Variant report

Variant	rs538213950
Chromosome Location	chr9:115984030-115984031
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	POLR2A	chr9:115983288-115984092	GM18526	blood:	n/a	n/a
2	PML	chr9:115983248-115984078	K562	blood:	n/a	chr9:115983963-115983971
3	CHD2	chr9:115983003-115984216	Hela-S3	cervix:	n/a	n/a
4	CHD1	chr9:115983917-115984337	H1-hESC	embryonic stem cell:	n/a	n/a
5	REST	chr9:115983786-115984117	A549	lung:	n/a	chr9:115983838-115983851
6	POLR2A	chr9:115983182-115984563	K562	blood:	n/a	n/a
7	HEY1	chr9:115983740-115984096	K562	blood:	n/a	chr9:115983748-115983763
8	POLR2A	chr9:115983262-115984099	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr9:115983160-115984205	MCF-7	breast:	n/a	n/a
10	TAF1	chr9:115983172-115984147	HepG2	liver:	n/a	n/a
11	POLR2A	chr9:115983225-115984167	A549	lung:	n/a	n/a
12	ELF1	chr9:115983147-115984271	GM12878	blood:	n/a	chr9:115983608-115983617 chr9:115984105-115984117 chr9:115983368-115983377
13	MAX	chr9:115982891-115985189	Hela-S3	cervix:	n/a	chr9:115983813-115983823
14	TCF12	chr9:115982982-115984412	A549	lung:	n/a	n/a
15	HEY1	chr9:115983759-115984072	HepG2	liver:	n/a	n/a
16	POLR2A	chr9:115983311-115984087	K562	blood:	n/a	n/a
17	MXI1	chr9:115981145-115984347	GM12878	blood:	n/a	n/a
18	POLR2A	chr9:115983152-115985096	Hela-S3	cervix:	n/a	n/a
19	GABPA	chr9:115983165-115984138	K562	blood:	n/a	n/a
20	POLR2A	chr9:115982795-115984928	Hela-S3	cervix:	n/a	n/a
21	ELF1	chr9:115982754-115984112	MCF-7	breast:	n/a	chr9:115983608-115983617 chr9:115983368-115983377
22	POLR2A	chr9:115983707-115984123	GM12892	blood:	n/a	n/a
23	PML	chr9:115981826-115984110	GM12878	blood:	n/a	chr9:115983963-115983971
24	TEAD4	chr9:115982956-115984076	K562	blood:	n/a	n/a
25	TEAD4	chr9:115983055-115984121	ECC-1	luminal epithelium:	n/a	n/a
26	SIN3A	chr9:115982839-115984504	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr9:115983139-115984209	ECC-1	luminal epithelium:	n/a	n/a
28	RCOR1	chr9:115983275-115984099	HepG2	liver:	n/a	n/a
29	E2F6	chr9:115983567-115984108	H1-hESC	embryonic stem cell:	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
30	POLR2A	chr9:115983313-115984086	K562	blood:	n/a	n/a
31	SP1	chr9:115983263-115984130	GM12878	blood:	n/a	chr9:115983814-115983825 chr9:115983804-115983816 chr9:115983804-115983816 chr9:115983759-115983768 chr9:115983757-115983769 chr9:115983805-115983814 chr9:115983757-115983769 chr9:115983435-115983445 chr9:115983815-115983824 chr9:115983801-115983815 chr9:115983435-115983445 chr9:115983811-115983825
32	CREB1	chr9:115983231-115984039	A549	lung:	n/a	n/a
33	POLR2A	chr9:115982918-115984226	H1-neurons	neurons:	n/a	n/a
34	BRCA1	chr9:115983701-115984066	HepG2	liver:	n/a	n/a
35	POLR2A	chr9:115983036-115984989	PFSK-1	brain:	n/a	n/a
36	EGR1	chr9:115983305-115984067	K562	blood:	n/a	chr9:115983810-115983823 chr9:115983809-115983824 chr9:115983810-115983823 chr9:115983812-115983822
37	POLR2A	chr9:115982995-115984233	MCF-7	breast:	n/a	n/a
38	MAX	chr9:115982891-115984039	K562	blood:	n/a	chr9:115983813-115983823
39	GATA1	chr9:115983220-115984966	PBDE	blood:	n/a	chr9:115984689-115984697 chr9:115983235-115983243 chr9:115984786-115984794 chr9:115984413-115984422
40	KAP1	chr9:115982993-115984095	HEK293	kidney:	n/a	chr9:115983963-115983971
41	REST	chr9:115982652-115984595	H1-neurons	neurons:	n/a	chr9:115983838-115983851
42	POLR2A	chr9:115983361-115984078	GM12878	blood:	n/a	n/a
43	POLR2A	chr9:115983171-115984138	GM12892	blood:	n/a	n/a
44	HMGN3	chr9:115983373-115984283	K562	blood:	n/a	n/a
45	TAF1	chr9:115983298-115984214	H1-hESC	embryonic stem cell:	n/a	n/a
46	MAZ	chr9:115982930-115984275	Hela-S3	cervix:	n/a	chr9:115983813-115983823
47	MAZ	chr9:115983131-115984170	GM12878	blood:	n/a	chr9:115983813-115983823
48	SIN3AK20	chr9:115983779-115984066	A549	lung:	n/a	n/a
49	ATF2	chr9:115983304-115984037	GM12878	blood:	n/a	chr9:115983730-115983741
50	POLR2A	chr9:115981373-115984128	GM12891	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:115983984-115984034	GM06990	blood:	n/a
2	chr9:115983984-115984034	BE2_C	brain:	n/a
3	chr9:115983984-115984034	AG10803	skin:	n/a
4	chr9:115983984-115984034	U87	brain:	n/a
5	chr9:115983984-115984034	SK-N-SH	brain:	n/a
6	chr9:115983984-115984034	SKMC	muscle:	n/a
7	chr9:115983984-115984034	HRE	kidney:	n/a
8	chr9:115983984-115984034	SK-N-SH_RA	brain:	n/a
9	chr9:115983984-115984034	NHDF-neo	bronchial:	n/a
10	chr9:115983984-115984034	AG09309	skin:	n/a
11	chr9:115983984-115984034	ovcar-3	ovarian:	n/a
12	chr9:115983984-115984034	Hepatocyte	liver:	n/a
13	chr9:115983984-115984034	GM19239	blood:	n/a
14	chr9:115983984-115984034	MCF10A-Er-Src	breast:	n/a
15	chr9:115983984-115984034	IMR90	lung:	fetal
16	chr9:115983984-115984034	ECC-1	luminal epithelium:	n/a
17	chr9:115983984-115984034	HIPEpiC	eye:	n/a
18	chr9:115983984-115984034	PFSK-1	brain:	n/a
19	chr9:115983984-115984034	SAEC	small airway:	n/a
20	chr9:115983984-115984034	T-47D	breast:	n/a
21	chr9:115983984-115984034	AoSMC	blood vessel:	n/a
22	chr9:115983984-115984034	HCT-116	colon:	n/a
23	chr9:115983984-115984034	NHBE	bronchial:	n/a
24	chr9:115983984-115984034	Hela-S3	cervix:	n/a
25	chr9:115983984-115984034	LNCaP	prostate:	n/a
26	chr9:115983984-115984034	K562	blood:	n/a
27	chr9:115983984-115984034	RPTEC	kidney:	n/a
28	chr9:115983984-115984034	H1-hESC	embryonic stem cell:	embryo
29	chr9:115983984-115984034	HPAEpiC	pulmonary alveolar:	n/a
30	chr9:115983984-115984034	CMK	blood:	n/a
31	chr9:115983984-115984034	GM12892	blood:	n/a
32	chr9:115983984-115984034	HCM	heart:	n/a
33	chr9:115983984-115984034	AG04449	skin:	fetal
34	chr9:115983984-115984034	NT2-D1	testis:	n/a
35	chr9:115983984-115984034	PANC-1	pancreas:	n/a
36	chr9:115983984-115984034	HCPEpiC	choroid plexus:	n/a
37	chr9:115983984-115984034	HRCEpiC	kidney:	n/a
38	chr9:115983984-115984034	SK-N-MC	brain:	n/a
39	chr9:115983984-115984034	HRPEpiC	eye:	n/a
40	chr9:115983984-115984034	NB4	blood:	n/a
41	chr9:115983984-115984034	MCF-7	breast:	n/a
42	chr9:115983984-115984034	GM12878	blood:	n/a
43	chr9:115983984-115984034	GM12891	blood:	n/a
44	chr9:115983984-115984034	HL-60	blood:	n/a
45	chr9:115983984-115984034	HEK293	kidney:	embryo
46	chr9:115983984-115984034	NH-A	brain:	n/a
47	chr9:115983984-115984034	HNPCEpiC	eye:	n/a
48	chr9:115983984-115984034	HAEpiC	amniotic membrane:	n/a
49	chr9:115983984-115984034	HEEpiC	esophagus:	n/a
50	chr9:115983984-115984034	BJ	skin:	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	chr9:115968725..115971196-chr9:115981878..115984279,2	MCF-7	breast:
5	chr9:115983607..115986374-chr9:116170251..116172763,3	MCF-7	breast:
6	chr9:115981852..115985156-chr9:116171660..116173942,3	MCF-7	breast:
7	chr9:115982263..115984734-chr9:116036359..116038354,4	MCF-7	breast:
8	chr9:115982005..115986983-chr9:116035777..116039702,5	K562	blood:
9	chr9:115983488..115985496-chr9:116035418..116038927,3	MCF-7	breast:

