Variant report

Variant	nsv1011876
Chromosome Location	chr4:90851535-90952723
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	ARID3A	chr4:90915498-90916168	HepG2	liver:	n/a	n/a
2	ATF2	chr4:90948720-90949133	GM12878	blood:	n/a	n/a
3	BCL11A	chr4:90948754-90949039	GM12878	blood:	n/a	n/a
4	BCL11A	chr4:90948808-90949047	GM12878	blood:	n/a	n/a
5	BCL11A	chr4:90949609-90950037	GM12878	blood:	n/a	n/a
6	BHLHE40	chr4:90949419-90950090	GM12878	blood:	n/a	n/a
7	CEBPB	chr4:90876134-90876426	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr4:90929334-90929504	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr4:90876132-90876407	IMR90	lung:	n/a	n/a
10	CEBPB	chr4:90902659-90902905	HepG2	liver:	n/a	chr4:90902759-90902770
11	CEBPB	chr4:90876186-90876409	A549	lung:	n/a	n/a
12	CEBPB	chr4:90906567-90906708	HepG2	liver:	n/a	chr4:90906618-90906629
13	CEBPB	chr4:90919118-90919279	A549	lung:	n/a	chr4:90919170-90919181
14	CEBPB	chr4:90915689-90916023	HepG2	liver:	n/a	n/a
15	CEBPB	chr4:90909420-90909712	A549	lung:	n/a	n/a
16	CEBPB	chr4:90906484-90906786	H1-hESC	embryonic stem cell:	n/a	chr4:90906618-90906629
17	CEBPB	chr4:90909411-90909641	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPB	chr4:90919047-90919294	IMR90	lung:	n/a	chr4:90919170-90919181
19	CEBPB	chr4:90858941-90859091	IMR90	lung:	n/a	chr4:90859036-90859049 chr4:90859033-90859050
20	CEBPB	chr4:90912487-90912734	HepG2	liver:	n/a	chr4:90912607-90912618 chr4:90912604-90912621
21	CEBPB	chr4:90882186-90882605	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr4:90876104-90876433	HepG2	liver:	n/a	n/a
23	CEBPB	chr4:90919059-90919307	HepG2	liver:	n/a	chr4:90919170-90919181
24	CEBPB	chr4:90909376-90909718	IMR90	lung:	n/a	n/a
25	CEBPB	chr4:90909401-90909715	HepG2	liver:	n/a	n/a
26	CEBPB	chr4:90912492-90912717	A549	lung:	n/a	chr4:90912607-90912618 chr4:90912604-90912621
27	CEBPB	chr4:90919120-90919207	H1-hESC	embryonic stem cell:	n/a	chr4:90919170-90919181
28	CHD2	chr4:90948731-90949063	GM12878	blood:	n/a	n/a
29	CHD2	chr4:90949359-90950066	GM12878	blood:	n/a	n/a
30	CTCF	chr4:90952180-90952330	HEK293	kidney:	n/a	chr4:90952304-90952325 chr4:90952302-90952320
31	CTCF	chr4:90870987-90871360	MCF-7	breast:	n/a	chr4:90871120-90871141 chr4:90871118-90871136 chr4:90871119-90871135
32	CTCF	chr4:90946520-90946670	HEK293	kidney:	n/a	chr4:90946582-90946600 chr4:90946583-90946599 chr4:90946584-90946605 chr4:90946585-90946598
33	CTCF	chr4:90951880-90952030	HMEC	breast:	n/a	n/a
34	CTCF	chr4:90937181-90937268	Kidney_OC	kidney:	n/a	n/a
35	CTCF	chr4:90870936-90871328	GM12878	blood:	n/a	chr4:90871120-90871141 chr4:90871118-90871136 chr4:90871119-90871135
36	CTCF	chr4:90952240-90952390	HEEpiC	esophagus:	n/a	chr4:90952304-90952325 chr4:90952302-90952320
37	CTCF	chr4:90871080-90871230	MCF-7	breast:	n/a	chr4:90871120-90871141 chr4:90871118-90871136 chr4:90871119-90871135
38	CTCF	chr4:90871080-90871230	GM12864	blood:	n/a	chr4:90871120-90871141 chr4:90871118-90871136 chr4:90871119-90871135
39	CTCF	chr4:90946520-90946670	HCT-116	colon:	n/a	chr4:90946582-90946600 chr4:90946583-90946599 chr4:90946584-90946605 chr4:90946585-90946598
40	CTCF	chr4:90871040-90871190	GM06990	blood:	n/a	chr4:90871120-90871141 chr4:90871118-90871136 chr4:90871119-90871135
41	CTCF	chr4:90952233-90952363	Pancreas_OC	pancreas:	n/a	chr4:90952304-90952325 chr4:90952302-90952320
42	CTCF	chr4:90871040-90871190	HPF	lung:	n/a	chr4:90871120-90871141 chr4:90871118-90871136 chr4:90871119-90871135
43	CTCF	chr4:90952121-90952426	HepG2	liver:	n/a	chr4:90952304-90952325 chr4:90952302-90952320
44	CTCF	chr4:90946420-90946570	GM06990	blood:	n/a	n/a
45	CTCF	chr4:90871023-90871232	LNCaP	prostate:	n/a	chr4:90871120-90871141 chr4:90871118-90871136 chr4:90871119-90871135
46	CTCF	chr4:90946490-90946658	A549	lung:	n/a	chr4:90946582-90946600 chr4:90946583-90946599 chr4:90946584-90946605 chr4:90946585-90946598
47	CTCF	chr4:90870980-90871130	AG04450	lung:	n/a	n/a
48	CTCF	chr4:90946420-90946570	HRPEpiC	eye:	n/a	n/a
49	CTCF	chr4:90871017-90871271	Medullo	brain:	n/a	chr4:90871120-90871141 chr4:90871118-90871136 chr4:90871119-90871135
50	CTCF	chr4:90946467-90946679	H1-hESC	embryonic stem cell:	n/a	chr4:90946582-90946600 chr4:90946583-90946599 chr4:90946584-90946605 chr4:90946585-90946598

