Variant report

Variant	rs200488259
Chromosome Location	chr7:100424586-100424587
allele	-/CG
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	ZBTB7A	chr7:100424207-100424813	ECC-1	luminal epithelium:	n/a	chr7:100424685-100424699 chr7:100424691-100424699
5	RAD21	chr7:100422224-100424797	SK-N-SH	brain:	n/a	chr7:100423965-100423978
6	POLR2A	chr7:100424525-100424673	A549	lung:	n/a	n/a
7	SIN3A	chr7:100423620-100425862	H1-hESC	embryonic stem cell:	n/a	chr7:100424058-100424069 chr7:100425437-100425450
8	POLR2A	chr7:100424550-100425796	K562	blood:	n/a	n/a
9	E2F4	chr7:100424565-100425638	K562	blood:	n/a	chr7:100425038-100425047
10	POLR2A	chr7:100424458-100425873	HCT-116	colon:	n/a	n/a
11	YY1	chr7:100424455-100425888	K562	blood:	n/a	chr7:100424949-100424963 chr7:100424806-100424815 chr7:100425676-100425690 chr7:100424803-100424817 chr7:100424800-100424814
12	POLR2A	chr7:100424446-100425147	Hela-S3	cervix:	n/a	n/a
13	TAF1	chr7:100424198-100424672	H1-hESC	embryonic stem cell:	n/a	n/a
14	JUN	chr7:100422826-100426015	K562	blood:	n/a	n/a
15	MXI1	chr7:100422162-100426238	IMR90	lung:	n/a	n/a
16	POLR2A	chr7:100424313-100425927	K562	blood:	n/a	n/a
17	YY1	chr7:100424453-100425732	HepG2	liver:	n/a	chr7:100424949-100424963 chr7:100424806-100424815 chr7:100425676-100425690 chr7:100424803-100424817 chr7:100424800-100424814
18	TAF1	chr7:100424567-100425696	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr7:100424560-100424710	HCPEpiC	choroid plexus:	n/a	n/a
20	MAX	chr7:100424347-100425964	A549	lung:	n/a	chr7:100424953-100424963 chr7:100424987-100424997
21	POLR2A	chr7:100424537-100425078	Hela-S3	cervix:	n/a	n/a
22	MAX	chr7:100424469-100425919	A549	lung:	n/a	chr7:100424953-100424963 chr7:100424987-100424997
23	MAZ	chr7:100424409-100425812	K562	blood:	n/a	chr7:100424953-100424963 chr7:100424987-100424997
24	CTCF	chr7:100424580-100424730	SAEC	small airway:	n/a	n/a
25	CTCF	chr7:100424580-100424730	SK-N-SH_RA	brain:	n/a	n/a
26	YY1	chr7:100424495-100425161	K562	blood:	n/a	chr7:100424949-100424963 chr7:100424806-100424815 chr7:100424803-100424817 chr7:100424800-100424814
27	POLR2A	chr7:100424433-100425539	Hela-S3	cervix:	n/a	n/a
28	HMGN3	chr7:100424513-100425627	K562	blood:	n/a	n/a
29	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
30	TAF1	chr7:100424431-100425003	K562	blood:	n/a	n/a
31	POLR2A	chr7:100424453-100425730	K562	blood:	n/a	n/a
32	TEAD4	chr7:100424418-100425914	SK-N-SH	brain:	n/a	n/a
33	POLR2A	chr7:100424469-100424789	Hela-S3	cervix:	n/a	n/a
34	SIN3AK20	chr7:100424292-100425884	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr7:100424466-100425694	A549	lung:	n/a	n/a
36	HCFC1	chr7:100424466-100424647	K562	blood:	n/a	n/a
37	ELF1	chr7:100424512-100425683	K562	blood:	n/a	chr7:100424806-100424815 chr7:100425013-100425022 chr7:100424962-100424974
38	HA-E2F1	chr7:100424189-100425867	MCF-7	breast:	n/a	chr7:100424277-100424286 chr7:100425038-100425047
39	POLR2A	chr7:100424545-100425722	PANC-1	pancreas:	n/a	n/a
40	ZBTB7A	chr7:100424359-100425735	K562	blood:	n/a	chr7:100424685-100424699 chr7:100424691-100424699
41	POLR2A	chr7:100424490-100425598	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr7:100423565-100425956	HUVEC	blood vessel:	n/a	n/a
43	UBTF	chr7:100424410-100425771	K562	blood:	n/a	n/a
44	POLR2A	chr7:100422235-100427552	HUVEC	blood vessel:	n/a	n/a
45	NRF1	chr7:100424302-100425936	SK-N-SH	brain:	n/a	chr7:100425038-100425047
46	SIN3AK20	chr7:100422470-100426001	MCF-7	breast:	n/a	n/a
47	ZBTB7A	chr7:100424452-100425858	K562	blood:	n/a	chr7:100424685-100424699 chr7:100424691-100424699
48	HEY1	chr7:100424469-100425790	K562	blood:	n/a	chr7:100424795-100424810
49	POLR2A	chr7:100424543-100425708	MCF-7	breast:	n/a	n/a
50	HDAC2	chr7:100424150-100425927	MCF-7	breast:	n/a	chr7:100424294-100424308 chr7:100424299-100424313 chr7:100425633-100425647

