Variant report

Variant	nsv960218
Chromosome Location	chr18:14897850-14928912
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	ARID3A	chr18:14919804-14920000	HepG2	liver:	n/a	n/a
2	BHLHE40	chr18:14919900-14920096	K562	blood:	n/a	n/a
3	CTCF	chr18:14921769-14921819	LNCaP	prostate:	n/a	n/a
4	CTCF	chr18:14922121-14922338	MCF-7	breast:	n/a	n/a
5	CTCF	chr18:14922180-14922330	MCF-7	breast:	n/a	n/a
6	CTCF	chr18:14922220-14922370	HEK293	kidney:	n/a	n/a
7	CTCF	chr18:14922106-14922362	MCF-7	breast:	n/a	n/a
8	CTCF	chr18:14922217-14922278	ProgFib	skin:	n/a	n/a
9	CTCF	chr18:14923776-14923828	GM20000	blood:	n/a	n/a
10	CTCF	chr18:14922160-14922310	HEK293	kidney:	n/a	n/a
11	CTCF	chr18:14915120-14915270	AG10803	skin:	n/a	n/a
12	CTCF	chr18:14915040-14915165	ProgFib	skin:	n/a	n/a
13	CTCF	chr18:14922117-14922340	MCF-7	breast:	n/a	n/a
14	CTCF	chr18:14919880-14920030	GM12871	blood:	n/a	n/a
15	CTCF	chr18:14922203-14922244	LNCaP	prostate:	n/a	n/a
16	CTCF	chr18:14922129-14922329	MCF-7	breast:	n/a	n/a
17	CTCF	chr18:14922100-14922250	AG09319	gingival:	n/a	n/a
18	CTCF	chr18:14922240-14922390	MCF-7	breast:	n/a	n/a
19	CTCF	chr18:14922185-14922275	Gliobla	brain:	n/a	n/a
20	CTCF	chr18:14922186-14922283	LNCaP	prostate:	n/a	n/a
21	CTCF	chr18:14922122-14922412	MCF-7	breast:	n/a	n/a
22	CTCF	chr18:14922144-14922314	MCF-7	breast:	n/a	n/a
23	CTCF	chr18:14915040-14915190	HEK293	kidney:	n/a	n/a
24	CTCF	chr18:14922286-14922288	LNCaP	prostate:	n/a	n/a
25	CTCF	chr18:14921929-14922390	MCF-7	breast:	n/a	n/a
26	ELK1	chr18:14924779-14924822	Hela-S3	cervix:	n/a	n/a
27	EP300	chr18:14921501-14922039	T-47D	breast:	n/a	chr18:14921558-14921572 chr18:14921557-14921571
28	EP300	chr18:14911611-14911890	K562	blood:	n/a	n/a
29	EP300	chr18:14921567-14921966	T-47D	breast:	n/a	n/a
30	FOS	chr18:14924192-14924555	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr18:14924183-14924563	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr18:14924209-14924553	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr18:14924152-14924568	MCF10A-Er-Src	breast:	n/a	n/a
34	FOXA1	chr18:14921434-14921957	T-47D	breast:	n/a	chr18:14921716-14921731
35	FOXA1	chr18:14919835-14920106	HepG2	liver:	n/a	n/a
36	FOXA1	chr18:14921494-14921863	T-47D	breast:	n/a	chr18:14921716-14921731
37	GATA3	chr18:14928354-14928692	T-47D	breast:	n/a	n/a
38	GATA3	chr18:14928197-14928849	MCF-7	breast:	n/a	n/a
39	GATA3	chr18:14928383-14928998	MCF-7	breast:	n/a	n/a
40	GATA3	chr18:14921484-14921981	T-47D	breast:	n/a	n/a
41	GATA3	chr18:14921584-14921988	T-47D	breast:	n/a	n/a
42	GATA3	chr18:14928349-14928738	T-47D	breast:	n/a	n/a
43	GATA3	chr18:14922088-14922480	MCF-7	breast:	n/a	n/a
44	GATA3	chr18:14928335-14928785	MCF-7	breast:	n/a	n/a
45	GTF2F1	chr18:14908321-14908417	K562	blood:	n/a	n/a
46	HDAC2	chr18:14928390-14928750	MCF-7	breast:	n/a	n/a
47	HNF4A	chr18:14919709-14920103	HepG2	liver:	n/a	chr18:14919902-14919917 chr18:14919904-14919916 chr18:14919903-14919918 chr18:14919904-14919916 chr18:14919909-14919917 chr18:14919904-14919916 chr18:14919903-14919916 chr18:14919903-14919916 chr18:14919903-14919918 chr18:14919904-14919917 chr18:14919905-14919917 chr18:14919903-14919918 chr18:14919901-14919919 chr18:14919903-14919916 chr18:14919903-14919917 chr18:14919904-14919916 chr18:14919903-14919918
48	HNF4A	chr18:14919727-14920081	HepG2	liver:	n/a	chr18:14919902-14919917 chr18:14919904-14919916 chr18:14919903-14919918 chr18:14919904-14919916 chr18:14919909-14919917 chr18:14919904-14919916 chr18:14919903-14919916 chr18:14919903-14919916 chr18:14919903-14919918 chr18:14919904-14919917 chr18:14919905-14919917 chr18:14919903-14919918 chr18:14919901-14919919 chr18:14919903-14919916 chr18:14919903-14919917 chr18:14919904-14919916 chr18:14919903-14919918
49	HNF4G	chr18:14919673-14920144	HepG2	liver:	n/a	chr18:14919904-14919916 chr18:14919903-14919918 chr18:14919904-14919916 chr18:14919909-14919917 chr18:14919904-14919916 chr18:14919903-14919916 chr18:14919903-14919916 chr18:14919903-14919918 chr18:14919901-14919916 chr18:14919904-14919917 chr18:14919905-14919917 chr18:14919903-14919918 chr18:14919901-14919919 chr18:14919903-14919916 chr18:14919903-14919917 chr18:14919904-14919916 chr18:14919903-14919918
50	HNF4G	chr18:14919715-14920045	HepG2	liver:	n/a	chr18:14919904-14919916 chr18:14919903-14919918 chr18:14919904-14919916 chr18:14919909-14919917 chr18:14919904-14919916 chr18:14919903-14919916 chr18:14919903-14919916 chr18:14919903-14919918 chr18:14919901-14919916 chr18:14919904-14919917 chr18:14919905-14919917 chr18:14919903-14919918 chr18:14919901-14919919 chr18:14919903-14919916 chr18:14919903-14919917 chr18:14919904-14919916 chr18:14919903-14919918