No.	Distal block	Cell Line	Cell type
1	chr4:90931435..90933735-chr4:90933990..90936566,2	MCF-7	breast:
2	chr4:90856349..90858314-chr4:90859079..90860878,2	MCF-7	breast:
3	chr4:90949251..90952880-chr4:91047534..91049832,6	MCF-7	breast:
4	chr4:90931435..90933735-chr4:90933990..90936566,2	MCF-7	breast:
5	chr4:90952233..90952750-chr4:91214459..91215033,2	MCF-7	breast:
6	chr4:90950024..90952887-chr4:91047925..91049735,3	MCF-7	breast:
7	chr4:90860176..90863867-chr4:90870458..90873273,3	MCF-7	breast:
8	chr4:90856349..90858314-chr4:90859079..90860878,2	MCF-7	breast:
9	chr4:90923727..90925753-chr4:91047906..91049514,2	MCF-7	breast:

Variant related genes	Relation type
MMRN1	TF binding region
ENSG00000138722	chromatin interactions
ENSG00000184305	chromatin interactions

Extended variants
information (count: 2900 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:2900 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185306456	chr4:90851583-90851584	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549666621	chr4:90851608-90851609	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561626255	chr4:90851654-90851655	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs61611959	chr4:90851676-90851677	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs200186224	chr4:90851690-90851691	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs58290676	chr4:90851692-90851693	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs397973248	chr4:90851695-90851696	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138266596	chr4:90851709-90851710	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572061620	chr4:90851850-90851851	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142586048	chr4:90851869-90851870	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537780627	chr4:90851884-90851885	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146772094	chr4:90851920-90851921	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138701589	chr4:90851957-90851958	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78051990	chr4:90852026-90852027	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142761237	chr4:90852059-90852060	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372910730	chr4:90852098-90852099	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555640309	chr4:90852120-90852121	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575193022	chr4:90852121-90852122	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537838074	chr4:90852164-90852165	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558155275	chr4:90852191-90852192	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375877079	chr4:90852199-90852200	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147345756	chr4:90852205-90852206	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189835181	chr4:90852222-90852223	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560446317	chr4:90852224-90852225	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574186080	chr4:90852248-90852249	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542904229	chr4:90852422-90852423	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563167059	chr4:90852432-90852433	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545968768	chr4:90852458-90852459	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532080037	chr4:90852528-90852529	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550574303	chr4:90852569-90852570	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147989390	chr4:90852600-90852601	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563902361	chr4:90852638-90852639	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532856481	chr4:90852643-90852644	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376945397	chr4:90852646-90852647	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546686324	chr4:90852664-90852665	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566502748	chr4:90852683-90852684	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535637367	chr4:90852684-90852685	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548804641	chr4:90852697-90852698	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113067588	chr4:90852740-90852741	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141780976	chr4:90852815-90852816	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537773983	chr4:90852817-90852818	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557700109	chr4:90852828-90852829	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571630333	chr4:90852829-90852830	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538600315	chr4:90852909-90852910	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555858649	chr4:90852915-90852916	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181819035	chr4:90852953-90852954	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564125492	chr4:90852965-90852966	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150600415	chr4:90853046-90853047	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556824545	chr4:90853049-90853050	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553911465	chr4:90853055-90853056	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	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
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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Parkinson disease	17953491	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:328 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90848200-90853600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:90849400-90851600	Genic enhancers	HUVEC	blood vessel
3	chr4:90849800-90851600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr4:90849800-90851800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr4:90850000-90851600	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr4:90850400-90851600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr4:90850400-90853600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:90850800-90851600	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr4:90851200-90851600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr4:90851200-90851600	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr4:90851200-90853000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr4:90851400-90851600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr4:90851400-90852000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:90851400-90852000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:90851400-90853200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr4:90851400-90854600	Weak transcription	Dnd41	blood
17	chr4:90851600-90855200	Strong transcription	HUVEC	blood vessel
18	chr4:90852000-90853200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:90852000-90853200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:90853000-90853600	Strong transcription	Primary hematopoietic stem cells	blood
21	chr4:90853200-90854000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
22	chr4:90853200-90854600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:90853200-90855000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:90853600-90854000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr4:90853600-90854200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:90853600-90854400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
27	chr4:90854000-90867000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:90854200-90854600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:90854400-90854800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr4:90854600-90856400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:90854600-90858400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:90854800-90856800	Strong transcription	Primary hematopoietic stem cells	blood
33	chr4:90855000-90872400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr4:90855200-90856000	Weak transcription	HUVEC	blood vessel
35	chr4:90856000-90861400	Strong transcription	HUVEC	blood vessel
36	chr4:90856400-90867000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:90856800-90878200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr4:90858400-90858800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:90858800-90859200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr4:90859200-90872600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr4:90860200-90860600	Enhancers	Fetal Lung	lung
42	chr4:90860200-90860800	Enhancers	Fetal Brain Male	brain
43	chr4:90860200-90861200	Enhancers	Fetal Brain Female	brain
44	chr4:90860600-90861200	Flanking Active TSS	Fetal Lung	lung
45	chr4:90860600-90861800	Enhancers	Brain Germinal Matrix	brain
46	chr4:90860800-90861200	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr4:90860800-90861200	Active TSS	Fetal Brain Male	brain
48	chr4:90860800-90861200	Enhancers	Fetal Stomach	stomach
49	chr4:90860800-90861400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr4:90860800-90861400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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