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	chr7:100421802..100424702-chr7:100482689..100484467,2	MCF-7	breast:
8	chr7:100424338..100424916-chr9:124132047..124132991,2	NB4	blood:
9	chr7:100423550..100425060-chr7:100485976..100488045,2	K562	blood:
10	chr7:100422507..100425208-chr7:100700393..100702455,2	MCF-7	breast:
11	chr7:100424369..100426851-chr7:100449777..100451891,3	MCF-7	breast:
12	chr7:100317495..100321039-chr7:100423744..100425687,3	MCF-7	breast:
13	chr7:100026028..100027729-chr7:100422435..100425262,2	MCF-7	breast:
14	chr7:100422126..100425537-chr7:100471170..100475559,4	MCF-7	breast:
15	chr7:100223251..100225945-chr7:100423491..100425881,2	MCF-7	breast:
16	chr7:100410343..100413835-chr7:100422249..100426210,7	MCF-7	breast:
17	chr7:100423424..100426106-chr7:100484562..100490364,9	MCF-7	breast:
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:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC12A9-1	chr7:100424442-100424669	NONHSAT122409

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

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 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
18	esv1379595	chr7:100424586-100424587	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
19	esv2049475	chr7:100424586-100424588	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
20	nsv367216	chr7:100424587-100424588	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 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	chr7:100422200-100424600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
3	chr7:100422200-100426400	Active TSS	Right Ventricle	heart
4	chr7:100422400-100425600	Active TSS	Lung	lung
5	chr7:100422400-100425800	Active TSS	Left Ventricle	heart
6	chr7:100422400-100426400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:100422400-100426400	Active TSS	Right Atrium	heart
8	chr7:100422600-100424800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
9	chr7:100422600-100426400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:100422800-100424600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
11	chr7:100422800-100424600	Flanking Active TSS	Fetal Muscle Trunk	muscle
12	chr7:100422800-100426400	Active TSS	Fetal Kidney	kidney
13	chr7:100422800-100427200	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr7:100423000-100424600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr7:100423000-100424600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:100423000-100425400	Active TSS	Small Intestine	intestine
17	chr7:100423000-100425400	Active TSS	HMEC	breast
18	chr7:100423000-100426200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:100423000-100426600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:100423200-100424600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
21	chr7:100423200-100425400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:100423200-100425800	Active TSS	Brain Anterior Caudate	brain
23	chr7:100423200-100425800	Active TSS	Fetal Lung	lung
24	chr7:100423400-100424600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:100423400-100424600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr7:100423400-100425400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
27	chr7:100423400-100425400	Active TSS	Esophagus	oesophagus
28	chr7:100423400-100425400	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
29	chr7:100423400-100426000	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr7:100423400-100426400	Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr7:100423400-100426800	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr7:100423400-100427000	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr7:100423400-100427200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:100423600-100424600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
35	chr7:100423600-100425400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:100423600-100425400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr7:100423600-100425400	Active TSS	Rectal Smooth Muscle	rectum
38	chr7:100423600-100425400	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr7:100423600-100425400	Bivalent/Poised TSS	Thymus	Thymus
40	chr7:100423600-100425600	Active TSS	NHEK	skin
41	chr7:100423600-100425800	Bivalent/Poised TSS	HepG2	liver
42	chr7:100423600-100426200	Active TSS	Ovary	ovary
43	chr7:100423600-100426200	Active TSS	HSMM	muscle
44	chr7:100423600-100426200	Active TSS	HUVEC	blood vessel
45	chr7:100423600-100426400	Active TSS	H1 Cell Line	embryonic stem cell
46	chr7:100423600-100426400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr7:100423600-100426400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:100423600-100426400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr7:100423600-100426400	Active TSS	NHDF-Ad	bronchial
50	chr7:100423600-100427000	Active TSS	iPS-15b Cell Line	embryonic stem cell

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