Variant report

Variant	nsv909396
Chromosome Location	chr18:12058090-12078224
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:314)
CpG islands
(count:733)
Chromatin interactive
region (count:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr18:12076645-12076788	K562	blood:	n/a	n/a
2	CEBPB	chr18:12069020-12069213	IMR90	lung:	n/a	n/a
3	CEBPB	chr18:12067920-12068124	HepG2	liver:	n/a	n/a
4	CEBPB	chr18:12069057-12069324	K562	blood:	n/a	n/a
5	CEBPB	chr18:12067926-12068149	K562	blood:	n/a	n/a
6	CREB1	chr18:12076434-12076834	A549	lung:	n/a	n/a
7	CTCF	chr18:12068500-12068650	HUVEC	blood vessel:	n/a	n/a
8	CTCF	chr18:12074860-12075010	HRPEpiC	eye:	n/a	n/a
9	CTCF	chr18:12074880-12075030	GM12875	blood:	n/a	n/a
10	CTCF	chr18:12074754-12075101	GM12878	blood:	n/a	n/a
11	CTCF	chr18:12064512-12064580	MCF-7	breast:	n/a	n/a
12	CTCF	chr18:12074880-12075030	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr18:12074877-12074982	MCF-7	breast:	n/a	n/a
14	CTCF	chr18:12074858-12074993	SK-N-SH_RA	brain:	n/a	n/a
15	CTCF	chr18:12074793-12074998	K562	blood:	n/a	n/a
16	CTCF	chr18:12074820-12074970	AG04449	skin:	n/a	n/a
17	CTCF	chr18:12061555-12061727	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr18:12059170-12059251	GM13976	blood:	n/a	n/a
19	CTCF	chr18:12068520-12068670	GM12864	blood:	n/a	n/a
20	CTCF	chr18:12061471-12061715	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr18:12068365-12068712	K562	blood:	n/a	n/a
22	CTCF	chr18:12074840-12074990	HA-sp	spinal cord:	n/a	n/a
23	CTCF	chr18:12074830-12075012	GM19240	blood:	n/a	n/a
24	CTCF	chr18:12074880-12074950	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr18:12074820-12074970	HUVEC	blood vessel:	n/a	n/a
26	CTCF	chr18:12074860-12075010	GM12865	blood:	n/a	n/a
27	CTCF	chr18:12068422-12068749	K562	blood:	n/a	n/a
28	CTCF	chr18:12068419-12068723	IMR90	lung:	n/a	n/a
29	CTCF	chr18:12074860-12075010	HEEpiC	esophagus:	n/a	n/a
30	CTCF	chr18:12068460-12068610	K562	blood:	n/a	n/a
31	CTCF	chr18:12074840-12074990	HBMEC	blood vessel:	n/a	n/a
32	CTCF	chr18:12074860-12075010	HEK293	kidney:	n/a	n/a
33	CTCF	chr18:12074860-12075010	AG04449	skin:	n/a	n/a
34	CTCF	chr18:12074840-12074990	HCM	heart:	n/a	n/a
35	CTCF	chr18:12074780-12074930	HUVEC	blood vessel:	n/a	n/a
36	CTCF	chr18:12068420-12068570	HCT-116	colon:	n/a	n/a
37	CTCF	chr18:12064535-12064568	Fibrobl	skin:	n/a	n/a
38	CTCF	chr18:12074820-12074970	HA-sp	spinal cord:	n/a	n/a
39	CTCF	chr18:12074836-12074994	GM12891	blood:	n/a	n/a
40	CTCF	chr18:12074840-12074990	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr18:12068400-12068550	HCT-116	colon:	n/a	n/a
42	CTCF	chr18:12074860-12075010	HPAF	blood vessel:	n/a	n/a
43	CTCF	chr18:12074880-12075030	Caco-2	colon:	n/a	n/a
44	CTCF	chr18:12074860-12075010	AG09319	gingival:	n/a	n/a
45	CTCF	chr18:12068500-12068650	HPAF	blood vessel:	n/a	n/a
46	CTCF	chr18:12068500-12068650	HCFaa	heart:	n/a	n/a
47	CTCF	chr18:12074820-12074970	GM12873	blood:	n/a	n/a
48	CTCF	chr18:12074847-12075002	GM12892	blood:	n/a	n/a
49	CTCF	chr18:12068540-12068690	HPF	lung:	n/a	n/a
50	CTCF	chr18:12074860-12075010	GM12872	blood:	n/a	n/a

