Variant report

Variant	rs552942640
Chromosome Location	chr4:15657478-15657479
allele	A/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	YY1	chr4:15656256-15657596	K562	blood:	n/a	chr4:15656680-15656694 chr4:15656727-15656738 chr4:15656730-15656744 chr4:15657321-15657333 chr4:15656621-15656630 chr4:15656729-15656743 chr4:15657480-15657491
2	YY1	chr4:15656700-15657648	A549	lung:	n/a	chr4:15656727-15656738 chr4:15656730-15656744 chr4:15657321-15657333 chr4:15656729-15656743 chr4:15657480-15657491
3	POLR2A	chr4:15656670-15657484	GM12878	blood:	n/a	n/a
4	POLR2A	chr4:15656283-15658011	Raji	blood:	n/a	n/a
5	TAF7	chr4:15656224-15657979	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAFK	chr4:15657076-15657591	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr4:15656737-15657570	MCF-7	breast:	n/a	chr4:15657135-15657145 chr4:15657091-15657100 chr4:15657092-15657103 chr4:15657093-15657102 chr4:15657091-15657106
8	POLR2A	chr4:15656638-15657891	SK-N-SH	brain:	n/a	n/a
9	YY1	chr4:15656677-15657682	SK-N-SH	brain:	n/a	chr4:15656680-15656694 chr4:15656727-15656738 chr4:15656730-15656744 chr4:15657321-15657333 chr4:15656729-15656743 chr4:15657480-15657491
10	POU2F2	chr4:15656962-15657524	GM12891	blood:	n/a	chr4:15657366-15657378
11	RELA	chr4:15656722-15657543	GM15510	blood:	n/a	n/a
12	JUND	chr4:15656842-15658077	H1-hESC	embryonic stem cell:	n/a	chr4:15657445-15657459
13	POLR2A	chr4:15656210-15657834	MCF10A-Er-Src	breast:	n/a	n/a
14	NFATC1	chr4:15656975-15657527	GM12878	blood:	n/a	n/a
15	BCL3	chr4:15656632-15657493	A549	lung:	n/a	chr4:15656667-15656680 chr4:15656648-15656661 chr4:15656729-15656742
16	MAZ	chr4:15655158-15657667	K562	blood:	n/a	chr4:15657135-15657145 chr4:15657091-15657100 chr4:15657092-15657103 chr4:15657093-15657102 chr4:15657091-15657106
17	YY1	chr4:15656525-15657631	SK-N-SH_RA	brain:	n/a	chr4:15656680-15656694 chr4:15656727-15656738 chr4:15656730-15656744 chr4:15657321-15657333 chr4:15656621-15656630 chr4:15656729-15656743 chr4:15657480-15657491
18	REST	chr4:15656581-15657531	HL-60	blood:	n/a	chr4:15657259-15657277 chr4:15656791-15656804
19	REST	chr4:15655634-15657879	H1-neurons	neurons:	n/a	chr4:15657259-15657277 chr4:15656362-15656375 chr4:15656791-15656804
20	E2F6	chr4:15656367-15657938	K562	blood:	n/a	chr4:15657782-15657789 chr4:15657565-15657575 chr4:15656733-15656742 chr4:15657800-15657817 chr4:15657131-15657143 chr4:15657581-15657590 chr4:15656988-15656997 chr4:15657130-15657141 chr4:15657587-15657597 chr4:15656984-15656993 chr4:15657782-15657789 chr4:15657782-15657789
21	CCNT2	chr4:15656329-15658018	K562	blood:	n/a	chr4:15657746-15657755 chr4:15657603-15657612
22	POLR2A	chr4:15656197-15658025	GM18505	blood:	n/a	n/a
23	POLR2A	chr4:15656070-15657503	H1-neurons	neurons:	n/a	n/a
24	CHD1	chr4:15656349-15657479	GM12878	blood:	n/a	n/a
25	POLR2A	chr4:15656200-15657889	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr4:15656486-15657671	HCT-116	colon:	n/a	n/a
27	E2F6	chr4:15656856-15657484	K562	blood:	n/a	chr4:15657131-15657143 chr4:15656988-15656997 chr4:15657130-15657141 chr4:15656984-15656993
28	MAX	chr4:15656740-15657597	SK-N-SH	brain:	n/a	chr4:15657135-15657145 chr4:15657091-15657100 chr4:15657092-15657103 chr4:15657093-15657102 chr4:15657091-15657106
29	POLR2A	chr4:15656252-15657826	GM15510	blood:	n/a	n/a
30	YY1	chr4:15656765-15657513	HepG2	liver:	n/a	chr4:15657321-15657333 chr4:15657480-15657491
31	TAF1	chr4:15656238-15658112	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr4:15656658-15658363	U87	brain:	n/a	n/a
