Variant report

Variant	rs368340276
Chromosome Location	chr9:86535479-86535480
allele	G/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	CHD2	chr9:86535451-86536722	Hela-S3	cervix:	n/a	chr9:86536409-86536419
2	POLR2A	chr9:86535372-86536968	U87	brain:	n/a	n/a
3	POLR2A	chr9:86535459-86536730	HepG2	liver:	n/a	n/a
4	POLR2A	chr9:86535458-86536733	Hela-S3	cervix:	n/a	n/a
5	E2F6	chr9:86535456-86536251	H1-hESC	embryonic stem cell:	n/a	chr9:86536098-86536108 chr9:86535550-86535561 chr9:86535547-86535564
6	MYC	chr9:86535264-86536063	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr9:86535410-86536759	Hela-S3	cervix:	n/a	n/a
8	RAD21	chr9:86535472-86535995	ECC-1	luminal epithelium:	n/a	n/a
9	RCOR1	chr9:86535430-86536730	K562	blood:	n/a	n/a
10	NFIC	chr9:86535288-86536157	GM12878	blood:	n/a	n/a
11	MYBL2	chr9:86535387-86536144	HepG2	liver:	n/a	n/a
12	HCFC1	chr9:86535260-86537083	Hela-S3	cervix:	n/a	n/a
13	MXI1	chr9:86535166-86537180	SK-N-SH	brain:	n/a	chr9:86536383-86536398
14	STAT3	chr9:86535280-86535673	MCF10A-Er-Src	breast:	n/a	chr9:86535451-86535459 chr9:86535448-86535462 chr9:86535445-86535465 chr9:86535449-86535460
15	HEY1	chr9:86535288-86536699	HepG2	liver:	n/a	chr9:86536406-86536421
16	POLR2A	chr9:86535436-86536773	GM12891	blood:	n/a	n/a
17	TBP	chr9:86535351-86536737	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr9:86535244-86536983	Hela-S3	cervix:	n/a	n/a
19	MAX	chr9:86535280-86536891	A549	lung:	n/a	n/a
20	RCOR1	chr9:86535453-86536073	GM12878	blood:	n/a	n/a
21	MYC	chr9:86535386-86536908	NB4	blood:	n/a	n/a
22	TCF12	chr9:86535433-86536927	A549	lung:	n/a	n/a
23	POLR2A	chr9:86535408-86536845	SK-N-SH	brain:	n/a	n/a
24	ZNF143	chr9:86535351-86536539	H1-hESC	embryonic stem cell:	n/a	chr9:86536255-86536265 chr9:86536252-86536270
25	ATF2	chr9:86535464-86536111	H1-hESC	embryonic stem cell:	n/a	n/a
26	SIN3AK20	chr9:86535391-86536877	HCT-116	colon:	n/a	n/a
27	CTCF	chr9:86535375-86536193	HCT-116	colon:	n/a	n/a
28	POLR2A	chr9:86535452-86536871	K562	blood:	n/a	n/a
29	JUND	chr9:86535413-86536752	H1-hESC	embryonic stem cell:	n/a	chr9:86536407-86536416
30	TEAD4	chr9:86535332-86536046	HepG2	liver:	n/a	n/a
31	MAX	chr9:86535283-86536750	A549	lung:	n/a	n/a
32	CTCF	chr9:86535463-86536083	A549	lung:	n/a	n/a
33	MAZ	chr9:86535471-86536744	GM12878	blood:	n/a	n/a
34	RUNX3	chr9:86535449-86536072	GM12878	blood:	n/a	n/a
35	SP1	chr9:86535478-86536803	A549	lung:	n/a	chr9:86536447-86536456 chr9:86536446-86536457 chr9:86536446-86536458 chr9:86536141-86536155 chr9:86536447-86536457 chr9:86536404-86536415 chr9:86536059-86536073 chr9:86536447-86536456 chr9:86536448-86536457 chr9:86536447-86536457 chr9:86536447-86536461 chr9:86536446-86536458 chr9:86536464-86536474
36	MAZ	chr9:86535314-86536885	IMR90	lung:	n/a	n/a
37	POLR2A	chr9:86535352-86536872	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr9:86535470-86536874	K562	blood:	n/a	n/a
39	RAD21	chr9:86535451-86535942	A549	lung:	n/a	n/a
40	HCFC1	chr9:86535395-86536733	K562	blood:	n/a	n/a
41	CTCF	chr9:86535091-86537031	A549	lung:	n/a	chr9:86536408-86536421
42	MTA3	chr9:86535457-86536175	GM12878	blood:	n/a	n/a
43	CREB1	chr9:86535474-86536671	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr9:86535367-86536912	GM12892	blood:	n/a	n/a
45	CTCF	chr9:86535458-86536075	MCF-7	breast:	n/a	n/a
46	MAX	chr9:86535435-86536795	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr9:86535270-86536818	Hela-S3	cervix:	n/a	n/a
48	RAD21	chr9:86535459-86536460	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr9:86535213-86536878	H1-hESC	embryonic stem cell:	n/a	n/a
50	MYC	chr9:86535085-86536114	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:86236616..86242493-chr9:86533666..86537484,7	MCF-7	breast:
2	chr9:86237285..86238795-chr9:86535469..86537545,2	K562	blood:
3	chr9:86533247..86537973-chr9:86593370..86597981,20	MCF-7	breast:
4	chr9:86431003..86433746-chr9:86534377..86536332,2	K562	blood:
5	chr9:86535234..86536021-chr9:86875727..86876675,2	MCF-7	breast:
6	chr9:86321176..86323111-chr9:86534764..86537575,5	MCF-7	breast:
7	chr9:86534503..86538702-chr9:86568820..86574555,7	MCF-7	breast:
8	chr9:86535347..86536164-chr9:86929967..86930640,3	MCF-7	breast:
9	chr9:86237271..86239294-chr9:86534482..86537409,3	MCF-7	breast:
10	chr9:86533593..86537892-chr9:86593047..86598677,10	K562	blood:
11	chr9:86534520..86537940-chr9:86592614..86595774,6	K562	blood:
12	chr9:86430622..86432919-chr9:86535075..86537489,2	MCF-7	breast:
13	chr9:86534003..86537844-chr9:86570557..86574103,8	K562	blood:
14	chr9:86534814..86537259-chr9:86954011..86956598,2	MCF-7	breast:
15	chr9:86531254..86532896-chr9:86534357..86536311,2	MCF-7	breast:
16	chr9:86535076..86537991-chr9:86590146..86593000,2	K562	blood:
17	chr9:86321510..86324086-chr9:86534187..86535894,2	K562	blood:
18	chr9:86529939..86532744-chr9:86534062..86535993,2	MCF-7	breast:
19	chr9:86533979..86537502-chr9:86594012..86596999,11	MCF-7	breast:
20	chr9:86535411..86537432-chr9:127629716..127632471,2	MCF-7	breast:
21	chr9:86534561..86538164-chr9:86570673..86573880,3	K562	blood:
22	chr9:86321248..86324502-chr9:86534491..86537588,5	MCF-7	breast:

