Variant report

Variant	nsv1004247
Chromosome Location	chr4:70004010-70032788
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:175)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:175 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:70018787-70019146	HepG2	liver:	n/a	n/a
2	CEBPB	chr4:70019860-70019969	HepG2	liver:	n/a	n/a
3	CEBPB	chr4:70019767-70020117	HepG2	liver:	n/a	n/a
4	CEBPB	chr4:70018840-70019114	HepG2	liver:	n/a	chr4:70018982-70018993 chr4:70018982-70018995
5	CTCF	chr4:70022780-70022930	HAc	cerebellar:	n/a	n/a
6	CTCF	chr4:70022819-70022930	GM13976	blood:	n/a	n/a
7	CTCF	chr4:70022680-70022830	HA-sp	spinal cord:	n/a	n/a
8	CTCF	chr4:70022749-70022895	Pancreas_OC	pancreas:	n/a	n/a
9	CTCF	chr4:70022580-70022730	HCM	heart:	n/a	n/a
10	CTCF	chr4:70022720-70022870	BE2_C	brain:	n/a	n/a
11	CTCF	chr4:70022685-70022916	HepG2	liver:	n/a	n/a
12	CTCF	chr4:70022742-70022929	HepG2	liver:	n/a	n/a
13	CTCF	chr4:70022778-70022915	GM20000	blood:	n/a	n/a
14	CTCF	chr4:70022760-70022910	HPAF	blood vessel:	n/a	n/a
15	CTCF	chr4:70022720-70022870	HepG2	liver:	n/a	n/a
16	CTCF	chr4:70022720-70022870	GM12875	blood:	n/a	n/a
17	CTCF	chr4:70022740-70022890	HPF	lung:	n/a	n/a
18	CTCF	chr4:70022777-70022857	GM12892	blood:	n/a	n/a
19	CTCF	chr4:70022760-70022910	HA-sp	spinal cord:	n/a	n/a
20	CTCF	chr4:70022760-70022910	HEK293	kidney:	n/a	n/a
21	CTCF	chr4:70022800-70022950	GM06990	blood:	n/a	n/a
22	CTCF	chr4:70022780-70022930	GM12874	blood:	n/a	n/a
23	CTCF	chr4:70022740-70022890	HL-60	blood:	n/a	n/a
24	CTCF	chr4:70022764-70022874	SK-N-SH_RA	brain:	n/a	n/a
25	CTCF	chr4:70022814-70022880	GM10248	blood:	n/a	n/a
26	CTCF	chr4:70022780-70022930	BJ	skin:	n/a	n/a
27	CTCF	chr4:70022840-70022990	HFF-Myc	foreskin:	n/a	n/a
28	CTCF	chr4:70022780-70022930	BE2_C	brain:	n/a	n/a
29	CTCF	chr4:70022780-70022930	HMEC	breast:	n/a	n/a
30	CTCF	chr4:70022720-70022870	MCF-7	breast:	n/a	n/a
31	CTCF	chr4:70022760-70022910	GM06990	blood:	n/a	n/a
32	CTCF	chr4:70022760-70022910	NB4	blood:	n/a	n/a
33	CTCF	chr4:70022740-70022890	GM12867	blood:	n/a	n/a
34	CTCF	chr4:70022640-70022790	GM12868	blood:	n/a	n/a
35	CTCF	chr4:70022720-70022870	RPTEC	kidney:	n/a	n/a
36	CTCF	chr4:70022680-70022830	GM12864	blood:	n/a	n/a
37	CTCF	chr4:70022780-70022930	HRPEpiC	eye:	n/a	n/a
38	CTCF	chr4:70022760-70022910	GM12869	blood:	n/a	n/a
39	CTCF	chr4:70022760-70022910	HCM	heart:	n/a	n/a
40	CTCF	chr4:70022780-70022930	HCPEpiC	choroid plexus:	n/a	n/a
41	CTCF	chr4:70022736-70022909	ProgFib	skin:	n/a	n/a
42	CTCF	chr4:70022772-70022913	GM19238	blood:	n/a	n/a
43	CTCF	chr4:70022740-70022890	GM12878	blood:	n/a	n/a
44	CTCF	chr4:70022780-70022930	WERI-Rb-1	eye:	n/a	n/a
45	CTCF	chr4:70022760-70022910	WI-38	lung:	n/a	n/a
46	CTCF	chr4:70022780-70022930	HEEpiC	esophagus:	n/a	n/a
47	CTCF	chr4:70022753-70022939	K562	blood:	n/a	n/a
48	CTCF	chr4:70022720-70022870	GM12869	blood:	n/a	n/a
49	CTCF	chr4:70022760-70022910	GM12871	blood:	n/a	n/a
50	CTCF	chr4:70022700-70022850	GM12868	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:70024955..70027798-chr4:70029828..70032326,2	K562	blood:
2	chr4:70024955..70027798-chr4:70029828..70032326,2	K562	blood:
3	chr4:69997242..69999000-chr4:70001834..70004061,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000251427	TF binding region

