Variant report

Variant	nsv819967
Chromosome Location	chr4:99813509-99817841
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:85)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:85 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr4:99813581-99813706	K562	blood:	n/a	n/a
2	CTCF	chr4:99813685-99813782	Gliobla	brain:	n/a	n/a
3	CTCF	chr4:99813660-99813810	HBMEC	blood vessel:	n/a	n/a
4	CTCF	chr4:99813660-99813810	GM12864	blood:	n/a	n/a
5	CTCF	chr4:99813620-99813770	GM12871	blood:	n/a	n/a
6	CTCF	chr4:99813660-99813810	AG04450	lung:	n/a	n/a
7	CTCF	chr4:99813680-99813830	HVMF	connective:	n/a	n/a
8	CTCF	chr4:99813660-99813810	HEK293	kidney:	n/a	n/a
9	CTCF	chr4:99813620-99813770	HCT-116	colon:	n/a	n/a
10	CTCF	chr4:99813640-99813790	WI-38	lung:	n/a	n/a
11	CTCF	chr4:99813640-99813790	HMF	breast:	n/a	n/a
12	CTCF	chr4:99813700-99813850	NHEK	skin:	n/a	n/a
13	CTCF	chr4:99813640-99813790	GM12873	blood:	n/a	n/a
14	CTCF	chr4:99813620-99813770	AG04449	skin:	n/a	n/a
15	CTCF	chr4:99813640-99813790	BE2_C	brain:	n/a	n/a
16	CTCF	chr4:99813660-99813810	HMEC	breast:	n/a	n/a
17	CTCF	chr4:99813660-99813810	HRPEpiC	eye:	n/a	n/a
18	CTCF	chr4:99813660-99813810	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chr4:99813660-99813810	HA-sp	spinal cord:	n/a	n/a
20	CTCF	chr4:99813680-99813830	HFF-Myc	foreskin:	n/a	n/a
21	CTCF	chr4:99813640-99813790	K562	blood:	n/a	n/a
22	CTCF	chr4:99813680-99813830	SAEC	small airway:	n/a	n/a
23	CTCF	chr4:99813640-99813790	GM12872	blood:	n/a	n/a
24	CTCF	chr4:99813640-99813790	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr4:99813600-99813750	HCM	heart:	n/a	n/a
26	CTCF	chr4:99813660-99813810	HPAF	blood vessel:	n/a	n/a
27	CTCF	chr4:99813700-99813850	HPF	lung:	n/a	n/a
28	CTCF	chr4:99813660-99813810	HEEpiC	esophagus:	n/a	n/a
29	CTCF	chr4:99813660-99813810	HCPEpiC	choroid plexus:	n/a	n/a
30	CTCF	chr4:99813660-99813810	GM12874	blood:	n/a	n/a
31	CTCF	chr4:99813640-99813790	BJ	skin:	n/a	n/a
32	CTCF	chr4:99813660-99813810	HCT-116	colon:	n/a	n/a
33	CTCF	chr4:99813640-99813790	AG09309	skin:	n/a	n/a
34	CTCF	chr4:99813660-99813810	AG10803	skin:	n/a	n/a
35	CTCF	chr4:99813620-99813770	HRE	kidney:	n/a	n/a
36	CTCF	chr4:99813640-99813790	HRPEpiC	eye:	n/a	n/a
37	CTCF	chr4:99813660-99813810	NHEK	skin:	n/a	n/a
38	CTCF	chr4:99813640-99813790	HCPEpiC	choroid plexus:	n/a	n/a
39	CTCF	chr4:99813680-99813830	A549	lung:	n/a	n/a
40	CTCF	chr4:99813555-99813879	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr4:99813640-99813790	HCFaa	heart:	n/a	n/a
42	CTCF	chr4:99813640-99813790	NHLF	lung:	n/a	n/a
43	CTCF	chr4:99813680-99813830	GM12875	blood:	n/a	n/a
44	CTCF	chr4:99813554-99813856	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr4:99813680-99813830	GM12865	blood:	n/a	n/a
46	CTCF	chr4:99813660-99813810	HMF	breast:	n/a	n/a
47	CTCF	chr4:99813713-99813794	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr4:99813660-99813810	GM12868	blood:	n/a	n/a
49	CTCF	chr4:99813600-99813750	HepG2	liver:	n/a	n/a
50	CTCF	chr4:99813660-99813810	AoAF	blood vessel:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:99804091..99805987-chr4:99813015..99814589,2	K562	blood:
2	chr4:99815975..99818089-chr4:99818549..99820506,2	MCF-7	breast:
3	chr4:99815882..99818717-chr4:99847695..99851571,3	K562	blood:
4	chr4:99814286..99815884-chr4:99849314..99850925,2	MCF-7	breast:
5	chr4:99618025..99620213-chr4:99815126..99816647,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-METAP1-5	chr4:99813354-99813601	l_2689_chr4:99799030-99818500_brain

No data

Variant related genes	Relation type
EIF4E	TF binding region
ENSG00000238449	chromatin interactions
ENSG00000151247	chromatin interactions
ENSG00000263923	chromatin interactions

