Variant report

Variant	nsv966317
Chromosome Location	chr4:128988788-128991118
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:179)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:179 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:128990194-128990353	GM12891	blood:	n/a	n/a
2	CTCF	chr4:128990180-128990330	A549	lung:	n/a	n/a
3	CTCF	chr4:128990180-128990330	HFF	foreskin:	n/a	n/a
4	CTCF	chr4:128990104-128990445	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr4:128990200-128990350	GM12869	blood:	n/a	n/a
6	CTCF	chr4:128990033-128990476	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr4:128990014-128990533	MCF-7	breast:	n/a	n/a
8	CTCF	chr4:128990180-128990330	Caco-2	colon:	n/a	n/a
9	CTCF	chr4:128990180-128990330	GM06990	blood:	n/a	n/a
10	CTCF	chr4:128990193-128990369	LNCaP	prostate:	n/a	n/a
11	CTCF	chr4:128990200-128990350	HVMF	connective:	n/a	n/a
12	CTCF	chr4:128990180-128990330	HCFaa	heart:	n/a	n/a
13	CTCF	chr4:128990209-128990355	GM13976	blood:	n/a	n/a
14	CTCF	chr4:128990180-128990330	HCT-116	colon:	n/a	n/a
15	CTCF	chr4:128990236-128990362	Kidney_OC	kidney:	n/a	n/a
16	CTCF	chr4:128990180-128990330	GM12872	blood:	n/a	n/a
17	CTCF	chr4:128990180-128990330	HVMF	connective:	n/a	n/a
18	CTCF	chr4:128990180-128990330	AG09319	gingival:	n/a	n/a
19	CTCF	chr4:128990180-128990330	AG04449	skin:	n/a	n/a
20	CTCF	chr4:128990240-128990390	GM12878	blood:	n/a	n/a
21	CTCF	chr4:128989707-128990646	A549	lung:	n/a	n/a
22	CTCF	chr4:128990180-128990330	HPAF	blood vessel:	n/a	n/a
23	CTCF	chr4:128990200-128990350	GM12871	blood:	n/a	n/a
24	CTCF	chr4:128990057-128990492	MCF-7	breast:	n/a	n/a
25	CTCF	chr4:128990180-128990330	GM12864	blood:	n/a	n/a
26	CTCF	chr4:128990180-128990330	GM12865	blood:	n/a	n/a
27	CTCF	chr4:128990160-128990310	GM12870	blood:	n/a	n/a
28	CTCF	chr4:128990168-128990392	NHEK	skin:	n/a	n/a
29	CTCF	chr4:128990108-128990467	K562	blood:	n/a	n/a
30	CTCF	chr4:128990220-128990370	HCM	heart:	n/a	n/a
31	CTCF	chr4:128990140-128990290	GM06990	blood:	n/a	n/a
32	CTCF	chr4:128989982-128990588	SK-N-SH	brain:	n/a	n/a
33	CTCF	chr4:128990180-128990330	BJ	skin:	n/a	n/a
34	CTCF	chr4:128990140-128990290	GM12878	blood:	n/a	n/a
35	CTCF	chr4:128990195-128990388	GM12878	blood:	n/a	n/a
36	CTCF	chr4:128990180-128990330	AG10803	skin:	n/a	n/a
37	CTCF	chr4:128990180-128990330	HFF-Myc	foreskin:	n/a	n/a
38	CTCF	chr4:128990180-128990330	NHLF	lung:	n/a	n/a
39	CTCF	chr4:128990180-128990330	NHDF-neo	bronchial:	n/a	n/a
40	CTCF	chr4:128990189-128990362	GM19240	blood:	n/a	n/a
41	CTCF	chr4:128990220-128990370	HFF-Myc	foreskin:	n/a	n/a
42	CTCF	chr4:128990200-128990350	HCT-116	colon:	n/a	n/a
43	CTCF	chr4:128990180-128990330	GM12873	blood:	n/a	n/a
44	CTCF	chr4:128990187-128990375	LNCaP	prostate:	n/a	n/a
45	CTCF	chr4:128990160-128990310	AG04449	skin:	n/a	n/a
46	CTCF	chr4:128990180-128990330	AG09309	skin:	n/a	n/a
47	CTCF	chr4:128990171-128990373	Fibrobl	skin:	n/a	n/a
48	CTCF	chr4:128990400-128990550	GM12864	blood:	n/a	n/a
49	CTCF	chr4:128990180-128990330	GM12869	blood:	n/a	n/a
50	CTCF	chr4:128990250-128990350	GM10266	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:128989561..128991603-chr4:128996891..128999505,2	K562	blood:
2	chr4:128981378..128983346-chr4:128988931..128991317,2	MCF-7	breast:
3	chr4:128980866..128984600-chr4:128984636..128991176,13	K562	blood:
4	chr4:128980375..128984020-chr4:128989687..128993521,7	MCF-7	breast:
5	chr4:128800414..128802153-chr4:128991108..128993535,2	K562	blood:
6	chr4:128986963..128989911-chr4:129006823..129010664,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000241651	TF binding region
ENSG00000138709	chromatin interactions
ENSG00000142731	chromatin interactions

