Variant report

Variant	nsv909477
Chromosome Location	chr18:24727747-24744027
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:95)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:95 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr18:24729202-24729532	K562	blood:	n/a	n/a
2	CTCF	chr18:24743260-24743410	A549	lung:	n/a	n/a
3	CTCF	chr18:24743220-24743370	GM12874	blood:	n/a	n/a
4	CTCF	chr18:24743280-24743430	GM12872	blood:	n/a	n/a
5	CTCF	chr18:24742725-24742758	GM10248	blood:	n/a	n/a
6	CTCF	chr18:24743373-24743384	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr18:24743220-24743370	SAEC	small airway:	n/a	n/a
8	CTCF	chr18:24743285-24743409	GM13977	blood:	n/a	n/a
9	CTCF	chr18:24743260-24743410	MCF-7	breast:	n/a	n/a
10	CTCF	chr18:24743300-24743444	GM19238	blood:	n/a	n/a
11	CTCF	chr18:24743220-24743370	SK-N-SH_RA	brain:	n/a	n/a
12	CTCF	chr18:24743260-24743410	GM12866	blood:	n/a	n/a
13	CTCF	chr18:24743260-24743410	GM12871	blood:	n/a	n/a
14	CTCF	chr18:24743360-24743510	WERI-Rb-1	eye:	n/a	n/a
15	CTCF	chr18:24743520-24743670	GM12868	blood:	n/a	n/a
16	CTCF	chr18:24743342-24743462	GM12891	blood:	n/a	n/a
17	CTCF	chr18:24743260-24743410	GM12867	blood:	n/a	n/a
18	CTCF	chr18:24743240-24743390	HCT-116	colon:	n/a	n/a
19	CTCF	chr18:24743260-24743410	RPTEC	kidney:	n/a	n/a
20	CTCF	chr18:24743263-24743455	HepG2	liver:	n/a	n/a
21	CTCF	chr18:24743260-24743410	HMEC	breast:	n/a	n/a
22	CTCF	chr18:24743272-24743484	GM12892	blood:	n/a	n/a
23	CTCF	chr18:24743260-24743410	GM12872	blood:	n/a	n/a
24	CTCF	chr18:24743311-24743459	NHEK	skin:	n/a	n/a
25	CTCF	chr18:24743260-24743410	GM12869	blood:	n/a	n/a
26	CTCF	chr18:24743260-24743410	GM12868	blood:	n/a	n/a
27	CTCF	chr18:24743286-24743487	MCF-7	breast:	n/a	n/a
28	CTCF	chr18:24743220-24743370	HMEC	breast:	n/a	n/a
29	CTCF	chr18:24743303-24743398	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr18:24743220-24743370	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr18:24743220-24743370	GM12873	blood:	n/a	n/a
32	CTCF	chr18:24743220-24743370	GM12875	blood:	n/a	n/a
33	CTCF	chr18:24743265-24743493	LNCaP	prostate:	n/a	n/a
34	CTCF	chr18:24743284-24743490	MCF-7	breast:	n/a	n/a
35	CTCF	chr18:24743600-24743750	GM12872	blood:	n/a	n/a
36	CTCF	chr18:24743220-24743370	GM12872	blood:	n/a	n/a
37	CTCF	chr18:24743260-24743410	BE2_C	brain:	n/a	n/a
38	CTCF	chr18:24743344-24743376	Kidney_OC	kidney:	n/a	n/a
39	CTCF	chr18:24743320-24743470	HEK293	kidney:	n/a	n/a
40	CTCF	chr18:24743240-24743390	MCF-7	breast:	n/a	n/a
41	CTCF	chr18:24743340-24743490	GM12878	blood:	n/a	n/a
42	CTCF	chr18:24743240-24743390	GM12865	blood:	n/a	n/a
43	CTCF	chr18:24743240-24743390	GM12873	blood:	n/a	n/a
44	CTCF	chr18:24743280-24743492	MCF-7	breast:	n/a	n/a
45	CTCF	chr18:24743260-24743410	HCT-116	colon:	n/a	n/a
46	CTCF	chr18:24743220-24743370	BE2_C	brain:	n/a	n/a
47	CTCF	chr18:24743306-24743389	GM12878	blood:	n/a	n/a
48	CTCF	chr18:24743220-24743370	NHEK	skin:	n/a	n/a
49	CTCF	chr18:24743360-24743510	GM12865	blood:	n/a	n/a
50	CTCF	chr18:24743260-24743410	NB4	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:24734168..24736128-chr18:24762446..24765149,2	K562	blood:
2	chr18:24587162..24589841-chr18:24735427..24737669,2	K562	blood:

No data

Variant related genes	Relation type
CHST9	TF binding region

Extended variants
information (count: 680 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:680 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4800791	chr18:24727747-24727748	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs187020334	chr18:24727789-24727790	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs4800792	chr18:24727802-24727803	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs565945605	chr18:24727825-24727826	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs199868717	chr18:24727826-24727827	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs568773228	chr18:24727829-24727830	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs116886149	chr18:24727831-24727832	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs554575216	chr18:24727857-24727858	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs572486773	chr18:24727888-24727889	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs146581627	chr18:24727897-24727898	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs78731757	chr18:24727951-24727952	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs576491834	chr18:24727979-24727980	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs375978734	chr18:24727981-24727982	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs114117793	chr18:24727986-24727987	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs554917500	chr18:24727996-24727997	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs544435879	chr18:24728014-24728015	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs369142770	chr18:24728018-24728019	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs530032232	chr18:24728079-24728080	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs541744159	chr18:24728091-24728092	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs560453836	chr18:24728137-24728138	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs373174243	chr18:24728138-24728139	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs9955379	chr18:24728139-24728140	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs564580392	chr18:24728146-24728147	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs531700163	chr18:24728176-24728177	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs550394314	chr18:24728191-24728192	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs568538331	chr18:24728192-24728193	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs141276579	chr18:24728193-24728194	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs571410679	chr18:24728212-24728213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547707801	chr18:24728221-24728222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34605545	chr18:24728226-24728227	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs191815138	chr18:24728227-24728228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376302092	chr18:24728269-24728270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558123687	chr18:24728321-24728322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145708544	chr18:24728328-24728329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374671747	chr18:24728396-24728397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35907434	chr18:24728414-24728415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537522417	chr18:24728419-24728420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368049773	chr18:24728428-24728429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372010613	chr18:24728436-24728437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556359695	chr18:24728468-24728469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs59834932	chr18:24728469-24728470	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs34798236	chr18:24728490-24728491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368461427	chr18:24728493-24728494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372429088	chr18:24728519-24728520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376752000	chr18:24728556-24728557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541978524	chr18:24728588-24728589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560466065	chr18:24728610-24728611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545148279	chr18:24728621-24728622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572329099	chr18:24728632-24728633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201526635	chr18:24728684-24728685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	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
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Glioblastoma multiforme	21922591	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Breast cancer	21785460	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	17002787	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	19651600	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:24716600-24730200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:24724600-24728200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr18:24725000-24730200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr18:24726400-24731400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr18:24727400-24728200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr18:24730000-24730600	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr18:24730200-24730400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr18:24730200-24730800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr18:24730400-24730800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr18:24730400-24733800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr18:24730600-24744600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr18:24730800-24731200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr18:24731200-24731800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr18:24731600-24743400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr18:24733800-24734000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr18:24743200-24744200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr18:24743400-24743800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
18	chr18:24743400-24744200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
19	chr18:24743400-24745400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr18:24743600-24745600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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