Variant report

Variant	nsv593249
Chromosome Location	chr4:1080391-1087265
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:117)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:117 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr4:1082608-1082822	K562	blood:	n/a	n/a
2	CBX3	chr4:1082524-1082950	K562	blood:	n/a	n/a
3	CEBPB	chr4:1086409-1086563	HepG2	liver:	n/a	chr4:1086463-1086474 chr4:1086465-1086476 chr4:1086465-1086476
4	CTCF	chr4:1086140-1086290	HMF	breast:	n/a	n/a
5	CTCF	chr4:1086188-1086315	HepG2	liver:	n/a	n/a
6	CTCF	chr4:1086200-1086350	HEK293	kidney:	n/a	n/a
7	CTCF	chr4:1086173-1086347	GM12878	blood:	n/a	n/a
8	CTCF	chr4:1086160-1086310	AG10803	skin:	n/a	n/a
9	CTCF	chr4:1086100-1086250	MCF-7	breast:	n/a	n/a
10	CTCF	chr4:1082761-1082838	Spleen_OC	spleen:	n/a	n/a
11	CTCF	chr4:1086180-1086330	GM12866	blood:	n/a	n/a
12	CTCF	chr4:1086197-1086312	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr4:1086174-1086285	SK-N-SH_RA	brain:	n/a	n/a
14	CTCF	chr4:1086340-1086490	HFF-Myc	foreskin:	n/a	n/a
15	CTCF	chr4:1086260-1086410	NHDF-neo	bronchial:	n/a	n/a
16	CTCF	chr4:1086200-1086350	HVMF	connective:	n/a	n/a
17	CTCF	chr4:1086140-1086290	HPAF	blood vessel:	n/a	n/a
18	CTCF	chr4:1086192-1086353	GM12878	blood:	n/a	n/a
19	CTCF	chr4:1086200-1086350	GM12873	blood:	n/a	n/a
20	CTCF	chr4:1086180-1086330	GM12871	blood:	n/a	n/a
21	CTCF	chr4:1086200-1086350	SK-N-SH_RA	brain:	n/a	n/a
22	CTCF	chr4:1086129-1086346	K562	blood:	n/a	n/a
23	CTCF	chr4:1086237-1086260	NHEK	skin:	n/a	n/a
24	CTCF	chr4:1086080-1086230	WI-38	lung:	n/a	n/a
25	CTCF	chr4:1086180-1086330	HA-sp	spinal cord:	n/a	n/a
26	CTCF	chr4:1086180-1086330	GM12878	blood:	n/a	n/a
27	CTCF	chr4:1086120-1086270	SK-N-SH_RA	brain:	n/a	n/a
28	CTCF	chr4:1086193-1086308	MCF-7	breast:	n/a	n/a
29	CTCF	chr4:1086140-1086290	GM12869	blood:	n/a	n/a
30	CTCF	chr4:1086141-1086327	Gliobla	brain:	n/a	n/a
31	CTCF	chr4:1086160-1086310	NHEK	skin:	n/a	n/a
32	CTCF	chr4:1086120-1086270	NB4	blood:	n/a	n/a
33	CTCF	chr4:1086117-1086358	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr4:1086080-1086230	HCM	heart:	n/a	n/a
35	CTCF	chr4:1086080-1086230	GM12872	blood:	n/a	n/a
36	CTCF	chr4:1086100-1086250	AG04450	lung:	n/a	n/a
37	CTCF	chr4:1086140-1086290	HUVEC	blood vessel:	n/a	n/a
38	CTCF	chr4:1086160-1086310	GM12872	blood:	n/a	n/a
39	CTCF	chr4:1086220-1086370	HFF-Myc	foreskin:	n/a	n/a
40	CTCF	chr4:1086120-1086270	GM12868	blood:	n/a	n/a
41	CTCF	chr4:1086142-1086352	HepG2	liver:	n/a	n/a
42	CTCF	chr4:1086192-1086283	Medullo	brain:	n/a	n/a
43	CTCF	chr4:1086207-1086296	GM12892	blood:	n/a	n/a
44	CTCF	chr4:1086100-1086250	GM12870	blood:	n/a	n/a
45	CTCF	chr4:1086229-1086309	GM10248	blood:	n/a	n/a
46	CTCF	chr4:1086140-1086290	HEK293	kidney:	n/a	n/a
47	CTCF	chr4:1086120-1086270	WERI-Rb-1	eye:	n/a	n/a
48	CTCF	chr4:1086160-1086310	GM12873	blood:	n/a	n/a
49	CTCF	chr4:1086120-1086270	HPAF	blood vessel:	n/a	n/a
50	CTCF	chr4:1086153-1086324	A549	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:1086637-1086687	HCM	heart:	n/a
2	chr4:1086637-1086687	AG09319	gingival:	n/a
3	chr4:1086637-1086687	SK-N-SH	brain:	n/a
4	chr4:1086637-1086687	HCF	heart:	n/a
5	chr4:1086637-1086687	HRPEpiC	eye:	n/a
6	chr4:1086637-1086687	PrEC	prostate:	n/a
7	chr4:1086637-1086687	NH-A	brain:	n/a
8	chr4:1086637-1086687	K562	blood:	n/a
9	chr4:1086637-1086687	U87	brain:	n/a
10	chr4:1086637-1086687	H1-hESC	embryonic stem cell:	embryo
11	chr4:1086637-1086687	ProgFib	skin:	n/a
12	chr4:1086637-1086687	Hepatocyte	liver:	n/a
13	chr4:1086637-1086687	HRCEpiC	kidney:	n/a
14	chr4:1086637-1086687	MCF10A-Er-Src	breast:	n/a
15	chr4:1086637-1086687	GM12878	blood:	n/a
16	chr4:1086637-1086687	PFSK-1	brain:	n/a
17	chr4:1086637-1086687	GM19239	blood:	n/a
18	chr4:1086637-1086687	LNCaP	prostate:	n/a
19	chr4:1086637-1086687	Jurkat	blood:	n/a
20	chr4:1086637-1086687	SK-N-MC	brain:	n/a
21	chr4:1086637-1086687	HEK293	kidney:	embryo
22	chr4:1086637-1086687	GM12892	blood:	n/a
23	chr4:1086637-1086687	MCF-7	breast:	n/a
24	chr4:1086637-1086687	BJ	skin:	n/a