No.	Distal block	Cell Line	Cell type
1	chr18:14921268..14923858-chr18:14933447..14934992,2	K562	blood:
2	chr18:14919425..14921650-chr18:14925598..14927538,2	MCF-7	breast:
3	chr18:14919425..14921650-chr18:14925598..14927538,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD30B-2	chr18:14905634-14905882	ENSG00000263618.1
2	lnc-ANKRD30B-2	chr18:14905775-14905882	ENSG00000263618.1
3	lnc-ANKRD30B-2	chr18:14909876-14910110	ENSG00000263618.1
4	lnc-ANKRD30B-2	chr18:14905514-14905688	l_1535_chr18:14894730-14900005_testes
5	lnc-ANKRD30B-2	chr18:14915514-14915627	ENSG00000263618.1
6	lnc-ANKRD30B-2	chr18:14899876-14900005	l_1535_chr18:14894730-14900005_testes
7	lnc-ANKRD30B-3	chr18:14918961-14919040	XLOC_012636
8	lnc-ANKRD30B-2	chr18:14903579-14903704	ENSG00000263618.1
9	lnc-ANKRD30B-2	chr18:14905442-14905882	ENSG00000263618.1
10	lnc-ANKRD30B-2	chr18:14909876-14910110	ENSG00000263618.1

