Variant report

Variant	nsv525324
Chromosome Location	chr4:172944925-172981543
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	ATF3	chr4:172963829-172964376	HCT-116	colon:	n/a	n/a
2	ATF3	chr4:172964033-172964313	K562	blood:	n/a	n/a
3	BHLHE40	chr4:172955266-172955458	GM12878	blood:	n/a	n/a
4	CEBPB	chr4:172967162-172967510	HepG2	liver:	n/a	chr4:172967347-172967358 chr4:172967303-172967314
5	CEBPB	chr4:172967177-172967498	IMR90	lung:	n/a	chr4:172967347-172967358 chr4:172967303-172967314
6	CEBPB	chr4:172976992-172977221	HepG2	liver:	n/a	chr4:172977101-172977112
7	CEBPB	chr4:172967123-172967427	K562	blood:	n/a	chr4:172967347-172967358 chr4:172967303-172967314
8	CEBPB	chr4:172963622-172964378	HCT-116	colon:	n/a	n/a
9	CEBPB	chr4:172963919-172964070	K562	blood:	n/a	n/a
10	CEBPB	chr4:172963774-172964388	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr4:172963777-172964413	HCT-116	colon:	n/a	n/a
12	CEBPB	chr4:172967170-172967455	Hela-S3	cervix:	n/a	chr4:172967347-172967358 chr4:172967303-172967314
13	CEBPB	chr4:172967154-172967499	A549	lung:	n/a	chr4:172967347-172967358 chr4:172967303-172967314
14	CHD2	chr4:172955323-172955408	GM12878	blood:	n/a	n/a
15	CTCF	chr4:172955240-172955390	A549	lung:	n/a	n/a
16	CTCF	chr4:172955291-172955491	A549	lung:	n/a	chr4:172955381-172955402 chr4:172955386-172955404 chr4:172955387-172955403
17	CTCF	chr4:172955260-172955410	HFF-Myc	foreskin:	n/a	chr4:172955381-172955402 chr4:172955386-172955404 chr4:172955387-172955403
18	CTCF	chr4:172955277-172955511	GM12892	blood:	n/a	chr4:172955381-172955402 chr4:172955386-172955404 chr4:172955387-172955403
19	CTCF	chr4:172955320-172955470	SK-N-SH_RA	brain:	n/a	chr4:172955381-172955402 chr4:172955386-172955404 chr4:172955387-172955403
20	CTCF	chr4:172955300-172955450	HRPEpiC	eye:	n/a	chr4:172955381-172955402 chr4:172955386-172955404 chr4:172955387-172955403
21	CTCF	chr4:172955074-172955691	A549	lung:	n/a	chr4:172955381-172955402 chr4:172955386-172955404 chr4:172955387-172955403
22	CTCF	chr4:172955272-172955488	IMR90	lung:	n/a	chr4:172955381-172955402 chr4:172955386-172955404 chr4:172955387-172955403
23	CTCF	chr4:172955280-172955496	MCF-7	breast:	n/a	chr4:172955381-172955402 chr4:172955386-172955404 chr4:172955387-172955403
24	CTCF	chr4:172955340-172955490	GM12873	blood:	n/a	chr4:172955381-172955402 chr4:172955386-172955404 chr4:172955387-172955403
25	CTCF	chr4:172955263-172955526	GM19240	blood:	n/a	chr4:172955381-172955402 chr4:172955386-172955404 chr4:172955387-172955403
26	CTCF	chr4:172955340-172955490	SK-N-SH_RA	brain:	n/a	chr4:172955381-172955402 chr4:172955386-172955404 chr4:172955387-172955403
27	CTCF	chr4:172955240-172955390	MCF-7	breast:	n/a	n/a
28	CTCF	chr4:172955300-172955450	GM12875	blood:	n/a	chr4:172955381-172955402 chr4:172955386-172955404 chr4:172955387-172955403
29	CTCF	chr4:172972664-172972707	MCF-7	breast:	n/a	n/a
30	CTCF	chr4:172955260-172955410	GM12866	blood:	n/a	chr4:172955381-172955402 chr4:172955386-172955404 chr4:172955387-172955403
31	CTCF	chr4:172955320-172955470	HepG2	liver:	n/a	chr4:172955381-172955402 chr4:172955386-172955404 chr4:172955387-172955403
32	CTCF	chr4:172955300-172955450	HMF	breast:	n/a	chr4:172955381-172955402 chr4:172955386-172955404 chr4:172955387-172955403
33	CTCF	chr4:172955300-172955450	HUVEC	blood vessel:	n/a	chr4:172955381-172955402 chr4:172955386-172955404 chr4:172955387-172955403
34	CTCF	chr4:172955223-172955499	A549	lung:	n/a	chr4:172955381-172955402 chr4:172955386-172955404 chr4:172955387-172955403
35	CTCF	chr4:172955320-172955470	HBMEC	blood vessel:	n/a	chr4:172955381-172955402 chr4:172955386-172955404 chr4:172955387-172955403
36	CTCF	chr4:172955340-172955490	MCF-7	breast:	n/a	chr4:172955381-172955402 chr4:172955386-172955404 chr4:172955387-172955403
37	CTCF	chr4:172955280-172955430	BJ	skin:	n/a	chr4:172955381-172955402 chr4:172955386-172955404 chr4:172955387-172955403
38	CTCF	chr4:172955180-172955505	H1-hESC	embryonic stem cell:	n/a	chr4:172955381-172955402 chr4:172955386-172955404 chr4:172955387-172955403
39	CTCF	chr4:172955268-172955567	H1-hESC	embryonic stem cell:	n/a	chr4:172955381-172955402 chr4:172955386-172955404 chr4:172955387-172955403
40	CTCF	chr4:172955185-172955654	GM12878	blood:	n/a	chr4:172955381-172955402 chr4:172955386-172955404 chr4:172955387-172955403
41	CTCF	chr4:172955340-172955490	GM12878	blood:	n/a	chr4:172955381-172955402 chr4:172955386-172955404 chr4:172955387-172955403
42	CTCF	chr4:172955340-172955490	GM12864	blood:	n/a	chr4:172955381-172955402 chr4:172955386-172955404 chr4:172955387-172955403
43	CTCF	chr4:172955220-172955370	AG04450	lung:	n/a	n/a
44	CTCF	chr4:172955281-172955513	Spleen_OC	spleen:	n/a	chr4:172955381-172955402 chr4:172955386-172955404 chr4:172955387-172955403
