Variant report

Variant	nsv998230
Chromosome Location	chr4:90854555-90952723
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	chr4:90902659-90902905	HepG2	liver:	n/a	chr4:90902759-90902770
8	CEBPB	chr4:90858941-90859091	IMR90	lung:	n/a	chr4:90859036-90859049 chr4:90859033-90859050
9	CEBPB	chr4:90912487-90912734	HepG2	liver:	n/a	chr4:90912607-90912618 chr4:90912604-90912621
10	CEBPB	chr4:90882186-90882605	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr4:90919059-90919307	HepG2	liver:	n/a	chr4:90919170-90919181
12	CEBPB	chr4:90909376-90909718	IMR90	lung:	n/a	n/a
13	CEBPB	chr4:90906567-90906708	HepG2	liver:	n/a	chr4:90906618-90906629
14	CEBPB	chr4:90876134-90876426	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr4:90919118-90919279	A549	lung:	n/a	chr4:90919170-90919181
16	CEBPB	chr4:90915689-90916023	HepG2	liver:	n/a	n/a
17	CEBPB	chr4:90909420-90909712	A549	lung:	n/a	n/a
18	CEBPB	chr4:90919047-90919294	IMR90	lung:	n/a	chr4:90919170-90919181
19	CEBPB	chr4:90919120-90919207	H1-hESC	embryonic stem cell:	n/a	chr4:90919170-90919181
20	CEBPB	chr4:90906484-90906786	H1-hESC	embryonic stem cell:	n/a	chr4:90906618-90906629
21	CEBPB	chr4:90909411-90909641	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr4:90876186-90876409	A549	lung:	n/a	n/a
23	CEBPB	chr4:90876132-90876407	IMR90	lung:	n/a	n/a
24	CEBPB	chr4:90876104-90876433	HepG2	liver:	n/a	n/a
25	CEBPB	chr4:90912492-90912717	A549	lung:	n/a	chr4:90912607-90912618 chr4:90912604-90912621
26	CEBPB	chr4:90909401-90909715	HepG2	liver:	n/a	n/a
27	CEBPB	chr4:90929334-90929504	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD2	chr4:90949359-90950066	GM12878	blood:	n/a	n/a
29	CHD2	chr4:90948731-90949063	GM12878	blood:	n/a	n/a
30	CTCF	chr4:90946500-90946650	HEEpiC	esophagus:	n/a	chr4:90946582-90946600 chr4:90946583-90946599 chr4:90946584-90946605 chr4:90946585-90946598
31	CTCF	chr4:90871077-90871163	GM10266	blood:	n/a	chr4:90871120-90871141 chr4:90871118-90871136 chr4:90871119-90871135
32	CTCF	chr4:90952243-90952366	MCF-7	breast:	n/a	chr4:90952304-90952325 chr4:90952302-90952320
33	CTCF	chr4:90946500-90946650	NHEK	skin:	n/a	chr4:90946582-90946600 chr4:90946583-90946599 chr4:90946584-90946605 chr4:90946585-90946598
34	CTCF	chr4:90946480-90946630	HRPEpiC	eye:	n/a	chr4:90946582-90946600 chr4:90946583-90946599 chr4:90946584-90946605 chr4:90946585-90946598
35	CTCF	chr4:90871080-90871230	BE2_C	brain:	n/a	chr4:90871120-90871141 chr4:90871118-90871136 chr4:90871119-90871135
36	CTCF	chr4:90871020-90871170	GM12875	blood:	n/a	chr4:90871120-90871141 chr4:90871118-90871136 chr4:90871119-90871135
37	CTCF	chr4:90952120-90952270	HL-60	blood:	n/a	n/a
38	CTCF	chr4:90871060-90871210	HCT-116	colon:	n/a	chr4:90871120-90871141 chr4:90871118-90871136 chr4:90871119-90871135
39	CTCF	chr4:90871020-90871170	NHEK	skin:	n/a	chr4:90871120-90871141 chr4:90871118-90871136 chr4:90871119-90871135
40	CTCF	chr4:90952320-90952470	HRPEpiC	eye:	n/a	n/a
41	CTCF	chr4:90946520-90946670	HEK293	kidney:	n/a	chr4:90946582-90946600 chr4:90946583-90946599 chr4:90946584-90946605 chr4:90946585-90946598
42	CTCF	chr4:90871060-90871210	HMEC	breast:	n/a	chr4:90871120-90871141 chr4:90871118-90871136 chr4:90871119-90871135
43	CTCF	chr4:90952300-90952450	HA-sp	spinal cord:	n/a	chr4:90952304-90952325 chr4:90952302-90952320
44	CTCF	chr4:90871000-90871150	HCT-116	colon:	n/a	chr4:90871120-90871141 chr4:90871118-90871136 chr4:90871119-90871135
45	CTCF	chr4:90946480-90946630	GM12870	blood:	n/a	chr4:90946582-90946600 chr4:90946583-90946599 chr4:90946584-90946605 chr4:90946585-90946598
46	CTCF	chr4:90871040-90871190	HPF	lung:	n/a	chr4:90871120-90871141 chr4:90871118-90871136 chr4:90871119-90871135
47	CTCF	chr4:90946500-90946650	GM12868	blood:	n/a	chr4:90946582-90946600 chr4:90946583-90946599 chr4:90946584-90946605 chr4:90946585-90946598
48	CTCF	chr4:90870960-90871110	HFF	foreskin:	n/a	n/a
49	CTCF	chr4:90946540-90946690	HUVEC	blood vessel:	n/a	chr4:90946582-90946600 chr4:90946583-90946599 chr4:90946584-90946605 chr4:90946585-90946598
50	CTCF	chr4:90946480-90946630	GM12864	blood:	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	chr4:90923727..90925753-chr4:91047906..91049514,2	MCF-7	breast:
3	chr4:90952233..90952750-chr4:91214459..91215033,2	MCF-7	breast:
4	chr4:90856349..90858314-chr4:90859079..90860878,2	MCF-7	breast:
5	chr4:90949251..90952880-chr4:91047534..91049832,6	MCF-7	breast:
6	chr4:90931435..90933735-chr4:90933990..90936566,2	MCF-7	breast:
7	chr4:90860176..90863867-chr4:90870458..90873273,3	MCF-7	breast:
8	chr4:90950024..90952887-chr4:91047925..91049735,3	MCF-7	breast:
9	chr4:90856349..90858314-chr4:90859079..90860878,2	MCF-7	breast:

