Variant report

Variant	rs552508083
Chromosome Location	chr5:179499405-179499406
allele	C/T
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	TBL1XR1	chr5:179498996-179499410	K562	blood:	n/a	n/a
2	ZC3H11A	chr5:179499014-179499468	K562	blood:	n/a	n/a
3	SETDB1	chr5:179499048-179499940	K562	blood:	n/a	chr5:179499921-179499930 chr5:179499923-179499932
4	E2F6	chr5:179498031-179499904	K562	blood:	n/a	chr5:179499224-179499236 chr5:179499223-179499234 chr5:179498353-179498365 chr5:179498713-179498723 chr5:179499201-179499210
5	TEAD4	chr5:179498919-179499503	ECC-1	luminal epithelium:	n/a	n/a
6	MAX	chr5:179498799-179499594	K562	blood:	n/a	n/a
7	MAX	chr5:179497801-179499844	MCF-7	breast:	n/a	n/a
8	ATF3	chr5:179498875-179499483	A549	lung:	n/a	chr5:179499439-179499452
9	MAX	chr5:179498225-179499520	HUVEC	blood vessel:	n/a	n/a
10	MAX	chr5:179498157-179499509	HepG2	liver:	n/a	n/a
11	GTF2F1	chr5:179498960-179499500	K562	blood:	n/a	n/a
12	TCF7L2	chr5:179499181-179499426	Hela-S3	cervix:	n/a	chr5:179499359-179499369
13	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
14	SIX5	chr5:179498950-179499593	A549	lung:	n/a	n/a
15	GTF2F1	chr5:179499054-179499442	H1-hESC	embryonic stem cell:	n/a	n/a
16	MXI1	chr5:179499076-179499539	H1-hESC	embryonic stem cell:	n/a	n/a
17	BHLHE40	chr5:179497792-179499588	K562	blood:	n/a	chr5:179499102-179499118 chr5:179499110-179499126 chr5:179499223-179499239 chr5:179498712-179498728 chr5:179498706-179498722
18	REST	chr5:179498912-179499507	A549	lung:	n/a	chr5:179499253-179499266 chr5:179499260-179499278 chr5:179499253-179499266 chr5:179499305-179499318 chr5:179499302-179499315
19	CBX3	chr5:179499030-179499654	K562	blood:	n/a	n/a
20	EP300	chr5:179499281-179499457	K562	blood:	n/a	n/a
21	GABPA	chr5:179498751-179499478	K562	blood:	n/a	chr5:179499200-179499209 chr5:179499200-179499211
22	GTF2F1	chr5:179499000-179499420	Hela-S3	cervix:	n/a	n/a
23	MAX	chr5:179498841-179499616	Hela-S3	cervix:	n/a	n/a
24	MAX	chr5:179497921-179499736	ECC-1	luminal epithelium:	n/a	n/a
25	MAX	chr5:179498803-179499832	H1-hESC	embryonic stem cell:	n/a	n/a
26	CREB1	chr5:179498378-179499469	HepG2	liver:	n/a	n/a
27	ZBTB33	chr5:179498826-179499467	SK-N-SH	brain:	n/a	chr5:179499225-179499235
28	MYC	chr5:179498542-179499417	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr5:179498273-179499499	MCF-7	breast:	n/a	n/a
30	ZNF143	chr5:179499007-179499407	H1-hESC	embryonic stem cell:	n/a	chr5:179499034-179499052
31	MAX	chr5:179497912-179499842	K562	blood:	n/a	n/a
32	MYC	chr5:179497764-179499915	A549	lung:	n/a	chr5:179499900-179499910
33	MYC	chr5:179498552-179499446	K562	blood:	n/a	n/a
34	POLR2A	chr5:179497795-179499455	H1-neurons	neurons:	n/a	n/a
35	CBX3	chr5:179498767-179499835	K562	blood:	n/a	n/a
36	E2F6	chr5:179498788-179499652	K562	blood:	n/a	chr5:179499224-179499236 chr5:179499223-179499234 chr5:179499201-179499210
37	E2F6	chr5:179498035-179499942	A549	lung:	n/a	chr5:179499224-179499236 chr5:179499223-179499234 chr5:179498353-179498365 chr5:179498713-179498723 chr5:179499201-179499210
38	TCF12	chr5:179498821-179499581	ECC-1	luminal epithelium:	n/a	n/a
39	POLR2A	chr5:179497930-179499458	HL-60	blood:	n/a	n/a
40	E2F6	chr5:179498869-179499726	A549	lung:	n/a	chr5:179499224-179499236 chr5:179499223-179499234 chr5:179499201-179499210
41	GATA3	chr5:179498670-179499671	A549	lung:	n/a	n/a
42	MAX	chr5:179498031-179499671	HepG2	liver:	n/a	n/a
43	MAX	chr5:179498156-179499611	K562	blood:	n/a	n/a
44	TRIM28	chr5:179498801-179499507	K562	blood:	n/a	n/a
45	RAD21	chr5:179498797-179499408	H1-hESC	embryonic stem cell:	n/a	chr5:179499112-179499126
46	KAP1	chr5:179499231-179499486	K562	blood:	n/a	n/a
47	EP300	chr5:179498792-179499567	ECC-1	luminal epithelium:	n/a	n/a
48	MYBL2	chr5:179498817-179499568	HepG2	liver:	n/a	n/a
49	MAZ	chr5:179497973-179499446	K562	blood:	n/a	n/a
50	MAX	chr5:179498850-179499690	MCF-7	breast:	n/a	n/a

