Variant report

Variant	nsv879855
Chromosome Location	chr4:121691899-121747335
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	CEBPB	chr4:121704092-121704827	IMR90	lung:	n/a	chr4:121704325-121704338 chr4:121704325-121704338 chr4:121704196-121704209
2	CTCF	chr4:121693200-121693350	HA-sp	spinal cord:	n/a	n/a
3	CTCF	chr4:121693237-121693271	GM19239	blood:	n/a	n/a
4	CTCF	chr4:121730720-121730870	GM12874	blood:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
5	CTCF	chr4:121693200-121693350	Caco-2	colon:	n/a	n/a
6	CTCF	chr4:121730800-121730950	BE2_C	brain:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
7	CTCF	chr4:121693141-121693346	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr4:121693240-121693390	HPAF	blood vessel:	n/a	n/a
9	CTCF	chr4:121730820-121730970	HUVEC	blood vessel:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
10	CTCF	chr4:121693209-121693303	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr4:121693140-121693290	NHEK	skin:	n/a	n/a
12	CTCF	chr4:121693180-121693330	Caco-2	colon:	n/a	n/a
13	CTCF	chr4:121730739-121730963	HUVEC	blood vessel:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
14	CTCF	chr4:121730780-121730930	HCM	heart:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
15	CTCF	chr4:121693220-121693370	HPAF	blood vessel:	n/a	n/a
16	CTCF	chr4:121730640-121730790	GM12866	blood:	n/a	n/a
17	CTCF	chr4:121730740-121730890	HRPEpiC	eye:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
18	CTCF	chr4:121693078-121693440	GM12878	blood:	n/a	n/a
19	CTCF	chr4:121693160-121693310	HBMEC	blood vessel:	n/a	n/a
20	CTCF	chr4:121693180-121693330	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr4:121693160-121693310	GM12874	blood:	n/a	n/a
22	CTCF	chr4:121730780-121730930	AG04449	skin:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
23	CTCF	chr4:121693069-121693392	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr4:121730740-121730890	GM12864	blood:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
25	CTCF	chr4:121730800-121730950	GM12864	blood:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
26	CTCF	chr4:121730800-121730950	HEEpiC	esophagus:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
27	CTCF	chr4:121693180-121693330	GM12864	blood:	n/a	n/a
28	CTCF	chr4:121693180-121693330	GM12865	blood:	n/a	n/a
29	CTCF	chr4:121730780-121730930	HVMF	connective:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
30	CTCF	chr4:121693200-121693350	HEEpiC	esophagus:	n/a	n/a
31	CTCF	chr4:121730880-121731030	HFF-Myc	foreskin:	n/a	n/a
32	CTCF	chr4:121693140-121693290	GM12878	blood:	n/a	n/a
33	CTCF	chr4:121730760-121730910	GM12868	blood:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
34	CTCF	chr4:121693160-121693310	HepG2	liver:	n/a	n/a
35	CTCF	chr4:121730802-121730914	GM10248	blood:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
36	CTCF	chr4:121730780-121730930	AG09319	gingival:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
37	CTCF	chr4:121730809-121730911	Medullo	brain:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
38	CTCF	chr4:121730800-121730950	HMF	breast:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
39	CTCF	chr4:121730756-121730951	K562	blood:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
40	CTCF	chr4:121693220-121693370	HCT-116	colon:	n/a	n/a
41	CTCF	chr4:121730800-121730950	HPAF	blood vessel:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
42	CTCF	chr4:121730688-121730999	K562	blood:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
43	CTCF	chr4:121730751-121730955	GM12878	blood:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
44	CTCF	chr4:121730900-121731050	BE2_C	brain:	n/a	n/a
45	CTCF	chr4:121730772-121730932	Hela-S3	cervix:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
46	CTCF	chr4:121730760-121730910	AG10803	skin:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
47	CTCF	chr4:121693180-121693330	HVMF	connective:	n/a	n/a
48	CTCF	chr4:121730780-121730930	HCPEpiC	choroid plexus:	n/a	chr4:121730831-121730849 chr4:121730826-121730847
49	CTCF	chr4:121742260-121742410	GM12864	blood:	n/a	n/a
50	CTCF	chr4:121730721-121730957	H1-hESC	embryonic stem cell:	n/a	chr4:121730831-121730849 chr4:121730826-121730847

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:121745652..121748462-chr4:121750150..121752192,2	MCF-7	breast:
2	chr4:121396849..121398573-chr4:121700140..121702182,2	K562	blood:

Variant related genes	Relation type
PRDM5	TF binding region
RNU6-550P	TF binding region