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:12068884-12068934	GM12878	blood:	n/a
2	chr18:12068884-12068934	GM12878	blood:	n/a
3	chr18:12076365-12076415	HCPEpiC	choroid plexus:	n/a
4	chr18:12072395-12072445	HUVEC	blood vessel:	n/a
5	chr18:12073455-12073505	ovcar-3	ovarian:	n/a
6	chr18:12068884-12068934	MCF10A-Er-Src	breast:	n/a
7	chr18:12072395-12072445	SKMC	muscle:	n/a
8	chr18:12073455-12073505	HCPEpiC	choroid plexus:	n/a
9	chr18:12068884-12068934	AG09319	gingival:	n/a
10	chr18:12077147-12077197	NHBE	bronchial:	n/a
11	chr18:12064388-12064438	GM12878	blood:	n/a
12	chr18:12068065-12068115	HIPEpiC	eye:	n/a
13	chr18:12068099-12068149	A549	lung:	n/a
14	chr18:12064388-12064438	HNPCEpiC	eye:	n/a
15	chr18:12077147-12077197	U87	brain:	n/a
16	chr18:12068363-12068413	NH-A	brain:	n/a
17	chr18:12068363-12068413	NHDF-neo	bronchial:	n/a
18	chr18:12076435-12076485	HIPEpiC	eye:	n/a
19	chr18:12067067-12067117	AG09319	gingival:	n/a
20	chr18:12068363-12068413	HCPEpiC	choroid plexus:	n/a
21	chr18:12068099-12068149	Jurkat	blood:	n/a
22	chr18:12068065-12068115	AG09319	gingival:	n/a
23	chr18:12068363-12068413	HNPCEpiC	eye:	n/a
24	chr18:12076365-12076415	NHDF-neo	bronchial:	n/a
25	chr18:12073455-12073505	T-47D	breast:	n/a
26	chr18:12068065-12068115	HEK293	kidney:	embryo
27	chr18:12068099-12068149	U87	brain:	n/a
28	chr18:12076365-12076415	PrEC	prostate:	n/a
29	chr18:12076435-12076485	NT2-D1	testis:	n/a
30	chr18:12077147-12077197	GM12891	blood:	n/a
31	chr18:12076476-12076526	U87	brain:	n/a
32	chr18:12068099-12068149	HCF	heart:	n/a
33	chr18:12068363-12068413	CMK	blood:	n/a
34	chr18:12068884-12068934	HAEpiC	amniotic membrane:	n/a
35	chr18:12076365-12076415	IMR90	lung:	fetal
36	chr18:12068363-12068413	GM12891	blood:	n/a
37	chr18:12076476-12076526	HCPEpiC	choroid plexus:	n/a
38	chr18:12068099-12068149	GM06990	blood:	n/a
39	chr18:12068884-12068934	NHDF-neo	bronchial:	n/a
40	chr18:12076435-12076485	Hela-S3	cervix:	n/a
41	chr18:12067067-12067117	HRE	kidney:	n/a
42	chr18:12068099-12068149	HRCEpiC	kidney:	n/a
43	chr18:12076365-12076415	HMEC	breast:	n/a
44	chr18:12077147-12077197	H1-hESC	embryonic stem cell:	embryo
45	chr18:12076435-12076485	BJ	skin:	n/a
46	chr18:12068065-12068115	SK-N-SH	brain:	n/a
47	chr18:12068065-12068115	IMR90	lung:	fetal
48	chr18:12068363-12068413	Hela-S3	cervix:	n/a
49	chr18:12072395-12072445	HNPCEpiC	eye:	n/a
50	chr18:12073455-12073505	LNCaP	prostate:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:12076450..12076959-chr4:22517248..22517778,2	HCT-116	colon:
2	chr18:12067124..12068644-chr19:18543710..18545856,2	K562	blood:
3	chr18:12067124..12068647-chr19:18543710..18545740,2	K562	blood:
4	chr18:12063010..12065990-chr19:13351067..13352603,2	MCF-7	breast:
5	chr18:12057151..12059400-chr18:12062481..12064510,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD62-1	chr18:12073319-12073537	XLOC_012628
2	lnc-ANKRD62-1	chr18:12074792-12075074	XLOC_012628

No data

Variant related genes	Relation type
ENSG00000267722	TF binding region
ENSG00000256616	TF binding region
ENSG00000267533	TF binding region
ENSG00000212712	TF binding region
ENSG00000267722	CpG island
ENSG00000256616	CpG island
ENSG00000267533	CpG island
ENSG00000212712	CpG island
ENSG00000212712	chromatin interactions
ENSG00000130511	chromatin interactions
ENSG00000152990	chromatin interactions

