Variant report

Variant	rs543771425
Chromosome Location	chr9:115984316-115984317
allele	C/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	CHD1	chr9:115983917-115984337	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr9:115983182-115984563	K562	blood:	n/a	n/a
3	MAX	chr9:115982891-115985189	Hela-S3	cervix:	n/a	chr9:115983813-115983823
4	TCF12	chr9:115982982-115984412	A549	lung:	n/a	n/a
5	MXI1	chr9:115981145-115984347	GM12878	blood:	n/a	n/a
6	POLR2A	chr9:115983152-115985096	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr9:115982795-115984928	Hela-S3	cervix:	n/a	n/a
8	SIN3A	chr9:115982839-115984504	H1-hESC	embryonic stem cell:	n/a	n/a
9	MYC	chr9:115984204-115984971	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr9:115983036-115984989	PFSK-1	brain:	n/a	n/a
11	GATA1	chr9:115983220-115984966	PBDE	blood:	n/a	chr9:115984689-115984697 chr9:115983235-115983243 chr9:115984786-115984794 chr9:115984413-115984422
12	REST	chr9:115982652-115984595	H1-neurons	neurons:	n/a	chr9:115983838-115983851
13	RELA	chr9:115982122-115984391	GM18951	blood:	n/a	n/a
14	MAX	chr9:115984312-115985099	K562	blood:	n/a	n/a
15	MAZ	chr9:115983047-115985166	IMR90	lung:	n/a	chr9:115983813-115983823
16	GATA2	chr9:115984204-115984920	K562	blood:	n/a	chr9:115984689-115984697 chr9:115984786-115984794 chr9:115984413-115984422
17	IRF1	chr9:115983330-115985086	K562	blood:	n/a	chr9:115985014-115985035 chr9:115983757-115983771 chr9:115983432-115983446
18	NR2F2	chr9:115982813-115984988	K562	blood:	n/a	n/a
19	TBP	chr9:115982984-115985238	Hela-S3	cervix:	n/a	n/a
20	HDAC2	chr9:115984082-115984535	K562	blood:	n/a	n/a
21	POLR2A	chr9:115983028-115984546	H1-hESC	embryonic stem cell:	n/a	n/a
22	ZMIZ1	chr9:115983464-115984365	K562	blood:	n/a	n/a
23	MXI1	chr9:115981681-115985060	SK-N-SH	brain:	n/a	n/a
24	E2F6	chr9:115983224-115984556	K562	blood:	n/a	chr9:115983818-115983827 chr9:115983815-115983827 chr9:115983252-115983264 chr9:115983732-115983741 chr9:115983819-115983826 chr9:115983816-115983827 chr9:115983819-115983826 chr9:115983805-115983817 chr9:115983819-115983826 chr9:115983730-115983739
25	JUND	chr9:115983337-115985168	K562	blood:	n/a	chr9:115983457-115983467 chr9:115983731-115983740
26	HEY1	chr9:115983222-115984361	HepG2	liver:	n/a	chr9:115983748-115983763 chr9:115983732-115983741 chr9:115984096-115984111 chr9:115983730-115983739
27	MXI1	chr9:115982886-115984345	HepG2	liver:	n/a	n/a
28	POLR2A	chr9:115984209-115984437	Hela-S3	cervix:	n/a	n/a
29	TEAD4	chr9:115984295-115985173	K562	blood:	n/a	n/a
30	TAF1	chr9:115983051-115984360	H1-hESC	embryonic stem cell:	n/a	n/a
31	MYC	chr9:115984260-115984413	H1-hESC	embryonic stem cell:	n/a	n/a
32	RELA	chr9:115982978-115984412	GM15510	blood:	n/a	n/a
33	MAZ	chr9:115983273-115985041	K562	blood:	n/a	chr9:115983813-115983823
34	HA-E2F1	chr9:115982893-115984704	MCF-7	breast:	n/a	chr9:115983818-115983827 chr9:115983815-115983827 chr9:115983252-115983264 chr9:115983732-115983741 chr9:115983819-115983826 chr9:115983819-115983826 chr9:115983805-115983817 chr9:115983819-115983826 chr9:115983730-115983739
35	HNF4A	chr9:115983223-115984420	HepG2	liver:	n/a	chr9:115983687-115983701 chr9:115983688-115983700
36	POLR2A	chr9:115982827-115984472	MCF10A-Er-Src	breast:	n/a	n/a
37	RCOR1	chr9:115983960-115985116	K562	blood:	n/a	n/a
38	JUND	chr9:115983465-115984352	H1-hESC	embryonic stem cell:	n/a	chr9:115983731-115983740
39	MAX	chr9:115982738-115984609	K562	blood:	n/a	chr9:115983813-115983823
40	POLR2A	chr9:115982355-115985172	IMR90	lung:	n/a	n/a
41	POLR2A	chr9:115983268-115984316	K562	blood:	n/a	n/a
42	E2F6	chr9:115983274-115984429	A549	lung:	n/a	chr9:115983818-115983827 chr9:115983815-115983827 chr9:115983732-115983741 chr9:115983819-115983826 chr9:115983816-115983827 chr9:115983819-115983826 chr9:115983805-115983817 chr9:115983819-115983826 chr9:115983730-115983739
43	MYC	chr9:115983007-115984897	K562	blood:	n/a	chr9:115983813-115983823
44	POLR2A	chr9:115983195-115985019	HepG2	liver:	n/a	n/a