33	POLR2A	chr4:15655492-15658152	HUVEC	blood vessel:	n/a	n/a
34	TAF1	chr4:15656237-15657792	ECC-1	luminal epithelium:	n/a	n/a
35	POLR2A	chr4:15656251-15657675	GM12878	blood:	n/a	n/a
36	POLR2A	chr4:15656626-15657768	HUVEC	blood vessel:	n/a	n/a
37	POLR2A	chr4:15656179-15658274	MCF-7	breast:	n/a	n/a
38	E2F6	chr4:15656815-15657490	K562	blood:	n/a	chr4:15657131-15657143 chr4:15656988-15656997 chr4:15657130-15657141 chr4:15656984-15656993
39	POLR2A	chr4:15656716-15657875	U87	brain:	n/a	n/a
40	POLR2A	chr4:15656721-15657493	GM12878	blood:	n/a	n/a
41	POLR2A	chr4:15656288-15657581	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr4:15656300-15658093	GM19099	blood:	n/a	n/a
43	POLR2A	chr4:15656638-15657502	PFSK-1	brain:	n/a	n/a
44	YY1	chr4:15656776-15657525	K562	blood:	n/a	chr4:15657321-15657333 chr4:15657480-15657491
45	ATF2	chr4:15657001-15658061	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr4:15657018-15657822	H1-hESC	embryonic stem cell:	n/a	n/a
47	GATA1	chr4:15654932-15657728	PBDE	blood:	n/a	chr4:15656777-15656786 chr4:15655275-15655285
48	POLR2A	chr4:15656576-15657694	GM12891	blood:	n/a	n/a
49	CREB1	chr4:15656261-15657656	HepG2	liver:	n/a	n/a
50	YY1	chr4:15656575-15658002	H1-hESC	embryonic stem cell:	n/a	chr4:15656680-15656694 chr4:15656727-15656738 chr4:15657806-15657816 chr4:15656730-15656744 chr4:15657746-15657757 chr4:15657321-15657333 chr4:15657806-15657816 chr4:15656621-15656630 chr4:15656729-15656743 chr4:15657480-15657491

No.	Distal block	Cell Line	Cell type
1	chr4:15651703..15660794-chr4:15677607..15686235,25	K562	blood:
2	chr4:15654775..15659231-chr4:15659761..15666940,9	K562	blood:
3	chr4:15649873..15653235-chr4:15657425..15660766,3	MCF-7	breast:
4	chr4:15002808..15006132-chr4:15656406..15658114,3	K562	blood:
5	chr4:15655671..15658131-chr4:15716646..15719360,2	MCF-7	breast:
6	chr4:15479740..15482605-chr4:15655501..15658427,3	MCF-7	breast:
7	chr4:15469326..15470996-chr4:15657243..15660173,2	MCF-7	breast:
8	chr4:15656159..15658615-chr4:15712805..15714316,2	K562	blood:
9	chr4:15650206..15660298-chr4:15677140..15687517,25	K562	blood:
10	chr4:15654963..15657954-chr4:15685988..15688544,3	MCF-7	breast:
11	chr21:34601586..34602556-chr4:15656823..15657778,2	NB4	blood:
12	chr12:122235040..122237798-chr4:15655451..15658367,2	MCF-7	breast:
13	chr4:15655595..15658742-chr4:15680185..15687360,10	MCF-7	breast:
14	chr4:15652080..15658606-chr4:15677363..15685579,17	MCF-7	breast:

Variant related genes	Relation type
FBXL5	TF binding region
ENSG00000118564	Chromatin interaction
ENSG00000137449	Chromatin interaction
ENSG00000048342	Chromatin interaction
ENSG00000109743	Chromatin interaction
ENSG00000237765	Chromatin interaction
ENSG00000159110	Chromatin interaction
ENSG00000247624	Chromatin interaction
ENSG00000272849	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	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2757923	chr4:15444617-15749520	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2759227	chr4:15444617-15749520	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv428439	chr4:15556961-15749520	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats 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	22 gene(s)	inside rSNPs	diseases
5	nsv1012988	chr4:15597510-16091527	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv518830	chr4:15610771-15672200	Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv521183	chr4:15610771-15692136	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	esv3322833	chr4:15655679-15658227	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