Variant related genes	Relation type
ENSG00000263618	TF binding region

Extended variants
information (count: 1110 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:1110 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs785993	chr18:14899917-14899918	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs184868789	chr18:14899926-14899927	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs143497334	chr18:14899936-14899937	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs577790428	chr18:14899937-14899938	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs73431625	chr18:14899939-14899940	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs188740379	chr18:14899940-14899941	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs528892584	chr18:14899983-14899984	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs139393860	chr18:14900495-14900496	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs115660947	chr18:14900504-14900505	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs184233789	chr18:14900513-14900514	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs573729381	chr18:14900542-14900543	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs117099491	chr18:14900567-14900568	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs546598896	chr18:14900661-14900662	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs562535273	chr18:14900663-14900664	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs531482960	chr18:14900668-14900669	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs571622757	chr18:14900740-14900741	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs377005082	chr18:14900789-14900790	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs539057800	chr18:14900803-14900804	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs544922529	chr18:14900864-14900865	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs564702966	chr18:14900906-14900907	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs189350747	chr18:14900913-14900914	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs150070747	chr18:14900916-14900917	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs785990	chr18:14900920-14900921	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs181338574	chr18:14900974-14900975	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs549885114	chr18:14900984-14900985	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs539171762	chr18:14900993-14900994	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs570056063	chr18:14901022-14901023	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs557157725	chr18:14901029-14901030	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs141266226	chr18:14901048-14901049	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs552915776	chr18:14901089-14901090	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs566232463	chr18:14901106-14901107	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs537264773	chr18:14901143-14901144	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs375374722	chr18:14901181-14901182	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs552653998	chr18:14901803-14901804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182268377	chr18:14901837-14901838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573393633	chr18:14901882-14901883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535371955	chr18:14901888-14901889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548774325	chr18:14901925-14901926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146804273	chr18:14901926-14901927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373063075	chr18:14901945-14901946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552977580	chr18:14901974-14901975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78833651	chr18:14901993-14901994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186011531	chr18:14902020-14902021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577554284	chr18:14902055-14902056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556232541	chr18:14902066-14902067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575899534	chr18:14902091-14902092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538244696	chr18:14902100-14902101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558170756	chr18:14902142-14902143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140611574	chr18:14902145-14902146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540948785	chr18:14902174-14902175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
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
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
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
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14900600-14901200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr18:14901800-14912600	Weak transcription	Osteobl	bone
3	chr18:14902800-14904800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr18:14904800-14905200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr18:14904800-14906200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr18:14905000-14906200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr18:14905200-14905400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr18:14905400-14905800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr18:14905400-14906400	Enhancers	Dnd41	blood
10	chr18:14905800-14906000	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr18:14905800-14906000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr18:14907400-14907600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr18:14907600-14908400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr18:14908400-14909200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr18:14912600-14915200	Enhancers	Osteobl	bone
16	chr18:14914000-14914200	Enhancers	NHDF-Ad	bronchial
17	chr18:14914200-14914800	Weak transcription	NHDF-Ad	bronchial
18	chr18:14914200-14915200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr18:14914400-14914600	Enhancers	Placenta	Placenta
20	chr18:14914400-14915000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr18:14914600-14915200	Weak transcription	Placenta	Placenta
22	chr18:14914800-14915200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr18:14914800-14915600	Enhancers	NHDF-Ad	bronchial
24	chr18:14915200-14916200	Enhancers	Placenta	Placenta
25	chr18:14916400-14925200	Weak transcription	Spleen	Spleen
26	chr18:14917000-14917800	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr18:14917800-14918800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr18:14918200-14928400	Weak transcription	Aorta	Aorta
29	chr18:14918800-14920600	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr18:14918800-14921000	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr18:14919000-14920200	ZNF genes & repeats	Fetal Intestine Small	intestine
32	chr18:14919000-14920600	Enhancers	HepG2	liver
33	chr18:14919000-14921000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr18:14919200-14919600	Enhancers	Colonic Mucosa	Colon
35	chr18:14919400-14922200	Enhancers	Liver	Liver
36	chr18:14919600-14921200	Weak transcription	Colonic Mucosa	Colon
37	chr18:14919800-14920200	Enhancers	Pancreas	Pancrea
38	chr18:14920000-14920200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr18:14920000-14920200	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr18:14920000-14920200	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr18:14920000-14922200	Enhancers	Duodenum Mucosa	Duodenum
42	chr18:14920200-14920600	Enhancers	Fetal Intestine Small	intestine
43	chr18:14920200-14921200	Weak transcription	Pancreas	Pancrea
44	chr18:14920200-14933200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr18:14920400-14921000	Enhancers	Fetal Intestine Large	intestine
46	chr18:14920600-14920800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr18:14920800-14921200	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr18:14921000-14921400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr18:14921000-14921600	Weak transcription	Fetal Intestine Large	intestine
50	chr18:14921200-14921400	Enhancers	Pancreas	Pancrea

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