45	NR2F2	chr9:115984170-115984508	K562	blood:	n/a	n/a
46	POLR2A	chr9:115983332-115984341	GM12878	blood:	n/a	n/a
47	POLR2A	chr9:115981548-115984508	GM12878	blood:	n/a	n/a
48	TAF1	chr9:115983124-115984322	ECC-1	luminal epithelium:	n/a	n/a
49	IRF1	chr9:115983350-115984354	K562	blood:	n/a	chr9:115983757-115983771 chr9:115983432-115983446
50	UBTF	chr9:115982790-115984700	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:115984268-115984318	AoSMC	blood vessel:	n/a
2	chr9:115984268-115984318	ProgFib	skin:	n/a
3	chr9:115984268-115984318	HCF	heart:	n/a
4	chr9:115984268-115984318	BJ	skin:	n/a
5	chr9:115984268-115984318	HIPEpiC	eye:	n/a
6	chr9:115984268-115984318	MCF-7	breast:	n/a
7	chr9:115984268-115984318	ECC-1	luminal epithelium:	n/a
8	chr9:115984268-115984318	A549	lung:	n/a
9	chr9:115984268-115984318	NH-A	brain:	n/a
10	chr9:115984268-115984318	HMEC	breast:	n/a
11	chr9:115984268-115984318	AG10803	skin:	n/a
12	chr9:115984268-115984318	K562	blood:	n/a
13	chr9:115984268-115984318	SK-N-SH_RA	brain:	n/a
14	chr9:115984268-115984318	Hela-S3	cervix:	n/a
15	chr9:115984268-115984318	HCT-116	colon:	n/a
16	chr9:115984268-115984318	GM12891	blood:	n/a
17	chr9:115984268-115984318	RPTEC	kidney:	n/a
18	chr9:115984268-115984318	NT2-D1	testis:	n/a
19	chr9:115984268-115984318	CMK	blood:	n/a
20	chr9:115984268-115984318	PrEC	prostate:	n/a
21	chr9:115984268-115984318	NHDF-neo	bronchial:	n/a
22	chr9:115984268-115984318	GM06990	blood:	n/a
23	chr9:115984268-115984318	Jurkat	blood:	n/a
24	chr9:115984268-115984318	LNCaP	prostate:	n/a
25	chr9:115984268-115984318	U87	brain:	n/a
26	chr9:115984268-115984318	HepG2	liver:	n/a
27	chr9:115984268-115984318	HEEpiC	esophagus:	n/a
28	chr9:115984268-115984318	T-47D	breast:	n/a
29	chr9:115984268-115984318	GM12878	blood:	n/a
30	chr9:115984268-115984318	H1-hESC	embryonic stem cell:	embryo
31	chr9:115984268-115984318	Hepatocyte	liver:	n/a
32	chr9:115984268-115984318	SK-N-SH	brain:	n/a
33	chr9:115984268-115984318	SKMC	muscle:	n/a
34	chr9:115984268-115984318	HRCEpiC	kidney:	n/a
35	chr9:115984268-115984318	PFSK-1	brain:	n/a
36	chr9:115984268-115984318	HPAEpiC	pulmonary alveolar:	n/a
37	chr9:115984268-115984318	HUVEC	blood vessel:	n/a
38	chr9:115984268-115984318	AG04450	lung:	fetal
39	chr9:115984268-115984318	ovcar-3	ovarian:	n/a
40	chr9:115984268-115984318	PANC-1	pancreas:	n/a
41	chr9:115984268-115984318	HAEpiC	amniotic membrane:	n/a
42	chr9:115984268-115984318	MCF10A-Er-Src	breast:	n/a
43	chr9:115984268-115984318	HL-60	blood:	n/a
44	chr9:115984268-115984318	GM19239	blood:	n/a
45	chr9:115984268-115984318	NB4	blood:	n/a
46	chr9:115984268-115984318	HRE	kidney:	n/a
47	chr9:115984268-115984318	AG09309	skin:	n/a
48	chr9:115984268-115984318	Caco-2	colon:	n/a
49	chr9:115984268-115984318	SAEC	small airway:	n/a
50	chr9:115984268-115984318	NHBE	bronchial:	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:115981728..115986983-chr9:116035777..116040437,9	K562	blood:
2	chr9:115980360..115986264-chr9:116170629..116175189,6	K562	blood:
3	chr12:53894115..53894858-chr9:115983781..115984688,2	Hela-S3	cervix:
4	chr9:115983607..115986374-chr9:116170251..116172763,3	MCF-7	breast:
5	chr9:115981852..115985156-chr9:116171660..116173942,3	MCF-7	breast:
6	chr9:115982263..115984734-chr9:116036359..116038354,4	MCF-7	breast:
7	chr9:115982005..115986983-chr9:116035777..116039702,5	K562	blood:
8	chr9:115983488..115985496-chr9:116035418..116038927,3	MCF-7	breast:

Variant related genes	Relation type
FKBP15	TF binding region
FKBP15	CpG island
ENSG00000157653	Chromatin interaction
ENSG00000176386	Chromatin interaction
ENSG00000148229	Chromatin interaction
ENSG00000139546	Chromatin interaction
ENSG00000270175	Chromatin interaction
