Variant report

Variant	nsv537360
Chromosome Location	chr4:173145426-173267314
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	CEBPB	chr4:173232932-173233175	HepG2	liver:	n/a	chr4:173233034-173233045 chr4:173233034-173233047
2	CEBPB	chr4:173188111-173188437	Hela-S3	cervix:	n/a	chr4:173188267-173188278 chr4:173188269-173188278 chr4:173188267-173188280 chr4:173188268-173188279
3	CEBPB	chr4:173232959-173233205	IMR90	lung:	n/a	chr4:173233034-173233045 chr4:173233034-173233047
4	CEBPB	chr4:173188160-173188405	HepG2	liver:	n/a	chr4:173188267-173188278 chr4:173188269-173188278 chr4:173188267-173188280 chr4:173188268-173188279
5	CEBPB	chr4:173201140-173201445	HepG2	liver:	n/a	chr4:173201304-173201315
6	CEBPB	chr4:173258739-173259576	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr4:173241253-173241358	A549	lung:	n/a	n/a
8	CEBPB	chr4:173263431-173263551	HepG2	liver:	n/a	chr4:173263474-173263485 chr4:173263475-173263486
9	CEBPB	chr4:173258722-173259354	MCF-7	breast:	n/a	n/a
10	CEBPB	chr4:173188171-173188416	IMR90	lung:	n/a	chr4:173188267-173188278 chr4:173188269-173188278 chr4:173188267-173188280 chr4:173188268-173188279
11	CTCF	chr4:173154195-173154354	Medullo	brain:	n/a	n/a
12	CTCF	chr4:173154205-173154338	Gliobla	brain:	n/a	n/a
13	CTCF	chr4:173154200-173154350	RPTEC	kidney:	n/a	n/a
14	CTCF	chr4:173154265-173154305	GM19240	blood:	n/a	n/a
15	CTCF	chr4:173250300-173250450	WERI-Rb-1	eye:	n/a	n/a
16	CTCF	chr4:173154190-173154375	MCF-7	breast:	n/a	n/a
17	CTCF	chr4:173162240-173162390	HMEC	breast:	n/a	n/a
18	CTCF	chr4:173235065-173235172	MCF-7	breast:	n/a	chr4:173235120-173235128
19	CTCF	chr4:173162303-173162385	GM12878	blood:	n/a	n/a
20	CTCF	chr4:173250280-173250430	GM12872	blood:	n/a	n/a
21	CTCF	chr4:173162240-173162390	BE2_C	brain:	n/a	n/a
22	CTCF	chr4:173154075-173154570	HCT-116	colon:	n/a	n/a
23	CTCF	chr4:173162280-173162430	HCPEpiC	choroid plexus:	n/a	n/a
24	CTCF	chr4:173154184-173154284	SK-N-SH_RA	brain:	n/a	n/a
25	CTCF	chr4:173162140-173162290	HCT-116	colon:	n/a	n/a
26	CTCF	chr4:173154180-173154330	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr4:173162249-173162321	LNCaP	prostate:	n/a	n/a
28	CTCF	chr4:173162220-173162370	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr4:173250320-173250470	BE2_C	brain:	n/a	n/a
30	CTCF	chr4:173162200-173162350	HEK293	kidney:	n/a	n/a
31	CTCF	chr4:173154220-173154370	A549	lung:	n/a	n/a
32	CTCF	chr4:173235020-173235170	Hela-S3	cervix:	n/a	chr4:173235120-173235128
33	CTCF	chr4:173154180-173154330	GM12865	blood:	n/a	n/a
34	CTCF	chr4:173154180-173154330	HEEpiC	esophagus:	n/a	n/a
35	CTCF	chr4:173162280-173162430	HRPEpiC	eye:	n/a	n/a
36	CTCF	chr4:173154220-173154370	SK-N-SH_RA	brain:	n/a	n/a
37	CTCF	chr4:173154237-173154342	A549	lung:	n/a	n/a
38	CTCF	chr4:173181384-173181486	GM20000	blood:	n/a	n/a
39	CTCF	chr4:173154184-173154480	MCF-7	breast:	n/a	n/a
40	CTCF	chr4:173235040-173235190	MCF-7	breast:	n/a	chr4:173235120-173235128
41	CTCF	chr4:173250300-173250450	GM12868	blood:	n/a	n/a
42	CTCF	chr4:173154180-173154330	HBMEC	blood vessel:	n/a	n/a
43	CTCF	chr4:173250440-173250590	GM12873	blood:	n/a	n/a
44	CTCF	chr4:173162283-173162343	LNCaP	prostate:	n/a	n/a
45	CTCF	chr4:173154200-173154350	WERI-Rb-1	eye:	n/a	n/a
46	CTCF	chr4:173235000-173235150	MCF-7	breast:	n/a	chr4:173235120-173235128
47	CTCF	chr4:173154254-173154293	GM12891	blood:	n/a	n/a
48	CTCF	chr4:173154180-173154330	MCF-7	breast:	n/a	n/a
49	CTCF	chr4:173237960-173238110	WI-38	lung:	n/a	n/a
50	CTCF	chr4:173154280-173154430	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:173189218..173190786-chr4:173201897..173204142,2	MCF-7	breast:
2	chr4:173230509..173232431-chr4:173232686..173235626,2	MCF-7	breast:
3	chr4:173258447..173260765-chr4:173263677..173267182,4	MCF-7	breast:
4	chr4:173147594..173150023-chr4:173150517..173152938,2	K562	blood:
5	chr4:173259736..173262636-chr4:173263825..173266213,3	MCF-7	breast:
6	chr4:173199435..173201780-chr4:173201933..173204432,2	MCF-7	breast:
7	chr4:173199435..173201780-chr4:173201933..173204432,2	MCF-7	breast:
8	chr4:173189218..173190786-chr4:173201897..173204142,2	MCF-7	breast:
9	chr4:173153306..173155383-chr4:173163779..173165686,2	K562	blood:
10	chr4:173153306..173155383-chr4:173163779..173165686,2	K562	blood:
11	chr4:173147594..173150023-chr4:173150517..173152938,2	K562	blood:
12	chr4:173258447..173260765-chr4:173263677..173267182,4	MCF-7	breast:
13	chr4:173259736..173262636-chr4:173263825..173266213,3	MCF-7	breast:
14	chr4:173203590..173205573-chr4:173207385..173209663,2	K562	blood:
15	chr4:173203590..173205573-chr4:173207385..173209663,2	K562	blood:
16	chr4:173230509..173232431-chr4:173232686..173235626,2	MCF-7	breast:

