Variant report

Variant	esv13724
Chromosome Location	chr18:9614223-9614938
allele	n/a
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	BACH1	chr18:9614924-9615365	H1-hESC	embryonic stem cell:	n/a	n/a
2	BCLAF1	chr18:9613533-9614307	GM12878	blood:	n/a	chr18:9613942-9613955
3	BHLHE40	chr18:9614571-9614942	GM12878	blood:	n/a	chr18:9614847-9614863 chr18:9614823-9614839
4	CCNT2	chr18:9613769-9615322	K562	blood:	n/a	chr18:9615058-9615067 chr18:9615031-9615040
5	CEBPB	chr18:9614898-9615080	Hela-S3	cervix:	n/a	n/a
6	CEBPD	chr18:9614302-9615025	HepG2	liver:	n/a	n/a
7	CHD1	chr18:9614808-9615019	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD1	chr18:9613825-9614260	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD2	chr18:9614528-9614562	HepG2	liver:	n/a	n/a
10	CHD2	chr18:9614524-9615426	Hela-S3	cervix:	n/a	n/a
11	CHD2	chr18:9613665-9614293	Hela-S3	cervix:	n/a	n/a
12	CHD2	chr18:9613860-9614298	HepG2	liver:	n/a	n/a
13	CREB1	chr18:9614691-9615008	A549	lung:	n/a	n/a
14	CTCF	chr18:9614080-9614230	AG04450	lung:	n/a	chr18:9614097-9614110
15	CTCF	chr18:9614564-9614580	GM12878	blood:	n/a	n/a
16	CTCF	chr18:9614219-9614263	Fibrobl	skin:	n/a	n/a
17	CTCF	chr18:9613984-9614278	K562	blood:	n/a	chr18:9614097-9614110
18	CTCF	chr18:9614160-9614310	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr18:9614160-9614310	AoAF	blood vessel:	n/a	n/a
20	CTCF	chr18:9614140-9614290	NHEK	skin:	n/a	n/a
21	CTCF	chr18:9613919-9614233	GM12878	blood:	n/a	chr18:9614097-9614110
22	CTCF	chr18:9614140-9614290	HBMEC	blood vessel:	n/a	n/a
23	CTCF	chr18:9613847-9614354	K562	blood:	n/a	chr18:9614097-9614110
24	CTCFL	chr18:9613877-9614240	K562	blood:	n/a	n/a
25	E2F4	chr18:9613819-9615356	K562	blood:	n/a	chr18:9614442-9614452 chr18:9614041-9614055 chr18:9614834-9614843 chr18:9614846-9614856
26	E2F4	chr18:9614735-9614899	MCF10A-Er-Src	breast:	n/a	chr18:9614834-9614843 chr18:9614846-9614856
27	E2F6	chr18:9614441-9615424	K562	blood:	n/a	chr18:9614442-9614452 chr18:9614739-9614750 chr18:9614834-9614843 chr18:9614846-9614856
28	E2F6	chr18:9614862-9615604	H1-hESC	embryonic stem cell:	n/a	n/a
29	E2F6	chr18:9614599-9615556	K562	blood:	n/a	chr18:9614739-9614750 chr18:9614834-9614843 chr18:9614846-9614856
30	E2F6	chr18:9614648-9615087	K562	blood:	n/a	chr18:9614739-9614750 chr18:9614834-9614843 chr18:9614846-9614856
31	E2F6	chr18:9613948-9614305	K562	blood:	n/a	chr18:9614041-9614055
32	E2F6	chr18:9613998-9614307	K562	blood:	n/a	chr18:9614041-9614055
33	E2F6	chr18:9614859-9615441	A549	lung:	n/a	n/a
34	EBF1	chr18:9614759-9615432	GM12878	blood:	n/a	n/a
35	EGR1	chr18:9614333-9614670	K562	blood:	n/a	chr18:9614489-9614499 chr18:9614489-9614502
36	EGR1	chr18:9614321-9614655	K562	blood:	n/a	chr18:9614489-9614499 chr18:9614489-9614502
37	EGR1	chr18:9614693-9615352	K562	blood:	n/a	chr18:9615032-9615045 chr18:9614829-9614842 chr18:9615089-9615099
38	EGR1	chr18:9613844-9614268	K562	blood:	n/a	chr18:9614106-9614119
39	EGR1	chr18:9614724-9615409	K562	blood:	n/a	chr18:9615032-9615045 chr18:9614829-9614842 chr18:9615089-9615099
40	EGR1	chr18:9614723-9615314	H1-hESC	embryonic stem cell:	n/a	chr18:9615032-9615045 chr18:9614829-9614842 chr18:9615089-9615099
