Variant report

Variant	nsv879978
Chromosome Location	chr4:132553385-132649577
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:436)
CpG islands
(count:794)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:436 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr4:132643327-132643727	GM12878	blood:	n/a	n/a
2	BATF	chr4:132584050-132584633	GM12878	blood:	n/a	n/a
3	BATF	chr4:132629088-132629714	GM12878	blood:	n/a	n/a
4	BATF	chr4:132579445-132580058	GM12878	blood:	n/a	n/a
5	BATF	chr4:132636318-132636539	GM12878	blood:	n/a	n/a
6	BATF	chr4:132579714-132580021	GM12878	blood:	n/a	n/a
7	BATF	chr4:132584215-132584596	GM12878	blood:	n/a	n/a
8	BCL11A	chr4:132623030-132623230	GM12878	blood:	n/a	n/a
9	BCL11A	chr4:132579674-132579989	GM12878	blood:	n/a	n/a
10	BCL11A	chr4:132584240-132584512	GM12878	blood:	n/a	n/a
11	BCL11A	chr4:132584212-132584619	GM12878	blood:	n/a	n/a
12	BCL11A	chr4:132579505-132580074	GM12878	blood:	n/a	n/a
13	CBX3	chr4:132604503-132604840	K562	blood:	n/a	n/a
14	CCNT2	chr4:132646067-132646366	K562	blood:	n/a	n/a
15	CEBPB	chr4:132609061-132609465	HepG2	liver:	n/a	chr4:132609272-132609283
16	CEBPB	chr4:132609086-132609424	A549	lung:	n/a	chr4:132609272-132609283
17	CEBPB	chr4:132616734-132617234	IMR90	lung:	n/a	n/a
18	CEBPB	chr4:132609089-132609439	K562	blood:	n/a	chr4:132609272-132609283
19	CEBPB	chr4:132609075-132609460	IMR90	lung:	n/a	chr4:132609272-132609283
20	CHD2	chr4:132646072-132646353	GM12878	blood:	n/a	n/a
21	CHD2	chr4:132646065-132646272	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr4:132565900-132566050	HCFaa	heart:	n/a	n/a
23	CTCF	chr4:132565960-132566110	GM12874	blood:	n/a	n/a
24	CTCF	chr4:132565820-132565970	GM12867	blood:	n/a	n/a
25	CTCF	chr4:132565848-132566097	LNCaP	prostate:	n/a	n/a
26	CTCF	chr4:132565900-132566050	HA-sp	spinal cord:	n/a	n/a
27	CTCF	chr4:132565940-132566090	HCM	heart:	n/a	n/a
28	CTCF	chr4:132565920-132566070	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr4:132565933-132565989	GM10266	blood:	n/a	n/a
30	CTCF	chr4:132565766-132566149	GM12878	blood:	n/a	n/a
31	CTCF	chr4:132565840-132565990	GM12872	blood:	n/a	n/a
32	CTCF	chr4:132565818-132566102	NHEK	skin:	n/a	n/a
33	CTCF	chr4:132626415-132626483	Kidney_OC	kidney:	n/a	n/a
34	CTCF	chr4:132565920-132566070	HPF	lung:	n/a	n/a
35	CTCF	chr4:132565857-132566068	GM19238	blood:	n/a	n/a
36	CTCF	chr4:132565860-132566010	AG04450	lung:	n/a	n/a
37	CTCF	chr4:132565859-132566014	A549	lung:	n/a	n/a
38	CTCF	chr4:132565960-132566110	AG09319	gingival:	n/a	n/a
39	CTCF	chr4:132565960-132566110	GM12865	blood:	n/a	n/a
40	CTCF	chr4:132603072-132603185	GM13976	blood:	n/a	n/a
41	CTCF	chr4:132565900-132566050	HCPEpiC	choroid plexus:	n/a	n/a
42	CTCF	chr4:132573582-132573607	GM20000	blood:	n/a	n/a
43	CTCF	chr4:132565873-132566013	GM12891	blood:	n/a	n/a
44	CTCF	chr4:132565860-132566010	GM12873	blood:	n/a	n/a
45	CTCF	chr4:132565885-132566097	Medullo	brain:	n/a	n/a
46	CTCF	chr4:132565769-132566169	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr4:132565887-132566032	GM12892	blood:	n/a	n/a
48	CTCF	chr4:132565860-132566010	HepG2	liver:	n/a	n/a
49	CTCF	chr4:132565900-132566050	HMF	breast:	n/a	n/a
50	CTCF	chr4:132565880-132566030	HBMEC	blood vessel:	n/a	n/a