Variant related genes	Relation type
KIF27	TF binding region
ENSG00000178966	Chromatin interaction
ENSG00000148057	Chromatin interaction
ENSG00000165118	Chromatin interaction
ENSG00000165119	Chromatin interaction
ENSG00000165115	Chromatin interaction
ENSG00000254473	Chromatin interaction
ENSG00000135018	Chromatin interaction
ENSG00000197506	Chromatin interaction
ENSG00000165113	Chromatin interaction
ENSG00000136950	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86481000-86535800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr9:86500200-86535600	Weak transcription	Lung	lung
3	chr9:86508200-86535600	Weak transcription	Esophagus	oesophagus
4	chr9:86525600-86535600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:86525600-86535600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr9:86535000-86535600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr9:86535000-86535600	Flanking Active TSS	Fetal Lung	lung
8	chr9:86535000-86535600	Flanking Active TSS	GM12878-XiMat	blood
9	chr9:86535000-86535800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr9:86535000-86535800	Enhancers	Small Intestine	intestine
11	chr9:86535000-86535800	Flanking Active TSS	Dnd41	blood
12	chr9:86535000-86536400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:86535000-86536600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:86535000-86536800	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr9:86535000-86537000	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr9:86535200-86535600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr9:86535200-86535600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr9:86535200-86535600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr9:86535200-86535600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr9:86535200-86535600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr9:86535200-86535600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr9:86535200-86535600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr9:86535200-86535600	Flanking Active TSS	Brain Angular Gyrus	brain
24	chr9:86535200-86535600	Flanking Active TSS	Brain Anterior Caudate	brain
25	chr9:86535200-86535600	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr9:86535200-86535600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr9:86535200-86535600	Flanking Active TSS	Fetal Intestine Large	intestine
28	chr9:86535200-86535600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr9:86535200-86535600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr9:86535200-86535600	Flanking Active TSS	Hela-S3	cervix
31	chr9:86535200-86535600	Flanking Active TSS	HepG2	liver
32	chr9:86535200-86535600	Flanking Active TSS	HMEC	breast
33	chr9:86535200-86535600	Flanking Active TSS	HSMMtube	muscle
34	chr9:86535200-86535600	Flanking Active TSS	NHDF-Ad	bronchial
35	chr9:86535200-86535600	Flanking Active TSS	NHEK	skin
36	chr9:86535200-86535600	Flanking Active TSS	NHLF	lung
37	chr9:86535200-86535800	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr9:86535200-86535800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr9:86535200-86535800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr9:86535200-86535800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr9:86535200-86535800	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr9:86535200-86535800	Flanking Active TSS	HUVEC	blood vessel
43	chr9:86535200-86535800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr9:86535200-86535800	Flanking Active TSS	NH-A	brain
45	chr9:86535200-86535800	Flanking Active TSS	Osteobl	bone
46	chr9:86535200-86536000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr9:86535200-86536600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr9:86535200-86536600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr9:86535200-86536800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr9:86535200-86536800	Active TSS	iPS-20b Cell Line	embryonic stem cell

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