41	ELF1	chr18:9613840-9614243	K562	blood:	n/a	chr18:9613941-9613953
42	ELF1	chr18:9613848-9614264	GM12878	blood:	n/a	chr18:9613941-9613953
43	ELF1	chr18:9614332-9615373	K562	blood:	n/a	chr18:9614444-9614453 chr18:9615029-9615041
44	ELF1	chr18:9614692-9615324	K562	blood:	n/a	chr18:9615029-9615041
45	ELF1	chr18:9613823-9614224	K562	blood:	n/a	chr18:9613941-9613953
46	ELF1	chr18:9614701-9615405	GM12878	blood:	n/a	chr18:9615029-9615041
47	ELF1	chr18:9613597-9614604	GM12878	blood:	n/a	chr18:9614444-9614453 chr18:9613941-9613953
48	EP300	chr18:9614906-9615283	HepG2	liver:	n/a	chr18:9615142-9615158
49	ETS1	chr18:9614693-9614976	K562	blood:	n/a	n/a
50	ETS1	chr18:9614021-9614234	K562	blood:	n/a	chr18:9614064-9614073

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:9614450-9614500	AG10803	skin:	n/a
2	chr18:9614450-9614500	AG10803	skin:	n/a
3	chr18:9614206-9614256	HCM	heart:	n/a
4	chr18:9614206-9614256	MCF10A-Er-Src	breast:	n/a
5	chr18:9614450-9614500	NT2-D1	testis:	n/a
6	chr18:9614450-9614500	MCF10A-Er-Src	breast:	n/a
7	chr18:9614206-9614256	RPTEC	kidney:	n/a
8	chr18:9614206-9614256	Hepatocyte	liver:	n/a
9	chr18:9614206-9614256	SK-N-MC	brain:	n/a
10	chr18:9614450-9614500	SK-N-SH	brain:	n/a
11	chr18:9614206-9614256	SK-N-SH	brain:	n/a
12	chr18:9614206-9614256	HEK293	kidney:	embryo
13	chr18:9614450-9614500	HCT-116	colon:	n/a
14	chr18:9614206-9614256	HRCEpiC	kidney:	n/a
15	chr18:9614206-9614256	HIPEpiC	eye:	n/a
16	chr18:9614450-9614500	GM12892	blood:	n/a
17	chr18:9614450-9614500	HMEC	breast:	n/a
18	chr18:9614206-9614256	AoSMC	blood vessel:	n/a
19	chr18:9614206-9614256	H1-hESC	embryonic stem cell:	embryo
20	chr18:9614450-9614500	HepG2	liver:	n/a
21	chr18:9614206-9614256	NHDF-neo	bronchial:	n/a
22	chr18:9614450-9614500	ProgFib	skin:	n/a
23	chr18:9614206-9614256	AG10803	skin:	n/a
24	chr18:9614206-9614256	PFSK-1	brain:	n/a
25	chr18:9614450-9614500	GM12878	blood:	n/a
26	chr18:9614206-9614256	NH-A	brain:	n/a
27	chr18:9614206-9614256	GM12878	blood:	n/a
28	chr18:9614206-9614256	GM12891	blood:	n/a
29	chr18:9614450-9614500	HUVEC	blood vessel:	n/a
30	chr18:9614206-9614256	HCF	heart:	n/a
31	chr18:9614450-9614500	HEK293	kidney:	embryo
32	chr18:9614206-9614256	PANC-1	pancreas:	n/a
33	chr18:9614450-9614500	SK-N-SH_RA	brain:	n/a
34	chr18:9614450-9614500	ECC-1	luminal epithelium:	n/a
35	chr18:9614206-9614256	HPAEpiC	pulmonary alveolar:	n/a
36	chr18:9614450-9614500	T-47D	breast:	n/a
37	chr18:9614450-9614500	RPTEC	kidney:	n/a
38	chr18:9614450-9614500	Hela-S3	cervix:	n/a
39	chr18:9614206-9614256	HepG2	liver:	n/a
40	chr18:9614450-9614500	NH-A	brain:	n/a
41	chr18:9614206-9614256	HAEpiC	amniotic membrane:	n/a
42	chr18:9614206-9614256	BJ	skin:	n/a
43	chr18:9614206-9614256	HCT-116	colon:	n/a
44	chr18:9614450-9614500	IMR90	lung:	fetal
45	chr18:9614206-9614256	SAEC	small airway:	n/a
46	chr18:9614206-9614256	AG04450	lung:	fetal
47	chr18:9614206-9614256	GM12892	blood:	n/a
48	chr18:9614450-9614500	Jurkat	blood:	n/a
49	chr18:9614450-9614500	HRE	kidney:	n/a
50	chr18:9614206-9614256	NT2-D1	testis:	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:9612136..9615353-chr18:9912435..9915971,5	MCF-7	breast:
2	chr18:9612893..9615735-chr18:9913834..9918265,4	K562	blood:
