Variant report

Variant	nsv830151
Chromosome Location	chr4:171423566-171577867
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	chr4:171510872-171511031	HepG2	liver:	n/a	n/a
2	BHLHE40	chr4:171502518-171502862	HepG2	liver:	n/a	n/a
3	BHLHE40	chr4:171502643-171502771	K562	blood:	n/a	n/a
4	BRCA1	chr4:171439018-171439032	GM12878	blood:	n/a	n/a
5	CEBPB	chr4:171484246-171484504	A549	lung:	n/a	chr4:171484392-171484401 chr4:171484390-171484403 chr4:171484390-171484403 chr4:171484392-171484401 chr4:171484390-171484401 chr4:171484392-171484401 chr4:171484391-171484402 chr4:171484392-171484401
6	CEBPB	chr4:171484222-171484533	IMR90	lung:	n/a	chr4:171484392-171484401 chr4:171484390-171484403 chr4:171484390-171484403 chr4:171484392-171484401 chr4:171484390-171484401 chr4:171484392-171484401 chr4:171484391-171484402 chr4:171484392-171484401
7	CEBPB	chr4:171432364-171432592	A549	lung:	n/a	chr4:171432493-171432506
8	CEBPB	chr4:171432318-171432584	HepG2	liver:	n/a	chr4:171432493-171432506
9	CEBPB	chr4:171484229-171484540	HepG2	liver:	n/a	chr4:171484392-171484401 chr4:171484390-171484403 chr4:171484390-171484403 chr4:171484392-171484401 chr4:171484390-171484401 chr4:171484392-171484401 chr4:171484391-171484402 chr4:171484392-171484401
10	CEBPB	chr4:171510935-171511156	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr4:171510840-171510990	Caco-2	colon:	n/a	chr4:171510911-171510932
12	CTCF	chr4:171545180-171545330	AG10803	skin:	n/a	chr4:171545229-171545247
13	CTCF	chr4:171510820-171510970	Hela-S3	cervix:	n/a	chr4:171510911-171510932
14	CTCF	chr4:171545220-171545287	MCF-7	breast:	n/a	chr4:171545229-171545247
15	CTCF	chr4:171545185-171545304	HepG2	liver:	n/a	chr4:171545229-171545247
16	CTCF	chr4:171510940-171511090	GM12875	blood:	n/a	chr4:171511000-171511009
17	CTCF	chr4:171510860-171511010	HBMEC	blood vessel:	n/a	chr4:171510911-171510932 chr4:171511000-171511009
18	CTCF	chr4:171510620-171510770	GM12878	blood:	n/a	n/a
19	CTCF	chr4:171510840-171510990	BJ	skin:	n/a	chr4:171510911-171510932
20	CTCF	chr4:171510920-171511070	GM12865	blood:	n/a	chr4:171511000-171511009
21	CTCF	chr4:171565194-171565210	GM13976	blood:	n/a	n/a
22	CTCF	chr4:171511460-171511610	GM06990	blood:	n/a	n/a
23	CTCF	chr4:171545225-171545265	LNCaP	prostate:	n/a	chr4:171545229-171545247
24	CTCF	chr4:171510751-171511057	IMR90	lung:	n/a	chr4:171510911-171510932 chr4:171511000-171511009
25	CTCF	chr4:171510880-171511030	HEK293	kidney:	n/a	chr4:171510911-171510932 chr4:171511000-171511009
26	CTCF	chr4:171510880-171511030	HRPEpiC	eye:	n/a	chr4:171510911-171510932 chr4:171511000-171511009
27	CTCF	chr4:171510805-171511053	ECC-1	luminal epithelium:	n/a	chr4:171510911-171510932 chr4:171511000-171511009
28	CTCF	chr4:171545180-171545330	HMF	breast:	n/a	chr4:171545229-171545247
29	CTCF	chr4:171510883-171511051	HepG2	liver:	n/a	chr4:171510911-171510932 chr4:171511000-171511009
30	CTCF	chr4:171510860-171511010	AG04449	skin:	n/a	chr4:171510911-171510932 chr4:171511000-171511009
31	CTCF	chr4:171510920-171511070	GM12867	blood:	n/a	chr4:171511000-171511009
32	CTCF	chr4:171475440-171475590	WERI-Rb-1	eye:	n/a	n/a
33	CTCF	chr4:171545080-171545230	HMEC	breast:	n/a	n/a
34	CTCF	chr4:171510840-171510990	GM12868	blood:	n/a	chr4:171510911-171510932
35	CTCF	chr4:171510825-171511064	LNCaP	prostate:	n/a	chr4:171510911-171510932 chr4:171511000-171511009
36	CTCF	chr4:171510900-171511050	HBMEC	blood vessel:	n/a	chr4:171510911-171510932 chr4:171511000-171511009
37	CTCF	chr4:171545160-171545310	WERI-Rb-1	eye:	n/a	chr4:171545229-171545247
38	CTCF	chr4:171545220-171545370	A549	lung:	n/a	chr4:171545229-171545247
39	CTCF	chr4:171577220-171577370	GM12872	blood:	n/a	n/a
40	CTCF	chr4:171510960-171511110	GM12872	blood:	n/a	chr4:171511000-171511009
41	CTCF	chr4:171501860-171502010	HMF	breast:	n/a	n/a
42	CTCF	chr4:171510880-171511030	HCT-116	colon:	n/a	chr4:171510911-171510932 chr4:171511000-171511009
43	CTCF	chr4:171510880-171511030	Caco-2	colon:	n/a	chr4:171510911-171510932 chr4:171511000-171511009
44	CTCF	chr4:171510900-171511050	GM12871	blood:	n/a	chr4:171510911-171510932 chr4:171511000-171511009
45	CTCF	chr4:171510860-171511010	HRPEpiC	eye:	n/a	chr4:171510911-171510932 chr4:171511000-171511009
46	CTCF	chr4:171510920-171511070	HepG2	liver:	n/a	chr4:171511000-171511009
47	CTCF	chr4:171510920-171511070	GM12869	blood:	n/a	chr4:171511000-171511009
48	CTCF	chr4:171510781-171511086	SK-N-SH_RA	brain:	n/a	chr4:171510911-171510932 chr4:171511000-171511009
49	CTCF	chr4:171502220-171502370	GM12866	blood:	n/a	n/a
50	CTCF	chr4:171545065-171545327	H1-hESC	embryonic stem cell:	n/a	chr4:171545229-171545247