9	esv3351978	chr4:15655904-15658002	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	10 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	chr4:15653400-15657600	Active TSS	Right Atrium	heart
2	chr4:15653800-15657600	Active TSS	K562	blood
3	chr4:15654600-15657600	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr4:15654600-15658000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr4:15654600-15658200	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr4:15654800-15657600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:15654800-15657600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:15654800-15657600	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr4:15654800-15657600	Active TSS	GM12878-XiMat	blood
10	chr4:15654800-15658000	Active TSS	Psoas Muscle	Psoas
11	chr4:15655000-15657600	Active TSS	Aorta	Aorta
12	chr4:15655000-15657800	Active TSS	Left Ventricle	heart
13	chr4:15655000-15657800	Active TSS	Right Ventricle	heart
14	chr4:15655000-15658000	Active TSS	Ovary	ovary
15	chr4:15655200-15657600	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr4:15655200-15657800	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr4:15655600-15657600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr4:15655600-15657600	Active TSS	Brain Angular Gyrus	brain
19	chr4:15655600-15657600	Active TSS	Brain Germinal Matrix	brain
20	chr4:15655600-15657600	Active TSS	Fetal Stomach	stomach
21	chr4:15655600-15657600	Active TSS	Rectal Smooth Muscle	rectum
22	chr4:15655600-15657800	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr4:15655600-15657800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr4:15655600-15657800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr4:15655600-15657800	Active TSS	Brain Substantia Nigra	brain
26	chr4:15655600-15657800	Active TSS	Gastric	stomach
27	chr4:15655600-15657800	Active TSS	HSMMtube	muscle
28	chr4:15655600-15658200	Active TSS	H9 Cell Line	embryonic stem cell
29	chr4:15655600-15658200	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr4:15655800-15657600	Active TSS	Fetal Intestine Large	intestine
31	chr4:15655800-15657600	Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr4:15655800-15657600	Active TSS	Thymus	Thymus
33	chr4:15655800-15657800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:15655800-15657800	Active TSS	Colon Smooth Muscle	Colon
35	chr4:15655800-15657800	Active TSS	Fetal Lung	lung
36	chr4:15655800-15658000	Active TSS	Esophagus	oesophagus
37	chr4:15655800-15658200	Active TSS	Duodenum Mucosa	Duodenum
38	chr4:15655800-15658400	Active TSS	Brain Anterior Caudate	brain
39	chr4:15656000-15657600	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr4:15656000-15657600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr4:15656000-15657600	Active TSS	Fetal Heart	heart
42	chr4:15656000-15657600	Active TSS	Small Intestine	intestine
43	chr4:15656000-15657600	Active TSS	Hela-S3	cervix
44	chr4:15656000-15657800	Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr4:15656000-15657800	Active TSS	Fetal Brain Female	brain
46	chr4:15656000-15657800	Active TSS	Fetal Kidney	kidney
47	chr4:15656000-15658000	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr4:15656000-15658200	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr4:15656000-15658200	Active TSS	Rectal Mucosa Donor 31	rectum
50	chr4:15656000-15658200	Active TSS	Skeletal Muscle Female	skeletal muscle

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