3	chr18:9614922..9615897-chrX:48815132..48816087,2	Hela-S3	cervix:
4	chr18:9612544..9617098-chr18:9708301..9712595,6	MCF-7	breast:
5	chr1:28974882..28975858-chr18:9614139..9614753,2	Hela-S3	cervix:
6	chr18:9596087..9600746-chr18:9613522..9617540,6	MCF-7	breast:
7	chr18:9584254..9588034-chr18:9613364..9615601,3	MCF-7	breast:
8	chr15:66994774..66995660-chr18:9613961..9614955,2	Hela-S3	cervix:
9	chr18:9613016..9616228-chr18:9911513..9913644,4	K562	blood:
10	chr18:9611182..9615699-chr18:9705314..9711194,13	MCF-7	breast:
11	chr18:9593651..9596050-chr18:9613258..9616024,2	MCF-7	breast:
12	chr18:9474922..9476536-chr18:9613527..9616238,2	MCF-7	breast:
13	chr18:9614624..9617257-chr18:9707449..9709089,2	K562	blood:
14	chr18:9613570..9616156-chr18:9878427..9881071,2	K562	blood:
15	chr18:9614449..9616140-chr18:9677968..9679576,2	K562	blood:
16	chr18:9613618..9614587-chr22:31686737..31687476,2	Hela-S3	cervix:
17	chr18:9614482..9616420-chr18:9617986..9621274,5	K562	blood:
18	chr18:9569658..9574401-chr18:9612462..9616455,5	K562	blood:
19	chr18:9614430..9615143-chr19:1249294..1250146,2	Hela-S3	cervix:
20	chr18:9594858..9597558-chr18:9614248..9616397,2	MCF-7	breast:
21	chr18:9613045..9616469-chr18:9913547..9915707,4	K562	blood:
22	chr17:57970172..57971882-chr18:9614484..9616129,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PIEZO2-14	chr18:9614224-9614272	NONHSAT057228
2	lnc-RALBP1-2	chr18:9614694-9615333	NONHSAT057230

Variant related genes	Relation type
ENSG00000263627	TF binding region
PPP4R1	TF binding region
ENSG00000263627	CpG island
PPP4R1	CpG island
ENSG00000265564	chromatin interactions
ENSG00000212572	chromatin interactions
ENSG00000270103	chromatin interactions
ENSG00000108443	chromatin interactions
ENSG00000017797	chromatin interactions
ENSG00000264644	chromatin interactions
ENSG00000137834	chromatin interactions
ENSG00000100100	chromatin interactions
ENSG00000068308	chromatin interactions
ENSG00000108423	chromatin interactions
ENSG00000266541	chromatin interactions
ENSG00000154845	chromatin interactions
ENSG00000101558	chromatin interactions
ENSG00000168461	chromatin interactions
ENSG00000167470	chromatin interactions
ENSG00000272799	chromatin interactions

Extended variants
information (count: 8 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368991458	chr18:9614298-9614299	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
2	rs28461902	chr18:9614332-9614333	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
3	rs532576735	chr18:9614333-9614334	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
4	rs199537124	chr18:9614594-9614595	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
5	rs545123424	chr18:9614707-9614708	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
6	rs77036092	chr18:9614730-9614731	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
7	rs143264046	chr18:9614885-9614886	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
8	rs527335206	chr18:9614887-9614888	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Breast cancer	21785460	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9612000-9615000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr18:9612200-9615200	Active TSS	NHLF	lung