ENSG00000136875	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758198	chr9:115240454-116002951	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759710	chr9:115240454-116002951	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv1035406	chr9:115883978-116003980	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv540201	chr9:115883978-116003980	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1042663	chr9:115920158-116167140	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv893744	chr9:115934852-116170227	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv893745	chr9:115955271-116005783	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1041112	chr9:115960704-116005783	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv893746	chr9:115983540-116022826	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	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	chr9:115981200-115985600	Active TSS	GM12878-XiMat	blood
2	chr9:115982000-115984800	Active TSS	H9 Cell Line	embryonic stem cell
3	chr9:115982000-115985000	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr9:115982000-115985000	Active TSS	Aorta	Aorta
5	chr9:115982200-115985000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr9:115982200-115985200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr9:115982200-115985400	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr9:115982200-115985600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr9:115982400-115984400	Active TSS	Fetal Muscle Trunk	muscle
10	chr9:115982400-115984400	Active TSS	Left Ventricle	heart
11	chr9:115982400-115984600	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr9:115982400-115984600	Active TSS	NHDF-Ad	bronchial
13	chr9:115982400-115984800	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr9:115982400-115985000	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr9:115982400-115985200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr9:115982400-115985400	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr9:115982400-115985400	Active TSS	HSMMtube	muscle
18	chr9:115982600-115984400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr9:115982600-115984400	Active TSS	K562	blood
20	chr9:115982600-115984600	Active TSS	H1 Cell Line	embryonic stem cell
21	chr9:115982600-115984600	Active TSS	Esophagus	oesophagus
22	chr9:115982600-115984600	Active TSS	Ovary	ovary
23	chr9:115982600-115984600	Active TSS	Sigmoid Colon	Sigmoid Colon
24	chr9:115982600-115984800	Active TSS	Psoas Muscle	Psoas
25	chr9:115982600-115984800	Active TSS	A549	lung
26	chr9:115982600-115984800	Active TSS	NHLF	lung
27	chr9:115982600-115985000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr9:115982600-115985600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr9:115982800-115984400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr9:115982800-115984400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr9:115982800-115984400	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr9:115982800-115984400	Active TSS	Gastric	stomach
33	chr9:115982800-115984400	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr9:115982800-115984400	Active TSS	HSMM	muscle
35	chr9:115982800-115984600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr9:115982800-115984600	Active TSS	Small Intestine	intestine
37	chr9:115982800-115984600	Active TSS	HMEC	breast
38	chr9:115982800-115984800	Active TSS	Fetal Intestine Large	intestine
39	chr9:115982800-115984800	Active TSS	Fetal Intestine Small	intestine
40	chr9:115982800-115985000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr9:115982800-115985000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr9:115982800-115985200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr9:115982800-115985200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr9:115982800-115985200	Active TSS	Lung	lung
45	chr9:115982800-115985200	Bivalent/Poised TSS	HepG2	liver
46	chr9:115983000-115984400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr9:115983000-115984400	Active TSS	Muscle Satellite Cultured Cells	--
48	chr9:115983000-115984400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr9:115983000-115984400	Active TSS	Brain Cingulate Gyrus	brain
50	chr9:115983000-115984400	Active TSS	Colonic Mucosa	Colon

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