:179498796-179499242	K562	blood:	n/a	n/a
31	MXI1	chr5:179499076-179499539	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr5:179498800-179499343	U87	brain:	n/a	n/a
33	BHLHE40	chr5:179497792-179499588	K562	blood:	n/a	chr5:179499102-179499118 chr5:179499110-179499126 chr5:179499223-179499239 chr5:179498712-179498728 chr5:179498706-179498722
34	POLR2A	chr5:179498766-179499272	H1-hESC	embryonic stem cell:	n/a	n/a
35	REST	chr5:179498912-179499507	A549	lung:	n/a	chr5:179499253-179499266 chr5:179499260-179499278 chr5:179499253-179499266 chr5:179499305-179499318 chr5:179499302-179499315
36	FOXP2	chr5:179498732-179499297	PFSK-1	brain:	n/a	n/a
37	CBX3	chr5:179499030-179499654	K562	blood:	n/a	n/a
38	SIN3AK20	chr5:179498997-179499393	A549	lung:	n/a	n/a
39	POLR2A	chr5:179498794-179499343	U87	brain:	n/a	n/a
40	MYC	chr5:179499126-179499235	HepG2	liver:	n/a	n/a
41	ELF1	chr5:179498825-179499352	K562	blood:	n/a	n/a
42	GABPA	chr5:179498751-179499478	K562	blood:	n/a	chr5:179499200-179499209 chr5:179499200-179499211
43	GTF2F1	chr5:179499000-179499420	Hela-S3	cervix:	n/a	n/a
44	TAF1	chr5:179498401-179499268	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr5:179498830-179499299	Hela-S3	cervix:	n/a	n/a
46	RCOR1	chr5:179498853-179499357	Hela-S3	cervix:	n/a	n/a
47	HCFC1	chr5:179498251-179499368	K562	blood:	n/a	n/a
48	MAX	chr5:179498841-179499616	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr5:179497996-179499279	IMR90	lung:	n/a	n/a
50	POLR2A	chr5:179498398-179499346	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:179499106-179499156	HEEpiC	esophagus:	n/a
2	chr5:179499106-179499156	GM19239	blood:	n/a
3	chr5:179499106-179499156	HCM	heart:	n/a
4	chr5:179499106-179499156	PANC-1	pancreas:	n/a
5	chr5:179499106-179499156	T-47D	breast:	n/a
6	chr5:179499106-179499156	Jurkat	blood:	n/a
7	chr5:179499106-179499156	GM12892	blood:	n/a
8	chr5:179499106-179499156	AoSMC	blood vessel:	n/a
9	chr5:179499106-179499156	ProgFib	skin:	n/a
10	chr5:179499106-179499156	ECC-1	luminal epithelium:	n/a
11	chr5:179499106-179499156	SK-N-SH	brain:	n/a
12	chr5:179499106-179499156	HPAEpiC	pulmonary alveolar:	n/a
13	chr5:179499106-179499156	SK-N-SH_RA	brain:	n/a
14	chr5:179499106-179499156	RPTEC	kidney:	n/a
15	chr5:179499106-179499156	IMR90	lung:	fetal
16	chr5:179499106-179499156	Hepatocyte	liver:	n/a
17	chr5:179499106-179499156	NH-A	brain:	n/a
18	chr5:179499106-179499156	SKMC	muscle:	n/a
19	chr5:179499106-179499156	CMK	blood:	n/a
20	chr5:179499106-179499156	SK-N-MC	brain:	n/a
21	chr5:179499106-179499156	U87	brain:	n/a
22	chr5:179499106-179499156	BE2_C	brain:	n/a
23	chr5:179499106-179499156	AG04450	lung:	fetal
24	chr5:179499106-179499156	GM12878	blood:	n/a
25	chr5:179499106-179499156	Caco-2	colon:	n/a
26	chr5:179499106-179499156	GM12891	blood:	n/a
27	chr5:179499106-179499156	HRPEpiC	eye:	n/a
28	chr5:179499106-179499156	PrEC	prostate:	n/a
29	chr5:179499106-179499156	NHBE	bronchial:	n/a
30	chr5:179499106-179499156	HRE	kidney:	n/a
31	chr5:179499106-179499156	HCT-116	colon:	n/a
32	chr5:179499106-179499156	HNPCEpiC	eye:	n/a
33	chr5:179499106-179499156	ovcar-3	ovarian:	n/a
34	chr5:179499106-179499156	A549	lung:	n/a
35	chr5:179499106-179499156	NHDF-neo	bronchial:	n/a
36	chr5:179499106-179499156	K562	blood:	n/a
37	chr5:179499106-179499156	NB4	blood:	n/a
38	chr5:179499106-179499156	HAEpiC	amniotic membrane:	n/a
39	chr5:179499106-179499156	HMEC	breast:	n/a
40	chr5:179499106-179499156	HCPEpiC	choroid plexus:	n/a
41	chr5:179499106-179499156	HUVEC	blood vessel:	n/a
42	chr5:179499106-179499156	Hela-S3	cervix:	n/a
43	chr5:179499106-179499156	AG04449	skin:	fetal
44	chr5:179499106-179499156	SAEC	small airway:	n/a
45	chr5:179499106-179499156	GM06990	blood:	n/a
46	chr5:179499106-179499156	NT2-D1	testis:	n/a
47	chr5:179499106-179499156	H1-hESC	embryonic stem cell:	embryo
48	chr5:179499106-179499156	AG09309	skin:	n/a
49	chr5:179499106-179499156	HCF	heart:	n/a
50	chr5:179499106-179499156	LNCaP	prostate:	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	chr5:179285987..179287986-chr5:179498943..179500555,2	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:

No data

Variant related genes	Relation type
RNF130	TF binding region
RNF130	CpG island
ENSG00000161021	Chromatin interaction
ENSG00000245317	Chromatin interaction
ENSG00000253480	Chromatin interaction
ENSG00000197226	Chromatin interaction
ENSG00000161011	Chromatin interaction
ENSG00000161010	Chromatin interaction
ENSG00000161013	Chromatin interaction
ENSG00000155506	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: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	chr5:179495800-179499200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:179496600-179499200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:179496600-179499200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:179496600-179499400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr5:179496800-179499200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:179496800-179499400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr5:179496800-179499400	Active TSS	Brain Substantia Nigra	brain
10	chr5:179496800-179499600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:179497000-179499200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:179497000-179499200	Active TSS	Brain Cingulate Gyrus	brain
13	chr5:179497000-179499200	Active TSS	Fetal Muscle Trunk	muscle
14	chr5:179497000-179499400	Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr5:179497000-179499400	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr5:179497200-179499200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr5:179497200-179499200	Active TSS	H9 Cell Line	embryonic stem cell
18	chr5:179497200-179499200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr5:179497200-179499200	Active TSS	Brain Hippocampus Middle	brain
20	chr5:179497200-179499200	Bivalent/Poised TSS	Thymus	Thymus
21	chr5:179497200-179499400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:179497200-179499400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:179497200-179499400	Active TSS	Fetal Brain Female	brain
24	chr5:179497200-179499400	Active TSS	Left Ventricle	heart
25	chr5:179497200-179499400	Active TSS	Right Ventricle	heart
26	chr5:179497200-179499800	Active TSS	Brain Angular Gyrus	brain
27	chr5:179497200-179499800	Active TSS	Brain Anterior Caudate	brain
28	chr5:179497400-179499200	Active TSS	Primary monocytes fromperipheralblood	blood
29	chr5:179497400-179499200	Active TSS	Gastric	stomach
30	chr5:179497400-179499200	Active TSS	Pancreas	Pancrea
31	chr5:179497400-179499200	Active TSS	Psoas Muscle	Psoas
32	chr5:179497400-179499200	Active TSS	Stomach Mucosa	stomach
33	chr5:179497400-179499200	Active TSS	HSMMtube	muscle
34	chr5:179497400-179499400	Active TSS	Ovary	ovary
35	chr5:179497400-179499400	Active TSS	Right Atrium	heart
36	chr5:179497600-179499200	Active TSS	H1 Cell Line	embryonic stem cell
37	chr5:179497600-179499200	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr5:179497600-179499200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
39	chr5:179497600-179499200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:179497600-179499200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:179497600-179499200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr5:179497600-179499200	Active TSS	NHDF-Ad	bronchial
43	chr5:179497600-179499200	Active TSS	NHLF	lung
44	chr5:179497600-179499400	Active TSS	Colon Smooth Muscle	Colon
45	chr5:179497600-179499400	Active TSS	HSMM	muscle
46	chr5:179497600-179499600	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr5:179497600-179499600	Active TSS	Fetal Lung	lung
48	chr5:179497600-179499800	Active TSS	Rectal Smooth Muscle	rectum
49	chr5:179497800-179499200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr5:179497800-179499200	Active TSS	iPS-15b Cell Line	embryonic stem cell

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