Variant report

Variant	rs374267503
Chromosome Location	chr9:86535391-86535392
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	POLR2A	chr9:86535372-86536968	U87	brain:	n/a	n/a
2	MYC	chr9:86535264-86536063	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr9:86535379-86535433	GM10248	blood:	n/a	n/a
4	NFIC	chr9:86535288-86536157	GM12878	blood:	n/a	n/a
5	MYBL2	chr9:86535387-86536144	HepG2	liver:	n/a	n/a
6	HCFC1	chr9:86535260-86537083	Hela-S3	cervix:	n/a	n/a
7	MXI1	chr9:86535166-86537180	SK-N-SH	brain:	n/a	chr9:86536383-86536398
8	STAT3	chr9:86535280-86535673	MCF10A-Er-Src	breast:	n/a	chr9:86535451-86535459 chr9:86535448-86535462 chr9:86535445-86535465 chr9:86535449-86535460
9	HEY1	chr9:86535288-86536699	HepG2	liver:	n/a	chr9:86536406-86536421
10	TBP	chr9:86535351-86536737	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr9:86535244-86536983	Hela-S3	cervix:	n/a	n/a
12	MAX	chr9:86535280-86536891	A549	lung:	n/a	n/a
13	MYC	chr9:86535386-86536908	NB4	blood:	n/a	n/a
14	ZNF143	chr9:86535351-86536539	H1-hESC	embryonic stem cell:	n/a	chr9:86536255-86536265 chr9:86536252-86536270
15	SIN3AK20	chr9:86535391-86536877	HCT-116	colon:	n/a	n/a
16	CTCF	chr9:86535375-86536193	HCT-116	colon:	n/a	n/a
17	TEAD4	chr9:86535332-86536046	HepG2	liver:	n/a	n/a
18	MAX	chr9:86535283-86536750	A549	lung:	n/a	n/a
19	STAT3	chr9:86535272-86535472	MCF10A-Er-Src	breast:	n/a	chr9:86535451-86535459 chr9:86535448-86535462 chr9:86535445-86535465 chr9:86535449-86535460
20	MAZ	chr9:86535314-86536885	IMR90	lung:	n/a	n/a
21	POLR2A	chr9:86535352-86536872	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr9:86535091-86537031	A549	lung:	n/a	chr9:86536408-86536421
23	POLR2A	chr9:86535367-86536912	GM12892	blood:	n/a	n/a
24	POLR2A	chr9:86535270-86536818	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr9:86535213-86536878	H1-hESC	embryonic stem cell:	n/a	n/a
26	MYC	chr9:86535085-86536114	A549	lung:	n/a	n/a
27	POLR2A	chr9:86535311-86536144	GM12878	blood:	n/a	n/a
28	POLR2A	chr9:86535304-86536062	HepG2	liver:	n/a	n/a
29	POLR2A	chr9:86535365-86536900	GM12878	blood:	n/a	n/a
30	MTA3	chr9:86535290-86537120	GM12878	blood:	n/a	n/a
31	TEAD4	chr9:86535365-86536173	K562	blood:	n/a	n/a
32	SIN3AK20	chr9:86535324-86536980	MCF-7	breast:	n/a	n/a
33	ZNF143	chr9:86535356-86536648	Hela-S3	cervix:	n/a	chr9:86536255-86536265 chr9:86536252-86536270
34	POLR2A	chr9:86535378-86536962	U87	brain:	n/a	n/a
35	POLR2A	chr9:86535374-86536906	PFSK-1	brain:	n/a	n/a
36	ATF2	chr9:86535356-86536066	GM12878	blood:	n/a	n/a
37	POLR2A	chr9:86534762-86536930	MCF10A-Er-Src	breast:	n/a	n/a
38	TBP	chr9:86535318-86536722	HepG2	liver:	n/a	n/a
39	POLR2A	chr9:86532204-86536815	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr9:86535263-86537155	HepG2	liver:	n/a	n/a
41	MAX	chr9:86535353-86536894	HCT-116	colon:	n/a	n/a
42	POLR2A	chr9:86535305-86536884	HepG2	liver:	n/a	n/a
43	POLR2A	chr9:86535337-86536999	GM12891	blood:	n/a	n/a
44	STAT3	chr9:86535273-86535472	MCF10A-Er-Src	breast:	n/a	chr9:86535451-86535459 chr9:86535448-86535462 chr9:86535445-86535465 chr9:86535449-86535460
45	CBX3	chr9:86535301-86536803	HCT-116	colon:	n/a	n/a
46	MYC	chr9:86535303-86535881	MCF10A-Er-Src	breast:	n/a	n/a
47	CHD1	chr9:86535218-86537043	IMR90	lung:	n/a	chr9:86536409-86536419
48	POLR2A	chr9:86535353-86536854	H1-hESC	embryonic stem cell:	n/a	n/a
49	PML	chr9:86535346-86536994	GM12878	blood:	n/a	n/a
50	CTCF	chr9:86535306-86537139	SK-N-SH	brain:	n/a	chr9:86536408-86536421