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

Extended variants
information (count: 2774 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:2774 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116997524	chr4:90854566-90854567	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs367631982	chr4:90854578-90854579	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555772981	chr4:90854581-90854582	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370187517	chr4:90854614-90854615	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs375301428	chr4:90854645-90854646	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs79293357	chr4:90854658-90854659	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs575316808	chr4:90854708-90854709	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs116137555	chr4:90854712-90854713	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs367857761	chr4:90854725-90854726	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs187502595	chr4:90854764-90854765	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs541269209	chr4:90854765-90854766	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs561019114	chr4:90854767-90854768	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs142649636	chr4:90854768-90854769	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs550179333	chr4:90854873-90854874	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs192934552	chr4:90854874-90854875	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs572057080	chr4:90854876-90854877	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs532616058	chr4:90854901-90854902	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs146704134	chr4:90854941-90854942	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs184945759	chr4:90854965-90854966	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs528674049	chr4:90854997-90854998	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs534888614	chr4:90855036-90855037	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548803913	chr4:90855074-90855075	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188260401	chr4:90855107-90855108	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536382691	chr4:90855118-90855119	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537374866	chr4:90855153-90855154	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555707181	chr4:90855172-90855173	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531952743	chr4:90855180-90855181	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569319940	chr4:90855311-90855312	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554338928	chr4:90855352-90855353	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192964430	chr4:90855353-90855354	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139268197	chr4:90855369-90855370	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543211072	chr4:90855462-90855463	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572149660	chr4:90855617-90855618	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141209282	chr4:90855629-90855630	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150333407	chr4:90855630-90855631	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75669623	chr4:90855662-90855663	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543752747	chr4:90855665-90855666	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372552498	chr4:90855666-90855667	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377060950	chr4:90855733-90855734	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs137898694	chr4:90855835-90855836	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs41279297	chr4:90855863-90855864	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550074999	chr4:90855864-90855865	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368939467	chr4:90855868-90855869	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143031861	chr4:90855875-90855876	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548470786	chr4:90855891-90855892	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554552651	chr4:90855927-90855928	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1038140	chr4:90855932-90855933	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs559415744	chr4:90855941-90855942	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531070238	chr4:90855963-90855964	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550865643	chr4:90855983-90855984	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:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90851400-90854600	Weak transcription	Dnd41	blood
2	chr4:90851600-90855200	Strong transcription	HUVEC	blood vessel
3	chr4:90853200-90854600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr4:90853200-90855000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:90854000-90867000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:90854200-90854600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:90854400-90854800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr4:90854600-90856400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:90854600-90858400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:90854800-90856800	Strong transcription	Primary hematopoietic stem cells	blood
11	chr4:90855000-90872400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:90855200-90856000	Weak transcription	HUVEC	blood vessel
13	chr4:90856000-90861400	Strong transcription	HUVEC	blood vessel
14	chr4:90856400-90867000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:90856800-90878200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr4:90858400-90858800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:90858800-90859200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:90859200-90872600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:90860200-90860600	Enhancers	Fetal Lung	lung
20	chr4:90860200-90860800	Enhancers	Fetal Brain Male	brain
21	chr4:90860200-90861200	Enhancers	Fetal Brain Female	brain
22	chr4:90860600-90861200	Flanking Active TSS	Fetal Lung	lung
23	chr4:90860600-90861800	Enhancers	Brain Germinal Matrix	brain
24	chr4:90860800-90861200	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr4:90860800-90861200	Active TSS	Fetal Brain Male	brain
26	chr4:90860800-90861200	Enhancers	Fetal Stomach	stomach
27	chr4:90860800-90861400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr4:90860800-90861400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr4:90861000-90861400	Enhancers	Brain Angular Gyrus	brain
30	chr4:90861000-90861800	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr4:90861200-90861600	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr4:90861200-90861800	Enhancers	Fetal Lung	lung
33	chr4:90861200-90862400	Weak transcription	Fetal Brain Female	brain
34	chr4:90861200-90862600	Enhancers	Fetal Brain Male	brain
35	chr4:90861400-90872400	Weak transcription	HUVEC	blood vessel
36	chr4:90861800-90862800	Weak transcription	Fetal Lung	lung
37	chr4:90862400-90863000	Enhancers	Fetal Brain Female	brain
38	chr4:90862800-90863200	Enhancers	Fetal Lung	lung
39	chr4:90863000-90864200	Weak transcription	Fetal Brain Female	brain
40	chr4:90863200-90864200	Weak transcription	Fetal Lung	lung
41	chr4:90864200-90864400	Enhancers	Fetal Brain Female	brain
42	chr4:90864200-90864400	Enhancers	Fetal Lung	lung
43	chr4:90867000-90867400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:90867000-90868400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr4:90867400-90872400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:90868400-90875600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr4:90869800-90870200	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr4:90872000-90872800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr4:90872200-90872400	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr4:90872400-90872800	Active TSS	iPS-15b Cell Line	embryonic stem cell

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