25	chr4:1086637-1086687	NHBE	bronchial:	n/a
26	chr4:1086637-1086687	ECC-1	luminal epithelium:	n/a
27	chr4:1086637-1086687	HL-60	blood:	n/a
28	chr4:1086637-1086687	ovcar-3	ovarian:	n/a
29	chr4:1086637-1086687	NHDF-neo	bronchial:	n/a
30	chr4:1086637-1086687	HCPEpiC	choroid plexus:	n/a
31	chr4:1086637-1086687	T-47D	breast:	n/a
32	chr4:1086637-1086687	NB4	blood:	n/a
33	chr4:1086637-1086687	RPTEC	kidney:	n/a
34	chr4:1086637-1086687	AG04449	skin:	fetal
35	chr4:1086637-1086687	Hela-S3	cervix:	n/a
36	chr4:1086637-1086687	HPAEpiC	pulmonary alveolar:	n/a
37	chr4:1086637-1086687	GM12891	blood:	n/a
38	chr4:1086637-1086687	AG10803	skin:	n/a
39	chr4:1086637-1086687	AG04450	lung:	fetal
40	chr4:1086637-1086687	BE2_C	brain:	n/a
41	chr4:1086637-1086687	HepG2	liver:	n/a
42	chr4:1086637-1086687	NT2-D1	testis:	n/a
43	chr4:1086637-1086687	HAEpiC	amniotic membrane:	n/a
44	chr4:1086637-1086687	Caco-2	colon:	n/a
45	chr4:1086637-1086687	CMK	blood:	n/a
46	chr4:1086637-1086687	HCT-116	colon:	n/a
47	chr4:1086637-1086687	HNPCEpiC	eye:	n/a
48	chr4:1086637-1086687	AoSMC	blood vessel:	n/a
49	chr4:1086637-1086687	HUVEC	blood vessel:	n/a
50	chr4:1086637-1086687	PANC-1	pancreas:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:1074111..1076189-chr4:1085996..1088070,2	K562	blood:
2	chr4:1058468..1061069-chr4:1080892..1083707,2	K562	blood:
3	chr4:1076013..1078004-chr4:1078598..1081280,2	K562	blood:
4	chr4:1085294..1087604-chr4:1093899..1095690,2	K562	blood:
5	chr4:1086221..1088731-chr4:1090765..1092594,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNF212	TF binding region
RNF212	CpG island
ENSG00000178222	chromatin interactions
ENSG00000251639	chromatin interactions

Extended variants
information (count: 304 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs585735	chr4:1080391-1080392	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs192924988	chr4:1080439-1080440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557052314	chr4:1080533-1080534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575400148	chr4:1080561-1080562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111216208	chr4:1080798-1080799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186715978	chr4:1080878-1080879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182748278	chr4:1080911-1080912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111216249	chr4:1080924-1080925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184801767	chr4:1080935-1080936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540033010	chr4:1080952-1080953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111216444	chr4:1080953-1080954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188929651	chr4:1081026-1081027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192985269	chr4:1081039-1081040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185318226	chr4:1081040-1081041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189379725	chr4:1081045-1081046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542773933	chr4:1081069-1081070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554254934	chr4:1081165-1081166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181477324	chr4:1081262-1081263	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs13136494	chr4:1081307-1081308	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs151308849	chr4:1081311-1081312	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs541337965	chr4:1081312-1081313	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs559999068	chr4:1081351-1081352	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs533310511	chr4:1081353-1081354	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs544923102	chr4:1081369-1081370	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs111436949	chr4:1081370-1081371	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs562865803	chr4:1081381-1081382	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs79329953	chr4:1081419-1081420	