Extended variants
information (count: 152 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:152 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551028307	chr4:99813584-99813585	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs113201242	chr4:99813604-99813605	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs573977965	chr4:99813605-99813606	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs189588502	chr4:99813628-99813629	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs555571638	chr4:99813646-99813647	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs6843279	chr4:99813649-99813650	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs534909769	chr4:99813700-99813701	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs377121058	chr4:99813704-99813705	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs72893538	chr4:99813760-99813761	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs113481170	chr4:99813761-99813762	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs72248242	chr4:99813833-99813834	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs76569902	chr4:99813849-99813850	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs563063003	chr4:99813873-99813874	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs574969402	chr4:99813921-99813922	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs143556053	chr4:99813927-99813928	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs375605278	chr4:99813947-99813948	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs528680550	chr4:99814006-99814007	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs561106691	chr4:99814028-99814029	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs147133313	chr4:99814039-99814040	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs377249235	chr4:99814056-99814057	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs78585638	chr4:99814169-99814170	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs565161251	chr4:99814183-99814184	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs181240080	chr4:99814241-99814242	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs139471963	chr4:99814248-99814249	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs569396365	chr4:99814298-99814299	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs35147490	chr4:99814299-99814300	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs530169907	chr4:99814312-99814313	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs549207382	chr4:99814314-99814315	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs567467893	chr4:99814316-99814317	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs370024972	chr4:99814350-99814351	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs535896151	chr4:99814393-99814394	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs186751525	chr4:99814409-99814410	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs112103528	chr4:99814442-99814443	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs111423699	chr4:99814517-99814518	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs113027181	chr4:99814530-99814531	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs72893541	chr4:99814544-99814545	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs190245364	chr4:99814605-99814606	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs542303755	chr4:99814616-99814617	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs554787038	chr4:99814621-99814622	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs529817552	chr4:99814627-99814628	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs573361029	chr4:99814663-99814664	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs117630886	chr4:99814805-99814806	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs182877160	chr4:99814826-99814827	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs35139793	chr4:99814864-99814865	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs13113722	chr4:99814879-99814880	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs532666670	chr4:99814881-99814882	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs186147105	chr4:99814884-99814885	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs190913706	chr4:99814912-99814913	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs577177008	chr4:99814982-99814983	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs374723453	chr4:99814988-99814989	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	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
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	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
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Cancer	17440070	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:273 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99792400-99825000	Weak transcription	Gastric	stomach
2	chr4:99796000-99826400	Weak transcription	Right Ventricle	heart
3	chr4:99796800-99814400	Weak transcription	Fetal Brain Male	brain
4	chr4:99797000-99826600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr4:99797400-99815200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:99798400-99823000	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr4:99798600-99824400	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr4:99799000-99823000	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr4:99799800-99823200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr4:99800000-99815000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:99800200-99823400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr4:99800400-99823200	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr4:99800600-99824200	Strong transcription	Primary B cells from peripheral blood	blood
14	chr4:99801400-99814400	Weak transcription	Psoas Muscle	Psoas
15	chr4:99801600-99829400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr4:99802200-99815200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:99802200-99824000	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr4:99802400-99814200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:99802600-99823800	Strong transcription	Fetal Thymus	thymus
20	chr4:99802600-99824400	Strong transcription	Dnd41	blood
21	chr4:99802800-99819600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr4:99802800-99824600	Weak transcription	Pancreas	Pancrea
23	chr4:99802800-99830200	Weak transcription	Ovary	ovary
24	chr4:99802800-99849000	Weak transcription	Aorta	Aorta
25	chr4:99803000-99825000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr4:99803200-99816000	Weak transcription	Stomach Mucosa	stomach
27	chr4:99803200-99824200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr4:99803400-99817400	Weak transcription	NHLF	lung
29	chr4:99804400-99848800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr4:99804600-99838400	Weak transcription	Esophagus	oesophagus
31	chr4:99804800-99816800	Strong transcription	HSMM	muscle
32	chr4:99804800-99820600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:99805000-99823200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr4:99805200-99832000	Weak transcription	Spleen	Spleen
35	chr4:99805600-99815200	Strong transcription	Primary hematopoietic stem cells	blood
36	chr4:99805800-99817200	Strong transcription	Osteobl	bone
37	chr4:99806000-99815800	Weak transcription	Small Intestine	intestine
38	chr4:99807200-99815400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr4:99807200-99849000	Weak transcription	Colonic Mucosa	Colon
40	chr4:99807400-99822000	Weak transcription	Hela-S3	cervix
41	chr4:99807400-99826400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr4:99807600-99824000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr4:99807800-99817800	Weak transcription	Lung	lung
44	chr4:99807800-99822200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr4:99807800-99822400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr4:99807800-99832000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr4:99808000-99815800	Weak transcription	Fetal Intestine Small	intestine
48	chr4:99808000-99817400	Weak transcription	HSMMtube	muscle
49	chr4:99808000-99822000	Weak transcription	Colon Smooth Muscle	Colon
50	chr4:99808000-99841400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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