Variant report

Variant	rs534053763
Chromosome Location	chr7:100424788-100424789
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	MAX	chr7:100422794-100425971	K562	blood:	n/a	chr7:100424953-100424963 chr7:100424987-100424997
2	POLR2A	chr7:100424401-100425669	MCF-7	breast:	n/a	n/a
3	MAX	chr7:100422691-100425951	MCF-7	breast:	n/a	chr7:100424953-100424963 chr7:100424987-100424997
4	MYC	chr7:100424597-100425824	K562	blood:	n/a	chr7:100424953-100424963 chr7:100424987-100424997
5	POLR2A	chr7:100424767-100424921	A549	lung:	n/a	n/a
6	ZBTB7A	chr7:100424207-100424813	ECC-1	luminal epithelium:	n/a	chr7:100424685-100424699 chr7:100424691-100424699
7	RAD21	chr7:100422224-100424797	SK-N-SH	brain:	n/a	chr7:100423965-100423978
8	SIN3A	chr7:100423620-100425862	H1-hESC	embryonic stem cell:	n/a	chr7:100424058-100424069 chr7:100425437-100425450
9	POLR2A	chr7:100424550-100425796	K562	blood:	n/a	n/a
10	POLR2A	chr7:100424606-100426173	HepG2	liver:	n/a	n/a
11	E2F4	chr7:100424565-100425638	K562	blood:	n/a	chr7:100425038-100425047
12	POLR2A	chr7:100424707-100425765	ProgFib	skin:	n/a	n/a
13	POLR2A	chr7:100424458-100425873	HCT-116	colon:	n/a	n/a
14	HDAC2	chr7:100424780-100425790	K562	blood:	n/a	chr7:100425633-100425647
15	TCF12	chr7:100424730-100425757	ECC-1	luminal epithelium:	n/a	n/a
16	YY1	chr7:100424455-100425888	K562	blood:	n/a	chr7:100424949-100424963 chr7:100424806-100424815 chr7:100425676-100425690 chr7:100424803-100424817 chr7:100424800-100424814
17	POLR2A	chr7:100424446-100425147	Hela-S3	cervix:	n/a	n/a
18	ZBTB7A	chr7:100424589-100425888	ECC-1	luminal epithelium:	n/a	chr7:100424685-100424699 chr7:100424691-100424699
19	JUN	chr7:100422826-100426015	K562	blood:	n/a	n/a
20	MXI1	chr7:100422162-100426238	IMR90	lung:	n/a	n/a
21	POLR2A	chr7:100424313-100425927	K562	blood:	n/a	n/a
22	YY1	chr7:100424453-100425732	HepG2	liver:	n/a	chr7:100424949-100424963 chr7:100424806-100424815 chr7:100425676-100425690 chr7:100424803-100424817 chr7:100424800-100424814
23	TAF1	chr7:100424567-100425696	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAX	chr7:100424671-100424856	K562	blood:	n/a	n/a
25	MAX	chr7:100424347-100425964	A549	lung:	n/a	chr7:100424953-100424963 chr7:100424987-100424997
26	POLR2A	chr7:100424537-100425078	Hela-S3	cervix:	n/a	n/a
27	MAX	chr7:100424469-100425919	A549	lung:	n/a	chr7:100424953-100424963 chr7:100424987-100424997
28	MAZ	chr7:100424409-100425812	K562	blood:	n/a	chr7:100424953-100424963 chr7:100424987-100424997
29	E2F1	chr7:100424639-100425042	Hela-S3	cervix:	n/a	n/a
30	MYC	chr7:100424606-100425836	K562	blood:	n/a	chr7:100424953-100424963 chr7:100424987-100424997
31	TAF1	chr7:100424696-100425682	HepG2	liver:	n/a	n/a
32	YY1	chr7:100424495-100425161	K562	blood:	n/a	chr7:100424949-100424963 chr7:100424806-100424815 chr7:100424803-100424817 chr7:100424800-100424814
33	POLR2A	chr7:100424433-100425539	Hela-S3	cervix:	n/a	n/a
34	HMGN3	chr7:100424513-100425627	K562	blood:	n/a	n/a
35	CTCF	chr7:100422524-100425952	SK-N-SH	brain:	n/a	chr7:100425569-100425590 chr7:100424947-100424956 chr7:100424800-100424813 chr7:100425592-100425613 chr7:100425599-100425612 chr7:100425602-100425610 chr7:100424039-100424052 chr7:100425597-100425615
36	TAF1	chr7:100424431-100425003	K562	blood:	n/a	n/a
37	POLR2A	chr7:100424453-100425730	K562	blood:	n/a	n/a
38	TEAD4	chr7:100424418-100425914	SK-N-SH	brain:	n/a	n/a
39	E2F6	chr7:100424640-100424971	K562	blood:	n/a	n/a
40	POLR2A	chr7:100424781-100425763	MCF-7	breast:	n/a	n/a
41	POLR2A	chr7:100424469-100424789	Hela-S3	cervix:	n/a	n/a
42	SIN3AK20	chr7:100424292-100425884	SK-N-SH	brain:	n/a	n/a
43	POLR2A	chr7:100424466-100425694	A549	lung:	n/a	n/a
44	CCNT2	chr7:100424598-100425656	K562	blood:	n/a	chr7:100425417-100425426 chr7:100425334-100425343