Extended variants
information (count: 891 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:891 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56379715	chr18:12058090-12058091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541196215	chr18:12058138-12058139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370634034	chr18:12058188-12058189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138220284	chr18:12058192-12058193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6505710	chr18:12058281-12058282	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs539353546	chr18:12058288-12058289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568785999	chr18:12058304-12058305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs80324150	chr18:12058310-12058311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74598715	chr18:12058316-12058317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186265422	chr18:12058356-12058357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572565018	chr18:12058470-12058471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543253089	chr18:12058511-12058512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190868585	chr18:12058520-12058521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73406529	chr18:12058555-12058556	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs77437515	chr18:12058563-12058564	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs564927467	chr18:12058569-12058570	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs532282357	chr18:12058589-12058590	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs182637289	chr18:12058623-12058624	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs4797616	chr18:12058646-12058647	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs559405080	chr18:12058656-12058657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529802090	chr18:12058659-12058660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547987213	chr18:12058662-12058663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567419031	chr18:12058737-12058738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143713698	chr18:12058780-12058781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549893224	chr18:12058781-12058782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147196224	chr18:12058800-12058801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148652635	chr18:12058813-12058814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568837578	chr18:12058820-12058821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142356559	chr18:12058882-12058883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150862829	chr18:12058886-12058887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536833730	chr18:12058905-12058906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139306069	chr18:12058924-12058925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4797617	chr18:12058938-12058939	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs543530734	chr18:12058942-12058943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373257725	chr18:12058959-12058960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528961439	chr18:12059009-12059010	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs375192525	chr18:12059015-12059016	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs558393477	chr18:12059057-12059058	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs188152994	chr18:12059084-12059085	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs73406533	chr18:12059086-12059087	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs529983680	chr18:12059106-12059107	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs568738686	chr18:12059118-12059119	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs541615213	chr18:12059246-12059247	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs539689259	chr18:12059277-12059278	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs73947227	chr18:12059298-12059299	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs531673004	chr18:12059324-12059325	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs550213457	chr18:12059333-12059334	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs369633662	chr18:12059334-12059335	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs532489593	chr18:12059348-12059349	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs371467150	chr18:12059353-12059354	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
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
Melanoma	18172304	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
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	20531469	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12049000-12060000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:12054200-12063400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr18:12055600-12076400	Weak transcription	Right Atrium	heart
4	chr18:12056400-12061600	Weak transcription	Spleen	Spleen
5	chr18:12058000-12059400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr18:12059400-12059800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr18:12059400-12059800	Enhancers	Lung	lung
8	chr18:12059800-12060200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr18:12059800-12060800	Enhancers	A549	lung
10	chr18:12060000-12060200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr18:12060000-12060600	Active TSS	Brain Angular Gyrus	brain
12	chr18:12060000-12060800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr18:12060000-12060800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr18:12060200-12061000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr18:12060800-12064400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr18:12061000-12062200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr18:12061600-12062000	Active TSS	Spleen	Spleen
18	chr18:12061800-12062000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr18:12062000-12064400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr18:12062000-12064400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr18:12062200-12064400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr18:12063000-12063200	Enhancers	Right Ventricle	heart
23	chr18:12063600-12064000	Enhancers	Fetal Muscle Trunk	muscle
24	chr18:12064400-12064600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr18:12064400-12064600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
26	chr18:12064400-12064800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr18:12064400-12064800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr18:12064400-12064800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr18:12064600-12064800	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr18:12064600-12067000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr18:12064800-12065000	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr18:12064800-12065400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr18:12065800-12066000	Enhancers	H9 Cell Line	embryonic stem cell
34	chr18:12066000-12076400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr18:12067000-12068600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr18:12067400-12068400	Enhancers	Fetal Muscle Trunk	muscle
37	chr18:12068000-12068600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr18:12068200-12068600	Active TSS	Pancreas	Pancrea
39	chr18:12068200-12068800	Active TSS	HUVEC	blood vessel
40	chr18:12068200-12069000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr18:12068600-12069200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr18:12068600-12076400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr18:12068800-12069000	Bivalent/Poised TSS	Osteobl	bone
44	chr18:12068800-12069200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr18:12068800-12069200	Enhancers	Fetal Lung	lung
46	chr18:12068800-12069200	Flanking Active TSS	HUVEC	blood vessel
47	chr18:12069000-12069200	Active TSS	Osteobl	bone
48	chr18:12069200-12069400	Enhancers	HUVEC	blood vessel
49	chr18:12069200-12071000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr18:12069400-12070600	Weak transcription	HUVEC	blood vessel

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