Variant related genes	Relation type
FKBP15	TF binding region
FKBP15	CpG island
ENSG00000270175	Chromatin interaction
ENSG00000139546	Chromatin interaction
ENSG00000148229	Chromatin interaction
ENSG00000157653	Chromatin interaction
ENSG00000119321	Chromatin interaction
ENSG00000176386	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	chr9:115982800-115984200	Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr9:115982800-115984200	Active TSS	Spleen	Spleen
31	chr9:115982800-115984200	Active TSS	Dnd41	blood
32	chr9:115982800-115984400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr9:115982800-115984400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr9:115982800-115984400	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr9:115982800-115984400	Active TSS	Gastric	stomach
36	chr9:115982800-115984400	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr9:115982800-115984400	Active TSS	HSMM	muscle
38	chr9:115982800-115984600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr9:115982800-115984600	Active TSS	Small Intestine	intestine
40	chr9:115982800-115984600	Active TSS	HMEC	breast
41	chr9:115982800-115984800	Active TSS	Fetal Intestine Large	intestine
42	chr9:115982800-115984800	Active TSS	Fetal Intestine Small	intestine
43	chr9:115982800-115985000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr9:115982800-115985000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr9:115982800-115985200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr9:115982800-115985200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr9:115982800-115985200	Active TSS	Lung	lung
48	chr9:115982800-115985200	Bivalent/Poised TSS	HepG2	liver
49	chr9:115983000-115984200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr9:115983000-115984200	Active TSS	Primary monocytes fromperipheralblood	blood

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