No.	Distal block	Cell Line	Cell type
1	chr4:171510370..171511381-chr4:171774385..171775274,7	MCF-7	breast:
2	chr4:171577282..171579007-chr4:171581596..171583717,2	K562	blood:
3	chr4:171510598..171511665-chr4:171774140..171775062,4	MCF-7	breast:
4	chr4:171180694..171181717-chr4:171544818..171545745,4	MCF-7	breast:
5	chr4:171438552..171440152-chr4:171440504..171442621,2	MCF-7	breast:
6	chr4:171515518..171516388-chr4:171637945..171638514,2	MCF-7	breast:
7	chr4:171510438..171511386-chr4:172107962..172108533,2	MCF-7	breast:
8	chr4:171512901..171514454-chr4:171522279..171524910,2	K562	blood:
9	chr4:171510421..171511267-chr4:171775848..171776873,4	MCF-7	breast:
10	chr12:42528394..42528943-chr4:171498226..171498870,2	MCF-7	breast:
11	chr4:171512901..171514454-chr4:171522279..171524910,2	K562	blood:
12	chr4:171510470..171511103-chr4:171637783..171638586,3	MCF-7	breast:
13	chr4:171438552..171440152-chr4:171440504..171442621,2	MCF-7	breast:
14	chr4:171510484..171511294-chr4:171637729..171638500,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CLCN3-11	chr4:171545262-171545320	NONHSAT099187
2	lnc-CLCN3-10	chr4:171440477-171441429	l_2774_chr4:171384330-171431550_prostate
3	lnc-AADAT-10	chr4:171432352-171432991	l_2775_chr4:171432351-171437825_testes
4	lnc-CLCN3-10	chr4:171434308-171434401	l_2774_chr4:171384330-171431550_prostate
5	lnc-CLCN3-11	chr4:171526160-171526923	NONHSAT099187
6	lnc-AADAT-10	chr4:171437348-171437825	l_2775_chr4:171432351-171437825_testes
7	lnc-CLCN3-10	chr4:171431385-171431550	l_2774_chr4:171384330-171431550_prostate