45	CTCF	chr4:172955320-172955470	NHDF-neo	bronchial:	n/a	chr4:172955381-172955402 chr4:172955386-172955404 chr4:172955387-172955403
46	CTCF	chr4:172955280-172955430	GM12801	blood:	n/a	chr4:172955381-172955402 chr4:172955386-172955404 chr4:172955387-172955403
47	CTCF	chr4:172976382-172976428	GM20000	blood:	n/a	n/a
48	CTCF	chr4:172955223-172955494	K562	blood:	n/a	chr4:172955381-172955402 chr4:172955386-172955404 chr4:172955387-172955403
49	CTCF	chr4:172955197-172955574	K562	blood:	n/a	chr4:172955381-172955402 chr4:172955386-172955404 chr4:172955387-172955403
50	CTCF	chr4:172955290-172955498	H1-hESC	embryonic stem cell:	n/a	chr4:172955381-172955402 chr4:172955386-172955404 chr4:172955387-172955403

No.	Distal block	Cell Line	Cell type
1	chr4:172962947..172965633-chr4:172966859..172970006,3	K562	blood:
2	chr4:172962947..172965633-chr4:172966859..172970006,3	K562	blood:
3	chr4:172977943..172980712-chr4:172981081..172983923,2	K562	blood:
4	chr4:172968051..172969692-chr4:172971526..172973256,2	K562	blood:
5	chr4:172978945..172981586-chr4:173074547..173076699,2	K562	blood:
6	chr4:172767155..172768332-chr4:172954944..172955895,5	MCF-7	breast:
7	chr4:172955374..172956340-chr4:173068552..173069236,2	MCF-7	breast:
8	chr4:172977943..172980712-chr4:172981081..172983923,2	K562	blood:
9	chr4:172979164..172981714-chr4:172998153..173000134,2	K562	blood:
10	chr4:172968051..172969692-chr4:172971526..172973256,2	K562	blood:
11	chr2:166764007..166764674-chr4:172977172..172977832,2	MCF-7	breast:
12	chr4:171180744..171181463-chr4:172955220..172956289,3	MCF-7	breast:

Variant related genes	Relation type
GALNTL6	TF binding region
ENSG00000123607	chromatin interactions

Extended variants
information (count: 579 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:579 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527389103	chr4:172946655-172946656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547221775	chr4:172946674-172946675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373758443	chr4:172946691-172946692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567344584	chr4:172946698-172946699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535901955	chr4:172946785-172946786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143644467	chr4:172946786-172946787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569987150	chr4:172946788-172946789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557163440	chr4:172946843-172946844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538899287	chr4:172946849-172946850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577113714	chr4:172946859-172946860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs56013157	chr4:172946907-172946908	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs191151481	chr4:172946908-172946909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537109946	chr4:172946939-172946940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs373495376	chr4:172946946-172946947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182983743	chr4:172946947-172946948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555840088	chr4:172964010-172964011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs199641776	chr4:172964026-172964027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs397996272	chr4:172964042-172964043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575687571	chr4:172964132-172964133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188431110	chr4:172964163-172964164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114381541	chr4:172964277-172964278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536794264	chr4:172964319-172964320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557010247	chr4:172964346-172964347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542420950	chr4:172964362-172964363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192306572	chr4:172964391-172964392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184592679	chr4:172964393-172964394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190337191	chr4:172964472-172964473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144565054	chr4:172964543-172964544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs17218187	chr4:172964562-172964563	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs372410684	chr4:172964587-172964588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541765409	chr4:172965004-172965005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188763378	chr4:172965062-172965063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575380882	chr4:172965097-172965098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544372376	