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:132645884-132645934	HCM	heart:	n/a
2	chr4:132645884-132645934	HCM	heart:	n/a
3	chr4:132647861-132647911	SKMC	muscle:	n/a
4	chr4:132649551-132649601	HMEC	breast:	n/a
5	chr4:132647121-132647171	BE2_C	brain:	n/a
6	chr4:132642641-132642691	CMK	blood:	n/a
7	chr4:132643925-132643975	GM19239	blood:	n/a
8	chr4:132645884-132645934	ECC-1	luminal epithelium:	n/a
9	chr4:132647023-132647073	HCF	heart:	n/a
10	chr4:132643925-132643975	PrEC	prostate:	n/a
11	chr4:132646360-132646410	GM12878	blood:	n/a
12	chr4:132647861-132647911	HMEC	breast:	n/a
13	chr4:132643925-132643975	ovcar-3	ovarian:	n/a
14	chr4:132646360-132646410	T-47D	breast:	n/a
15	chr4:132642641-132642691	ovcar-3	ovarian:	n/a
16	chr4:132643925-132643975	Jurkat	blood:	n/a
17	chr4:132646360-132646410	Caco-2	colon:	n/a
18	chr4:132649551-132649601	PANC-1	pancreas:	n/a
19	chr4:132648785-132648835	BJ	skin:	n/a
20	chr4:132643925-132643975	HCT-116	colon:	n/a
21	chr4:132649551-132649601	GM19239	blood:	n/a
22	chr4:132649479-132649529	PFSK-1	brain:	n/a
23	chr4:132649479-132649529	HRPEpiC	eye:	n/a
24	chr4:132644348-132644398	SK-N-SH	brain:	n/a
25	chr4:132647121-132647171	T-47D	breast:	n/a
26	chr4:132643925-132643975	MCF-7	breast:	n/a
27	chr4:132642641-132642691	PANC-1	pancreas:	n/a
28	chr4:132645884-132645934	HEK293	kidney:	embryo
29	chr4:132647023-132647073	SK-N-SH_RA	brain:	n/a
30	chr4:132647861-132647911	AG04450	lung:	fetal
31	chr4:132643925-132643975	Hela-S3	cervix:	n/a
32	chr4:132649551-132649601	RPTEC	kidney:	n/a
33	chr4:132647023-132647073	SKMC	muscle:	n/a
34	chr4:132646360-132646410	PrEC	prostate:	n/a
35	chr4:132646574-132646624	MCF10A-Er-Src	breast:	n/a
36	chr4:132647861-132647911	AG04449	skin:	fetal
37	chr4:132649479-132649529	SK-N-SH	brain:	n/a
38	chr4:132647023-132647073	HRCEpiC	kidney:	n/a
39	chr4:132649479-132649529	NB4	blood:	n/a
40	chr4:132649229-132649279	HUVEC	blood vessel:	n/a
41	chr4:132646574-132646624	PFSK-1	brain:	n/a
42	chr4:132647023-132647073	PrEC	prostate:	n/a
43	chr4:132643925-132643975	HEEpiC	esophagus:	n/a
44	chr4:132647121-132647171	HIPEpiC	eye:	n/a
45	chr4:132645884-132645934	Hela-S3	cervix:	n/a
46	chr4:132644348-132644398	HMEC	breast:	n/a
47	chr4:132649551-132649601	HL-60	blood:	n/a
48	chr4:132649479-132649529	HRCEpiC	kidney:	n/a
49	chr4:132645884-132645934	BJ	skin:	n/a
50	chr4:132649479-132649529	SK-N-SH_RA	brain:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:132387674..132388400-chr4:132565905..132566424,2	MCF-7	breast:
2	chr4:132564996..132567264-chr4:132571046..132573271,2	K562	blood:
3	chr4:132012841..132013396-chr4:132565892..132566443,2	MCF-7	breast:
4	chr4:132564996..132567264-chr4:132571046..132573271,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-62N21.1.1-12	chr4:132641417-132641698	NONHSAT098317