No.	Distal block	Cell Line	Cell type
1	chr9:86236616..86242493-chr9:86533666..86537484,7	MCF-7	breast:
2	chr9:86533247..86537973-chr9:86593370..86597981,20	MCF-7	breast:
3	chr9:86431003..86433746-chr9:86534377..86536332,2	K562	blood:
4	chr9:86535234..86536021-chr9:86875727..86876675,2	MCF-7	breast:
5	chr9:86321176..86323111-chr9:86534764..86537575,5	MCF-7	breast:
6	chr9:86534503..86538702-chr9:86568820..86574555,7	MCF-7	breast:
7	chr9:86535347..86536164-chr9:86929967..86930640,3	MCF-7	breast:
8	chr9:86237271..86239294-chr9:86534482..86537409,3	MCF-7	breast:
9	chr9:86533593..86537892-chr9:86593047..86598677,10	K562	blood:
10	chr9:86534520..86537940-chr9:86592614..86595774,6	K562	blood:
11	chr9:86430622..86432919-chr9:86535075..86537489,2	MCF-7	breast:
12	chr9:86534003..86537844-chr9:86570557..86574103,8	K562	blood:
13	chr9:86534814..86537259-chr9:86954011..86956598,2	MCF-7	breast:
14	chr9:86531254..86532896-chr9:86534357..86536311,2	MCF-7	breast:
15	chr9:86535076..86537991-chr9:86590146..86593000,2	K562	blood:
16	chr9:86321510..86324086-chr9:86534187..86535894,2	K562	blood:
17	chr9:86529939..86532744-chr9:86534062..86535993,2	MCF-7	breast:
18	chr9:86533979..86537502-chr9:86594012..86596999,11	MCF-7	breast:
19	chr9:86534561..86538164-chr9:86570673..86573880,3	K562	blood:
20	chr9:86321248..86324502-chr9:86534491..86537588,5	MCF-7	breast:

Variant related genes	Relation type
KIF27	TF binding region
ENSG00000165115	Chromatin interaction
ENSG00000148057	Chromatin interaction
ENSG00000178966	Chromatin interaction
ENSG00000254473	Chromatin interaction
ENSG00000165119	Chromatin interaction
ENSG00000197506	Chromatin interaction
ENSG00000165113	Chromatin interaction
ENSG00000165118	Chromatin interaction
ENSG00000135018	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469859	chr9:86398152-86587957	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv482641	chr9:86398152-86587957	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv2758192	chr9:86414024-86603602	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2759701	chr9:86414024-86603602	Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv8541	chr9:86469723-86593758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv438108	chr9:86488586-86542206	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
7	nsv831644	chr9:86534310-86704395	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86461600-86535400	Weak transcription	Fetal Intestine Small	intestine
2	chr9:86461600-86535400	Weak transcription	Ovary	ovary
3	chr9:86481000-86535800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr9:86500200-86535600	Weak transcription	Lung	lung
5	chr9:86508200-86535600	Weak transcription	Esophagus	oesophagus
6	chr9:86512400-86535400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr9:86512600-86535400	Weak transcription	Placenta	Placenta
8	chr9:86519000-86535400	Weak transcription	Fetal Stomach	stomach
9	chr9:86520400-86535400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr9:86525600-86535600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr9:86525600-86535600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr9:86531600-86535400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr9:86532800-86535400	Weak transcription	Psoas Muscle	Psoas
14	chr9:86533200-86535400	Weak transcription	HSMM	muscle
15	chr9:86534600-86535400	Enhancers	Fetal Brain Male	brain
16	chr9:86534800-86535400	Enhancers	Primary T cells fromperipheralblood	blood
17	chr9:86534800-86535400	Enhancers	Pancreas	Pancrea
18	chr9:86535000-86535400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr9:86535000-86535400	Enhancers	Primary B cells from cord blood	blood
20	chr9:86535000-86535400	Enhancers	Primary T cells from cord blood	blood
21	chr9:86535000-86535400	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr9:86535000-86535400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr9:86535000-86535400	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr9:86535000-86535400	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr9:86535000-86535400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr9:86535000-86535400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr9:86535000-86535400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr9:86535000-86535400	Enhancers	Liver	Liver
29	chr9:86535000-86535400	Enhancers	Colon Smooth Muscle	Colon
30	chr9:86535000-86535400	Enhancers	Fetal Heart	heart
31	chr9:86535000-86535400	Enhancers	Fetal Muscle Leg	muscle
32	chr9:86535000-86535400	Enhancers	Fetal Thymus	thymus
33	chr9:86535000-86535600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr9:86535000-86535600	Flanking Active TSS	Fetal Lung	lung
35	chr9:86535000-86535600	Flanking Active TSS	GM12878-XiMat	blood
36	chr9:86535000-86535800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr9:86535000-86535800	Enhancers	Small Intestine	intestine
38	chr9:86535000-86535800	Flanking Active TSS	Dnd41	blood
39	chr9:86535000-86536400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr9:86535000-86536600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr9:86535000-86536800	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr9:86535000-86537000	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr9:86535200-86535400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr9:86535200-86535400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr9:86535200-86535400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr9:86535200-86535400	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr9:86535200-86535400	Enhancers	Primary B cells from peripheral blood	blood
48	chr9:86535200-86535400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr9:86535200-86535400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr9:86535200-86535400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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