Extended variants
information (count: 711 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:711 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569914086	chr4:70006551-70006552	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs538876388	chr4:70006595-70006596	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs140099940	chr4:70006882-70006883	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs182289993	chr4:70006898-70006899	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs150287590	chr4:70006929-70006930	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs561716083	chr4:70006947-70006948	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs530471048	chr4:70006952-70006953	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs550041236	chr4:70006996-70006997	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs563654241	chr4:70007007-70007008	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs376457436	chr4:70007029-70007030	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs532539000	chr4:70007060-70007061	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs186905268	chr4:70007064-70007065	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs537965475	chr4:70007498-70007499	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs566637693	chr4:70007500-70007501	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs192681977	chr4:70007517-70007518	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs183544799	chr4:70007527-70007528	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs138723834	chr4:70007549-70007550	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs575247608	chr4:70007550-70007551	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs113336486	chr4:70007585-70007586	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs192201700	chr4:70008321-70008322	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs183523385	chr4:70008339-70008340	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs186488030	chr4:70008340-70008341	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs560354680	chr4:70008351-70008352	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs529165021	chr4:70008369-70008370	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs141852489	chr4:70008392-70008393	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs1841041	chr4:70008400-70008401	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs189747648	chr4:70008423-70008424	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs566787670	chr4:70008427-70008428	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs182318812	chr4:70008461-70008462	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs536279597	chr4:70009095-70009096	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs556061681	chr4:70009116-70009117	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs576029983	chr4:70009131-70009132	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs76028044	chr4:70009146-70009147	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs116182783	chr4:70009171-70009172	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs113015880	chr4:70009834-70009835	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs183654379	chr4:70009889-70009890	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs77598383	chr4:70009894-70009895	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs74612082	chr4:70009904-70009905	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs140798781	chr4:70009933-70009934	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs143491871	chr4:70009956-70009957	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs140315000	chr4:70010204-70010205	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs374507728	chr4:70010250-70010251	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs184563769	chr4:70010251-70010252	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs536346399	chr4:70010259-70010260	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs189409613	chr4:70010260-70010261	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs576016358	chr4:70010272-70010273	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs114860778	chr4:70010281-70010282	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs150342954	chr4:70010282-70010283	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs142154404	chr4:70010361-70010362	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs201525644	chr4:70010369-70010370	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Multiple myeloma	16616336	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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Graft versus host disease	20877625	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Osteoporosis	20877625	CNVD
Osteoporosis	19737800	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioblastoma multiforme	21138945	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:70018400-70019400	Enhancers	Liver	Liver
2	chr4:70018600-70019400	Enhancers	HepG2	liver
3	chr4:70019400-70031200	Weak transcription	HepG2	liver
4	chr4:70025800-70026200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:70030600-70031400	Enhancers	Rectal Smooth Muscle	rectum
6	chr4:70031200-70031400	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr4:70031200-70032600	Enhancers	HepG2	liver
8	chr4:70031400-70032600	Enhancers	Fetal Intestine Large	intestine
9	chr4:70031600-70031800	Enhancers	Liver	Liver
10	chr4:70031800-70035400	Active TSS	Liver	Liver
11	chr4:70032200-70032600	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr4:70032600-70035400	Weak transcription	HepG2	liver

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