Variant related genes	Relation type
GALNTL6	TF binding region

Extended variants
information (count: 848 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:848 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144201815	chr4:173150442-173150443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191611756	chr4:173150536-173150537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572169888	chr4:173150556-173150557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546101237	chr4:173150577-173150578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184023178	chr4:173150594-173150595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145654125	chr4:173166602-173166603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566406636	chr4:173166603-173166604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529122009	chr4:173166610-173166611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs58932805	chr4:173166744-173166745	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs149134315	chr4:173166753-173166754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538337863	chr4:173166759-173166760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148317555	chr4:173166769-173166770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181249853	chr4:173166784-173166785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533920855	chr4:173166796-173166797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1503687	chr4:173166817-173166818	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs574401968	chr4:173166858-173166859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115956875	chr4:173166871-173166872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185024587	chr4:173166896-173166897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576558289	chr4:173166918-173166919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73870047	chr4:173166935-173166936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564009731	chr4:173166948-173166949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577980171	chr4:173166985-173166986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577592707	chr4:173166989-173166990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11945364	chr4:173167009-173167010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188267496	chr4:173167070-173167071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543756677	chr4:173167091-173167092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529157692	chr4:173167112-173167113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556461485	chr4:173167205-173167206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10005988	chr4:173167215-173167216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531391541	chr4:173167253-173167254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34045731	chr4:173167312-173167313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551881347	chr4:173167318-173167319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532849002	chr4:173167338-173167339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571674547	chr4:173167347-173167348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181871030	chr4:173167352-173167353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113873707	chr4:173167386-173167387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547822119	chr4:173167391-173167392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs836322	chr4:173167398-173167399	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs559992336	chr4:173173828-173173829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142680908	chr4:173173843-173173844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548920630	chr4:173173873-173173874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562661462	chr4:173173883-173173884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531759916	chr4:173173885-173173886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551896808	chr4:173173969-173173970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571703313	chr4:173174048-173174049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539823562	chr4:173174226-173174227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192753516	chr4:173174227-173174228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184297912	chr4:173174257-173174258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536912644	chr4:173174274-173174275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs371827209	chr4:173174308-173174309	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:173150400-173150600	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr4:173166600-173167400	Enhancers	Fetal Brain Male	brain
3	chr4:173173800-173175800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:173173800-173176000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:173174600-173175800	Enhancers	Brain Germinal Matrix	brain
6	chr4:173184200-173184600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr4:173184600-173187200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr4:173187200-173187600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr4:173187400-173189600	Enhancers	Hela-S3	cervix
10	chr4:173189600-173191600	Weak transcription	Hela-S3	cervix
11	chr4:173191600-173191800	Enhancers	Hela-S3	cervix
12	chr4:173194600-173195000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:173203600-173204200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr4:173208000-173209000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr4:173210800-173211600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr4:173240200-173240600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:173240600-173241000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:173241000-173241600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:173241200-173244000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr4:173241400-173242000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr4:173242800-173243200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:173251000-173251600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:173251600-173251800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr4:173257800-173260800	Enhancers	Hela-S3	cervix
25	chr4:173260600-173261000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:173265000-173266200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:173265400-173265800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:173265400-173265800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr4:173266200-173269400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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