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs62294747	chr4:1081483-1081484	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs184166450	chr4:1081511-1081512	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs369413999	chr4:1081528-1081529	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs188409220	chr4:1081579-1081580	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs181841120	chr4:1081587-1081588	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs142733201	chr4:1081606-1081607	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs186581731	chr4:1081623-1081624	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs571525262	chr4:1081658-1081659	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs538972332	chr4:1081670-1081671	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs557187828	chr4:1081694-1081695	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs569108809	chr4:1081737-1081738	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs536321361	chr4:1081749-1081750	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs554673289	chr4:1081753-1081754	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs112883152	chr4:1081755-1081756	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs190589493	chr4:1081771-1081772	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs79277426	chr4:1081827-1081828	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs577914579	chr4:1081829-1081830	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs545320797	chr4:1081883-1081884	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs527804042	chr4:1081889-1081890	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs563523707	chr4:1081897-1081898	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs181488265	chr4:1081909-1081910	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs542726504	chr4:1081949-1081950	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs561434520	chr4:1081994-1081995	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	22297974	CNVD
Breast cancer	20932292	CNVD
Cancer	20164919	CNVD
Type 2 diabetes	21754918	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1076800-1082400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:1079400-1080400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr4:1080000-1080400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
4	chr4:1080000-1080400	Enhancers	Spleen	Spleen
5	chr4:1080200-1086000	Weak transcription	Pancreas	Pancrea
6	chr4:1080400-1081200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr4:1081200-1082600	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:1083200-1085200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:1083800-1084800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:1084200-1093400	Weak transcription	Ovary	ovary
11	chr4:1084800-1085000	Enhancers	Spleen	Spleen
12	chr4:1084800-1086200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:1085000-1088400	Weak transcription	Spleen	Spleen
14	chr4:1085600-1085800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:1085600-1085800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:1085600-1086000	Enhancers	Lung	lung
17	chr4:1085800-1086600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:1085800-1088200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr4:1086000-1086200	Enhancers	Gastric	stomach
20	chr4:1086000-1086600	Enhancers	Fetal Muscle Leg	muscle
21	chr4:1086000-1087000	Enhancers	Liver	Liver
22	chr4:1086000-1087600	Strong transcription	Pancreas	Pancrea
23	chr4:1086000-1098400	Weak transcription	Lung	lung
24	chr4:1086200-1086400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:1086200-1091400	Weak transcription	Gastric	stomach
26	chr4:1086200-1098600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr4:1086600-1087000	Weak transcription	Fetal Muscle Leg	muscle
28	chr4:1086600-1087800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr4:1087000-1088600	Enhancers	Fetal Muscle Leg	muscle

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