Extended variants
information (count: 2313 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:2313 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs907298	chr4:121691899-121691900	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs563409123	chr4:121691919-121691920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571296156	chr4:121691981-121691982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191175588	chr4:121691989-121691990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546068410	chr4:121691993-121691994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs63083960	chr4:121692081-121692082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559591005	chr4:121692096-121692097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4374643	chr4:121692145-121692146	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs4259089	chr4:121692149-121692150	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs147019880	chr4:121692153-121692154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530098393	chr4:121692231-121692232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377207064	chr4:121692258-121692259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370393443	chr4:121692273-121692274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549847549	chr4:121692296-121692297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569842269	chr4:121692344-121692345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538842511	chr4:121692355-121692356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552535766	chr4:121692363-121692364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77874173	chr4:121692376-121692377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535031602	chr4:121692395-121692396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554515687	chr4:121692447-121692448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574470622	chr4:121692452-121692453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200134403	chr4:121692478-121692479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148064969	chr4:121692492-121692493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs117303841	chr4:121692496-121692497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577054936	chr4:121692497-121692498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7696791	chr4:121692517-121692518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554372074	chr4:121692520-121692521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574389556	chr4:121692526-121692527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532231642	chr4:121692533-121692534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541770960	chr4:121692574-121692575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562048488	chr4:121692604-121692605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7675540	chr4:121692616-121692617	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs115575385	chr4:121692641-121692642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75032055	chr4:121692686-121692687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532473723	chr4:121692784-121692785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182190758	chr4:121692785-121692786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576734958	chr4:121692812-121692813	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs545796176	chr4:121692823-121692824	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs185885801	chr4:121692828-121692829	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs535257106	chr4:121692829-121692830	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs145603417	chr4:121692905-121692906	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs528217614	chr4:121692918-121692919	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs568819604	chr4:121692963-121692964	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs190213099	chr4:121693005-121693006	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7680823	chr4:121693006-121693007	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs576964183	chr4:121693012-121693013	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182533466	chr4:121693081-121693082	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553096239	chr4:121693181-121693182	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572934308	chr4:121693190-121693191	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542035393	chr4:121693203-121693204	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	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
Colorectal cancer	20459617	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
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Clear cell renal cell carcinoma	18791270	CNVD
Acute myeloid leukemia	19651601	CNVD
Gastric cancer	16891809	CNVD
Olfactory neuroblastoma	18408657	CNVD

Chromatin state (count:399 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121671800-121697000	Weak transcription	Pancreas	Pancrea
2	chr4:121671800-121728600	Weak transcription	Left Ventricle	heart
3	chr4:121672000-121722400	Weak transcription	Right Ventricle	heart
4	chr4:121672400-121728800	Weak transcription	Aorta	Aorta
5	chr4:121672400-121728800	Weak transcription	Fetal Stomach	stomach
6	chr4:121673000-121697200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr4:121673000-121705200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:121673000-121722400	Weak transcription	Fetal Muscle Leg	muscle
9	chr4:121673000-121737400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr4:121673600-121692800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr4:121675400-121693000	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr4:121677000-121702800	Weak transcription	Gastric	stomach
13	chr4:121677000-121707800	Weak transcription	Psoas Muscle	Psoas
14	chr4:121677200-121714000	Weak transcription	Fetal Intestine Large	intestine
15	chr4:121677200-121723400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:121679600-121721800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:121686000-121705200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:121689800-121703000	Weak transcription	Brain Angular Gyrus	brain
19	chr4:121690600-121715800	Weak transcription	Lung	lung
20	chr4:121690600-121719600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:121690600-121728800	Weak transcription	Fetal Intestine Small	intestine
22	chr4:121691000-121697800	Weak transcription	Fetal Lung	lung
23	chr4:121691200-121705400	Weak transcription	HSMM	muscle
24	chr4:121691200-121722200	Weak transcription	Ovary	ovary
25	chr4:121692800-121693400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
26	chr4:121693000-121696000	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr4:121693200-121695800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr4:121693200-121696000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:121693200-121696200	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr4:121693400-121694000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr4:121693400-121696400	Enhancers	Primary hematopoietic stem cells	blood
32	chr4:121693400-121698000	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr4:121693400-121703600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr4:121693600-121696000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:121694000-121697000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr4:121694800-121695600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr4:121694800-121695600	Enhancers	GM12878-XiMat	blood
38	chr4:121695600-121695800	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr4:121695800-121730000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr4:121696000-121696400	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr4:121696200-121696600	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr4:121696400-121698200	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr4:121696600-121697400	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr4:121697000-121697200	Enhancers	Pancreas	Pancrea
45	chr4:121697000-121698200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr4:121697200-121706200	Weak transcription	Pancreas	Pancrea
47	chr4:121697800-121699200	Enhancers	Fetal Lung	lung
48	chr4:121698200-121701800	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr4:121698200-121705400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr4:121699200-121728200	Weak transcription	Fetal Lung	lung

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