Extended variants
information (count: 101 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200616898	chr4:128988866-128988867	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs75049357	chr4:128988876-128988877	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs77211508	chr4:128988877-128988878	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs397995348	chr4:128988878-128988879	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs74466593	chr4:128988879-128988880	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs182034618	chr4:128988890-128988891	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs113126771	chr4:128988894-128988895	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs555506680	chr4:128988927-128988928	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs115576371	chr4:128988957-128988958	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs187008037	chr4:128988989-128988990	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs145348037	chr4:128988990-128988991	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs552692579	chr4:128989001-128989002	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs571361915	chr4:128989033-128989034	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs538316771	chr4:128989063-128989064	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs114680123	chr4:128989066-128989067	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs544648434	chr4:128989081-128989082	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs190893041	chr4:128989088-128989089	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs554936826	chr4:128989100-128989101	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs562749947	chr4:128989136-128989137	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs541460390	chr4:128989174-128989175	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs559476621	chr4:128989180-128989181	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs386679396	chr4:128989191-128989192	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs180819657	chr4:128989225-128989226	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs35731115	chr4:128989253-128989254	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs185229427	chr4:128989256-128989257	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs563558553	chr4:128989296-128989297	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs531047458	chr4:128989326-128989327	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs6848998	chr4:128989327-128989328	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs561295118	chr4:128989330-128989331	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs528772196	chr4:128989331-128989332	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs529683891	chr4:128989365-128989366	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs546585861	chr4:128989374-128989375	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs140980313	chr4:128989406-128989407	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs6534660	chr4:128989411-128989412	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs539019146	chr4:128989468-128989469	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs550660804	chr4:128989493-128989494	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs567223915	chr4:128989520-128989521	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs75266192	chr4:128989521-128989522	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs145797618	chr4:128989563-128989564	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs369603898	chr4:128989578-128989579	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs554799028	chr4:128989600-128989601	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs190045006	chr4:128989686-128989687	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs373830920	chr4:128989706-128989707	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs552418435	chr4:128989721-128989722	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs566185105	chr4:128989724-128989725	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs534772408	chr4:128989773-128989774	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs140667132	chr4:128989799-128989800	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs577927666	chr4:128989837-128989838	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs560795051	chr4:128989859-128989860	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs544988295	chr4:128989870-128989871	Weak transcription	Chromatin interactive region	1 gene(s)	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
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
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
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Gastric cancer	16891809	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128983800-128990200	Weak transcription	Gastric	stomach
2	chr4:128983800-128996400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:128983800-128996600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:128983800-128996600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:128983800-129027600	Weak transcription	Brain Hippocampus Middle	brain
6	chr4:128983800-129066600	Weak transcription	Esophagus	oesophagus
7	chr4:128983800-129066600	Weak transcription	Small Intestine	intestine
8	chr4:128984000-128990400	Weak transcription	Left Ventricle	heart
9	chr4:128984000-128999000	Weak transcription	Osteobl	bone
10	chr4:128984200-128996200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr4:128984200-128997600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:128984200-128998800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr4:128984200-129000400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:128984200-129003200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr4:128984200-129003200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr4:128984200-129003200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr4:128984200-129018800	Weak transcription	A549	lung
18	chr4:128984200-129024800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr4:128984200-129029000	Weak transcription	Brain Anterior Caudate	brain
20	chr4:128984200-129035200	Weak transcription	NHLF	lung
21	chr4:128984400-128990200	Weak transcription	Fetal Stomach	stomach
22	chr4:128984400-128990400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:128984400-128996200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr4:128984400-128996200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr4:128984400-128996200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:128984400-128996200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:128984400-128996200	Weak transcription	Right Ventricle	heart
28	chr4:128984400-128996400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:128984400-128996400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:128984400-128996400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:128984400-128996400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr4:128984400-128996400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr4:128984400-128996400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr4:128984400-128996400	Weak transcription	Adipose Nuclei	Adipose
35	chr4:128984400-128996400	Weak transcription	Fetal Lung	lung
36	chr4:128984400-128996600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr4:128984400-128996600	Weak transcription	HUVEC	blood vessel
38	chr4:128984400-128996800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr4:128984400-128997400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr4:128984400-128997600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr4:128984400-128998000	Weak transcription	Colonic Mucosa	Colon
42	chr4:128984400-128999000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr4:128984400-128999000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr4:128984400-128999800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr4:128984400-129001600	Weak transcription	GM12878-XiMat	blood
46	chr4:128984400-129003200	Weak transcription	Primary B cells from cord blood	blood
47	chr4:128984400-129003200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr4:128984400-129012600	Weak transcription	Lung	lung
49	chr4:128984400-129013800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr4:128984400-129013800	Weak transcription	NHEK	skin

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