45	MAX	chr7:100424721-100425771	K562	blood:	n/a	chr7:100424953-100424963 chr7:100424987-100424997
46	POLR2A	chr7:100424697-100425213	A549	lung:	n/a	n/a
47	ELF1	chr7:100424512-100425683	K562	blood:	n/a	chr7:100424806-100424815 chr7:100425013-100425022 chr7:100424962-100424974
48	HA-E2F1	chr7:100424189-100425867	MCF-7	breast:	n/a	chr7:100424277-100424286 chr7:100425038-100425047
49	POLR2A	chr7:100424545-100425722	PANC-1	pancreas:	n/a	n/a
50	POLR2A	chr7:100424724-100424930	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:100422826..100425783-chr7:100447402..100452140,5	K562	blood:
2	chr7:100026299..100028984-chr7:100423719..100425446,2	MCF-7	breast:
3	chr7:100303807..100306073-chr7:100423703..100425515,2	MCF-7	breast:
4	chr7:100423752..100426266-chr7:100463292..100466439,3	MCF-7	breast:
5	chr7:100302193..100303928-chr7:100423782..100426431,2	K562	blood:
6	chr7:100422507..100426422-chr7:100448675..100454510,8	MCF-7	breast:
7	chr7:100424338..100424916-chr9:124132047..124132991,2	NB4	blood:
8	chr7:100423550..100425060-chr7:100485976..100488045,2	K562	blood:
9	chr7:100422507..100425208-chr7:100700393..100702455,2	MCF-7	breast:
10	chr7:100424369..100426851-chr7:100449777..100451891,3	MCF-7	breast:
11	chr7:100317495..100321039-chr7:100423744..100425687,3	MCF-7	breast:
12	chr7:100026028..100027729-chr7:100422435..100425262,2	MCF-7	breast:
13	chr7:100422126..100425537-chr7:100471170..100475559,4	MCF-7	breast:
14	chr7:100223251..100225945-chr7:100423491..100425881,2	MCF-7	breast:
15	chr7:100410343..100413835-chr7:100422249..100426210,7	MCF-7	breast:
16	chr7:100423424..100426106-chr7:100484562..100490364,9	MCF-7	breast:
17	chr7:100183417..100185001-chr7:100424655..100427018,2	K562	blood:
18	chr7:100208147..100211165-chr7:100422696..100426389,3	MCF-7	breast:
19	chr7:100301669..100305063-chr7:100423516..100428632,6	MCF-7	breast:
20	chr7:100423433..100426983-chr7:100448013..100452140,5	K562	blood:
21	chr20:49345925..49349495-chr7:100424000..100426504,3	MCF-7	breast:

Variant related genes	Relation type
EPHB4	TF binding region
ENSG00000236305	Chromatin interaction
ENSG00000087077	Chromatin interaction
ENSG00000176125	Chromatin interaction
ENSG00000222636	Chromatin interaction
ENSG00000130427	Chromatin interaction
ENSG00000146828	Chromatin interaction
ENSG00000106327	Chromatin interaction
ENSG00000172336	Chromatin interaction
ENSG00000087087	Chromatin interaction
ENSG00000124171	Chromatin interaction
ENSG00000106336	Chromatin interaction
ENSG00000106330	Chromatin interaction
ENSG00000077454	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000196411	Chromatin interaction
ENSG00000148175	Chromatin interaction
ENSG00000078487	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv470381	chr7:100240191-100431980	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1020837	chr7:100313122-100508635	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	nsv464647	chr7:100374087-100497131	Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
8	nsv607965	chr7:100374087-100497131	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
9	nsv1032673	chr7:100382250-100606794	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
10	nsv888797	chr7:100386900-100482026	Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
11	nsv888798	chr7:100406144-100472826	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
12	nsv888799	chr7:100406144-100497131	Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
13	nsv888800	chr7:100411278-100436446	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	nsv888801	chr7:100416250-100497131	Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