No data

Variant related genes	Relation type
RN7SL205P	TF binding region
RN7SL205P	CpG island

Extended variants
information (count: 1026 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1026 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6534848	chr4:132553385-132553386	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533879299	chr4:132553398-132553399	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553547522	chr4:132553435-132553436	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576971271	chr4:132553470-132553471	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113472460	chr4:132553472-132553473	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186705518	chr4:132553554-132553555	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375839309	chr4:132553592-132553593	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190693941	chr4:132553685-132553686	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34044086	chr4:132553749-132553750	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576383390	chr4:132553808-132553809	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs542289219	chr4:132553813-132553814	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs562052939	chr4:132553822-132553823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs572307727	chr4:132553840-132553841	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs541515467	chr4:132553874-132553875	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs564393484	chr4:132553891-132553892	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs142890134	chr4:132553909-132553910	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs182936190	chr4:132553915-132553916	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs563668873	chr4:132553928-132553929	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs146089783	chr4:132553962-132553963	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs529542957	chr4:132553989-132553990	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs1604211	chr4:132554016-132554017	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs568059519	chr4:132554022-132554023	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs115575062	chr4:132554057-132554058	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs140130273	chr4:132554058-132554059	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs570417198	chr4:132554068-132554069	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs143756202	chr4:132554070-132554071	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs556389573	chr4:132554137-132554138	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs188628585	chr4:132554148-132554149	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs570004713	chr4:132554150-132554151	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs535757187	chr4:132554159-132554160	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs80210914	chr4:132554205-132554206	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs7657158	chr4:132554244-132554245	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs72673645	chr4:132554245-132554246	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs146882771	chr4:132554266-132554267	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs377392222	chr4:132554267-132554268	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs558263660	chr4:132554270-132554271	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs549670053	chr4:132554280-132554281	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs578020425	chr4:132554338-132554339	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs76115777	chr4:132554346-132554347	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs563533569	chr4:132554362-132554363	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs529408663	chr4:132554371-132554372	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs370734092	chr4:132554379-132554380	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs112738807	chr4:132554389-132554390	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs150056024	chr4:132554408-132554409	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs113686758	chr4:132554428-132554429	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs144910933	chr4:132554431-132554432	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs534429639	chr4:132554440-132554441	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs115261360	chr4:132554456-132554457	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs149030934	chr4:132554457-132554458	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs143103857	chr4:132554460-132554461	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	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
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	19492091	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:132551600-132553800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:132553000-132553600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr4:132553200-132554400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
4	chr4:132553800-132554600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:132554200-132554400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:132556400-132557000	Active TSS	Fetal Heart	heart
7	chr4:132556600-132557000	Enhancers	Esophagus	oesophagus
8	chr4:132565800-132566200	Enhancers	Dnd41	blood
9	chr4:132579400-132579800	Flanking Active TSS	Dnd41	blood
10	chr4:132579800-132580200	Enhancers	Dnd41	blood
11	chr4:132591600-132592000	Enhancers	HMEC	breast
12	chr4:132601600-132602000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:132602000-132604800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:132604800-132605200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:132605000-132605200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:132622000-132622800	ZNF genes & repeats	Pancreas	Pancrea
17	chr4:132622000-132623000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
18	chr4:132628200-132629000	Enhancers	Dnd41	blood
19	chr4:132629000-132629400	Flanking Active TSS	Dnd41	blood
20	chr4:132629400-132629800	Enhancers	Dnd41	blood
21	chr4:132643200-132644000	Enhancers	GM12878-XiMat	blood
22	chr4:132643400-132643600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:132643600-132644000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:132643800-132646000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:132644000-132644200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:132645800-132646800	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr4:132646000-132646400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr4:132646000-132646400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:132646000-132646400	Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr4:132646000-132646400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr4:132646000-132646400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr4:132646000-132646400	Active TSS	Ovary	ovary
33	chr4:132646000-132646400	Active TSS	Stomach Smooth Muscle	stomach
34	chr4:132646000-132647000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr4:132646200-132646400	ZNF genes & repeats	Gastric	stomach
36	chr4:132646200-132646400	Active TSS	Right Ventricle	heart
37	chr4:132646200-132646600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
38	chr4:132648200-132649200	Active TSS	HMEC	breast

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