Variant related genes	Relation type
HSP90AA6P	TF binding region

Extended variants
information (count: 895 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:895 , 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	rs149030252	chr4:171431408-171431409	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs547263964	chr4:171431415-171431416	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs568609382	chr4:171431421-171431422	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs112642763	chr4:171431440-171431441	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs557068841	chr4:171431468-171431469	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs147943577	chr4:171431492-171431493	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs539472802	chr4:171431494-171431495	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs557823774	chr4:171431518-171431519	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs190270684	chr4:171431527-171431528	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs181098087	chr4:171431528-171431529	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs560505066	chr4:171432352-171432353	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs17661922	chr4:171432391-171432392	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs544553467	chr4:171432394-171432395	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs562822952	chr4:171432424-171432425	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs76590811	chr4:171432447-171432448	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs76667204	chr4:171432485-171432486	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs141767191	chr4:171432486-171432487	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs75397561	chr4:171432490-171432491	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs549408201	chr4:171432525-171432526	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs567710209	chr4:171432544-171432545	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs538220015	chr4:171432564-171432565	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs550132437	chr4:171432580-171432581	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs146235487	chr4:171432598-171432599	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs538475068	chr4:171432610-171432611	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs553882753	chr4:171432624-171432625	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs575903831	chr4:171432636-171432637	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs536384384	chr4:171432650-171432651	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs554243441	chr4:171432651-171432652	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs575662507	chr4:171432711-171432712	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs184095268	chr4:171432765-171432766	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs573794711	chr4:171432769-171432770	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs575639872	chr4:171432770-171432771	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs533485324	chr4:171432776-171432777	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs200927008	chr4:171432786-171432787	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs202002642	chr4:171432788-171432789	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs562860213	chr4:171432809-171432810	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs111232354	chr4:171432837-171432838	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs188195830	chr4:171432838-171432839	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs111517182	chr4:171432869-171432870	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs527871375	chr4:171432871-171432872	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs373193626	chr4:171432875-171432876	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs111898643	chr4:171432881-171432882	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs111442229	chr4:171432891-171432892	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs191862873	chr4:171432900-171432901	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs142584260	chr4:171432907-171432908	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs111235449	chr4:171432908-171432909	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs150956279	chr4:171432923-171432924	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs565916202	chr4:171432932-171432933	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs186844648	chr4:171432938-171432939	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs1830410	chr4:171432980-171432981	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Developmental delay	22127048	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:171443000-171443800	Enhancers	Aorta	Aorta
2	chr4:171451000-171451400	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr4:171451400-171451600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr4:171451600-171452600	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr4:171459600-171460800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr4:171474800-171475600	Enhancers	Fetal Brain Male	brain
7	chr4:171486200-171486600	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr4:171499800-171500200	Active TSS	Adipose Nuclei	Adipose
9	chr4:171502600-171503000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr4:171502600-171503200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr4:171502600-171503600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr4:171502800-171503200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr4:171502800-171503200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr4:171502800-171503600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr4:171505600-171506800	Enhancers	Fetal Brain Male	brain
16	chr4:171512200-171512600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr4:171512400-171513000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr4:171535600-171535800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:171559400-171560800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:171560000-171560600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
21	chr4:171560400-171560800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
22	chr4:171560600-171561200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:171568600-171570600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:171571200-171573000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:171572000-171572200	Enhancers	Placenta Amnion	Placenta Amnion
26	chr4:171572200-171572800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr4:171572800-171573400	Enhancers	Placenta Amnion	Placenta Amnion
28	chr4:171573000-171575000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:171573400-171574400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr4:171574400-171575400	Enhancers	Placenta Amnion	Placenta Amnion
31	chr4:171575400-171576600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr4:171576600-171576800	Enhancers	Placenta Amnion	Placenta Amnion

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