15	nsv464648	chr7:100422156-100518458	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
16	nsv607966	chr7:100422156-100518458	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
17	esv3441371	chr7:100423841-100426389	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100421800-100425000	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr7:100422200-100426400	Active TSS	Right Ventricle	heart
3	chr7:100422400-100425600	Active TSS	Lung	lung
4	chr7:100422400-100425800	Active TSS	Left Ventricle	heart
5	chr7:100422400-100426400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:100422400-100426400	Active TSS	Right Atrium	heart
7	chr7:100422600-100424800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
8	chr7:100422600-100426400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:100422800-100426400	Active TSS	Fetal Kidney	kidney
10	chr7:100422800-100427200	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr7:100423000-100425400	Active TSS	Small Intestine	intestine
12	chr7:100423000-100425400	Active TSS	HMEC	breast
13	chr7:100423000-100426200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:100423000-100426600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:100423200-100425400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:100423200-100425800	Active TSS	Brain Anterior Caudate	brain
17	chr7:100423200-100425800	Active TSS	Fetal Lung	lung
18	chr7:100423400-100425400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
19	chr7:100423400-100425400	Active TSS	Esophagus	oesophagus
20	chr7:100423400-100425400	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
21	chr7:100423400-100426000	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr7:100423400-100426400	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr7:100423400-100426800	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr7:100423400-100427000	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr7:100423400-100427200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:100423600-100425400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:100423600-100425400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr7:100423600-100425400	Active TSS	Rectal Smooth Muscle	rectum
29	chr7:100423600-100425400	Active TSS	Sigmoid Colon	Sigmoid Colon
30	chr7:100423600-100425400	Bivalent/Poised TSS	Thymus	Thymus
31	chr7:100423600-100425600	Active TSS	NHEK	skin
32	chr7:100423600-100425800	Bivalent/Poised TSS	HepG2	liver
33	chr7:100423600-100426200	Active TSS	Ovary	ovary
34	chr7:100423600-100426200	Active TSS	HSMM	muscle
35	chr7:100423600-100426200	Active TSS	HUVEC	blood vessel
36	chr7:100423600-100426400	Active TSS	H1 Cell Line	embryonic stem cell
37	chr7:100423600-100426400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:100423600-100426400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:100423600-100426400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:100423600-100426400	Active TSS	NHDF-Ad	bronchial
41	chr7:100423600-100427000	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr7:100423600-100427200	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr7:100423600-100427400	Active TSS	H9 Cell Line	embryonic stem cell
44	chr7:100423800-100425400	Active TSS	Pancreas	Pancrea
45	chr7:100423800-100425800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr7:100423800-100426000	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr7:100423800-100426000	Active TSS	Hela-S3	cervix
48	chr7:100423800-100426200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:100423800-100426400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:100423800-100426400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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