chr4:172965344-172965345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373963856	chr4:172965399-172965400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564443473	chr4:172965417-172965418	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181665097	chr4:172965438-172965439	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs13134541	chr4:172965481-172965482	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs145402057	chr4:172965507-172965508	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529296229	chr4:172965529-172965530	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186330099	chr4:172965530-172965531	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563175688	chr4:172965652-172965653	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs376733422	chr4:172965655-172965656	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs531835799	chr4:172965691-172965692	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs563781265	chr4:172965807-172965808	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs529334738	chr4:172965812-172965813	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs189947668	chr4:172965831-172965832	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs570465684	chr4:172965855-172965856	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs539102693	chr4:172965863-172965864	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs546283930	chr4:172965912-172965913	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:172946600-172947000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr4:172964000-172964600	Enhancers	Hela-S3	cervix
3	chr4:172965000-172965400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr4:172965400-172965600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:172965400-172965800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:172965400-172966200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:172965600-172965800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:172965800-172966000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:172966000-172968000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:172966200-172968200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:172968000-172968600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:172968000-172969200	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr4:172968200-172968600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:172968600-172968800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:172968600-172969200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:172968800-172970400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:172969200-172969400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:172969200-172969400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr4:172969200-172970200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:172969400-172970200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:172970200-172970800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr4:172970400-172970800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:172970800-172972000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:172970800-172972400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:172972000-172973000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:172972200-172972600	Enhancers	Gastric	stomach
27	chr4:172972200-172972800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr4:172972200-172973800	Enhancers	K562	blood
29	chr4:172972400-172972600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:172972600-172974000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr4:172973000-172973400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:172973400-172973800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr4:172973800-172974600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr4:172974000-172974600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr4:172974600-172975000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:172974600-172975600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:172975000-172975600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr4:172975600-172977000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr4:172975600-172977000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr4:172976000-172976800	Enhancers	GM12878-XiMat	blood
41	chr4:172976400-172977200	Enhancers	Fetal Heart	heart
42	chr4:172977000-172977200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr4:172977000-172980200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr4:172980200-172980400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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