Variant report

Variant	rs371610565
Chromosome Location	chr9:86535548-86535549
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:225)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:225 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:86535500-86535790	A549	lung:	n/a	n/a
2	POLR2A	chr9:86535538-86536751	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr9:86535514-86536843	K562	blood:	n/a	n/a
4	CHD2	chr9:86535451-86536722	Hela-S3	cervix:	n/a	chr9:86536409-86536419
5	POLR2A	chr9:86535372-86536968	U87	brain:	n/a	n/a
6	MYC	chr9:86535535-86536750	K562	blood:	n/a	n/a
7	POLR2A	chr9:86535459-86536730	HepG2	liver:	n/a	n/a
8	POLR2A	chr9:86535458-86536733	Hela-S3	cervix:	n/a	n/a
9	E2F6	chr9:86535456-86536251	H1-hESC	embryonic stem cell:	n/a	chr9:86536098-86536108 chr9:86535550-86535561 chr9:86535547-86535564
10	CTCF	chr9:86535507-86536499	IMR90	lung:	n/a	chr9:86536408-86536421
11	MYC	chr9:86535264-86536063	H1-hESC	embryonic stem cell:	n/a	n/a
12	TCF7L2	chr9:86535531-86536678	HCT-116	colon:	n/a	n/a
13	POLR2A	chr9:86535410-86536759	Hela-S3	cervix:	n/a	n/a
14	NFIC	chr9:86535511-86536082	HepG2	liver:	n/a	n/a
15	RAD21	chr9:86535472-86535995	ECC-1	luminal epithelium:	n/a	n/a
16	RCOR1	chr9:86535430-86536730	K562	blood:	n/a	n/a
17	RCOR1	chr9:86535499-86536569	HepG2	liver:	n/a	n/a
18	ZNF143	chr9:86535528-86536901	GM12878	blood:	n/a	chr9:86536255-86536265 chr9:86536252-86536270
19	ARID3A	chr9:86535494-86536921	HepG2	liver:	n/a	n/a
20	NFIC	chr9:86535288-86536157	GM12878	blood:	n/a	n/a
21	PML	chr9:86535494-86535761	GM12878	blood:	n/a	n/a
22	MYBL2	chr9:86535387-86536144	HepG2	liver:	n/a	n/a
23	MAX	chr9:86535505-86536903	GM12878	blood:	n/a	n/a
24	MAFK	chr9:86535518-86535613	K562	blood:	n/a	n/a
25	HCFC1	chr9:86535260-86537083	Hela-S3	cervix:	n/a	n/a
26	MXI1	chr9:86535166-86537180	SK-N-SH	brain:	n/a	chr9:86536383-86536398
27	STAT3	chr9:86535280-86535673	MCF10A-Er-Src	breast:	n/a	chr9:86535451-86535459 chr9:86535448-86535462 chr9:86535445-86535465 chr9:86535449-86535460
28	CTCF	chr9:86535500-86535650	Caco-2	colon:	n/a	n/a
29	HEY1	chr9:86535288-86536699	HepG2	liver:	n/a	chr9:86536406-86536421
30	MAX	chr9:86535480-86536788	HepG2	liver:	n/a	n/a
31	CTCF	chr9:86535539-86535797	GM20000	blood:	n/a	n/a
32	POLR2A	chr9:86535436-86536773	GM12891	blood:	n/a	n/a
33	POLR2A	chr9:86535545-86536608	H1-neurons	neurons:	n/a	n/a
34	MAX	chr9:86535521-86536094	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr9:86535488-86536305	HepG2	liver:	n/a	n/a
36	POLR2A	chr9:86535482-86536782	HCT-116	colon:	n/a	n/a
37	TBP	chr9:86535351-86536737	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAZ	chr9:86535500-86536756	K562	blood:	n/a	n/a
39	POLR2A	chr9:86535244-86536983	Hela-S3	cervix:	n/a	n/a
40	MAX	chr9:86535280-86536891	A549	lung:	n/a	n/a
41	SIN3AK20	chr9:86535485-86536076	A549	lung:	n/a	n/a
42	RCOR1	chr9:86535453-86536073	GM12878	blood:	n/a	n/a
43	TAF7	chr9:86535506-86536206	K562	blood:	n/a	n/a
44	POLR2A	chr9:86535519-86536757	HUVEC	blood vessel:	n/a	n/a
45	MYC	chr9:86535386-86536908	NB4	blood:	n/a	n/a
46	RAD21	chr9:86535505-86536218	H1-hESC	embryonic stem cell:	n/a	n/a
47	TCF12	chr9:86535433-86536927	A549	lung:	n/a	n/a
48	POLR2A	chr9:86535508-86536713	K562	blood:	n/a	n/a
49	POLR2A	chr9:86535501-86536788	K562	blood:	n/a	n/a
50	STAT3	chr9:86535522-86535791	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:22 , 50 per page) page: 1

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:

No data

Variant related genes	Relation type
KIF27	TF binding region
ENSG00000136950	Chromatin interaction
ENSG00000254473	Chromatin interaction
ENSG00000135018	Chromatin interaction
ENSG00000178966	Chromatin interaction
ENSG00000165113	Chromatin interaction
ENSG00000197506	Chromatin interaction
ENSG00000148057	Chromatin interaction
ENSG00000165118	Chromatin interaction
ENSG00000165119	Chromatin interaction
ENSG00000165115	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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