3	chr18:9612400-9614800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr18:9612400-9615200	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr18:9612400-9615200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr18:9612400-9615200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr18:9612400-9615400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr18:9612400-9615800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr18:9612600-9615200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr18:9612600-9615200	Active TSS	HMEC	breast
11	chr18:9612600-9615400	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr18:9612600-9615400	Active TSS	Ovary	ovary
13	chr18:9612600-9615600	Active TSS	Right Ventricle	heart
14	chr18:9612600-9615800	Active TSS	Aorta	Aorta
15	chr18:9612800-9615000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr18:9612800-9615200	Active TSS	Fetal Muscle Leg	muscle
17	chr18:9612800-9615200	Active TSS	HSMM	muscle
18	chr18:9612800-9615200	Active TSS	HSMMtube	muscle
19	chr18:9612800-9615200	Active TSS	NHDF-Ad	bronchial
20	chr18:9612800-9615400	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr18:9612800-9615400	Active TSS	A549	lung
22	chr18:9612800-9615600	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr18:9613000-9615200	Active TSS	H1 Cell Line	embryonic stem cell
24	chr18:9613000-9615200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr18:9613000-9615200	Active TSS	Fetal Stomach	stomach
26	chr18:9613000-9615400	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr18:9613000-9615600	Active TSS	Fetal Brain Female	brain
28	chr18:9613200-9615000	Active TSS	K562	blood
29	chr18:9613200-9615200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr18:9613200-9615200	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr18:9613200-9615200	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr18:9613200-9615200	Active TSS	Brain Cingulate Gyrus	brain
33	chr18:9613200-9615200	Active TSS	Brain Hippocampus Middle	brain
34	chr18:9613200-9615200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr18:9613200-9615200	Active TSS	Brain Substantia Nigra	brain
36	chr18:9613200-9615200	Active TSS	Colonic Mucosa	Colon
37	chr18:9613200-9615200	Active TSS	Fetal Intestine Small	intestine
38	chr18:9613200-9615200	Active TSS	Placenta	Placenta
39	chr18:9613200-9615200	Active TSS	Fetal Thymus	thymus
40	chr18:9613200-9615200	Active TSS	Stomach Smooth Muscle	stomach
41	chr18:9613200-9615200	Active TSS	NHEK	skin
42	chr18:9613200-9615400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr18:9613200-9615400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr18:9613200-9615400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr18:9613200-9615400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr18:9613200-9615400	Active TSS	Colon Smooth Muscle	Colon
47	chr18:9613200-9615400	Active TSS	Fetal Intestine Large	intestine
48	chr18:9613200-9615600	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr18:9613400-9615000	Active TSS	Muscle Satellite Cultured Cells	--
50	chr18:9613400-9615000	Active TSS	Fetal Muscle Trunk	muscle

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