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:

Variant related genes	Relation type
RNF130	TF binding region
ENSG00000113269	Chromatin interaction
ENSG00000197226	Chromatin interaction
ENSG00000161010	Chromatin interaction
ENSG00000245317	Chromatin interaction
ENSG00000161011	Chromatin interaction
ENSG00000161021	Chromatin interaction
ENSG00000253480	Chromatin interaction
ENSG00000161013	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:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179496800-179499600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr5:179497200-179499800	Active TSS	Brain Angular Gyrus	brain
3	chr5:179497200-179499800	Active TSS	Brain Anterior Caudate	brain
4	chr5:179497600-179499600	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr5:179497600-179499600	Active TSS	Fetal Lung	lung
6	chr5:179497600-179499800	Active TSS	Rectal Smooth Muscle	rectum
7	chr5:179497800-179499800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:179498000-179499800	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr5:179498400-179499600	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr5:179498400-179499600	Active TSS	NH-A	brain
11	chr5:179498600-179499600	Active TSS	Colonic Mucosa	Colon
12	chr5:179499000-179499800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr5:179499200-179499600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr5:179499200-179499600	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr5:179499200-179499600	Flanking Active TSS	Primary B cells from peripheral blood	blood
16	chr5:179499200-179499600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
17	chr5:179499200-179499600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr5:179499200-179499600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr5:179499200-179499600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr5:179499200-179499600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:179499200-179499600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
22	chr5:179499200-179499600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr5:179499200-179499600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:179499200-179499600	Flanking Active TSS	Brain Cingulate Gyrus	brain
25	chr5:179499200-179499600	Enhancers	Fetal Heart	heart
26	chr5:179499200-179499600	Bivalent Enhancer	Fetal Stomach	stomach
27	chr5:179499200-179499600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
28	chr5:179499200-179499600	Enhancers	Lung	lung
29	chr5:179499200-179499600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr5:179499200-179499600	Flanking Active TSS	Stomach Mucosa	stomach
31	chr5:179499200-179499600	ZNF genes & repeats	A549	lung
32	chr5:179499200-179499600	ZNF genes & repeats	HMEC	breast
33	chr5:179499200-179499600	Flanking Active TSS	HSMMtube	muscle
34	chr5:179499200-179499600	Flanking Active TSS	K562	blood
35	chr5:179499200-179499800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:179499200-179499800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
37	chr5:179499200-179499800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr5:179499200-179499800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr5:179499200-179499800	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr5:179499200-179499800	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr5:179499200-179499800	ZNF genes & repeats	Fetal Intestine Large	intestine
42	chr5:179499200-179499800	Enhancers	Pancreas	Pancrea
43	chr5:179499200-179499800	Flanking Bivalent TSS/Enh	Thymus	Thymus
44	chr5:179499200-179500000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
45	chr5:179499200-179500000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
46	chr5:179499200-179500000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr5:179499200-179500000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
48	chr5:179499200-179500000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr5:179499200-179500000	Enhancers	Liver	Liver
50	chr5:179499200-179500000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland

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