Variant report

Variant	nsv437031
Chromosome Location	chr7:127923778-127939461
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr7:127939408-127939596	K562	blood:	n/a	n/a
2	BHLHE40	chr7:127938259-127938392	HepG2	liver:	n/a	n/a
3	CBX3	chr7:127931732-127932059	K562	blood:	n/a	n/a
4	CBX3	chr7:127931568-127932076	K562	blood:	n/a	n/a
5	CEBPB	chr7:127930523-127930538	IMR90	lung:	n/a	chr7:127930525-127930536
6	CEBPB	chr7:127930433-127930580	HepG2	liver:	n/a	chr7:127930525-127930536
7	CEBPB	chr7:127930403-127930544	K562	blood:	n/a	chr7:127930525-127930536
8	CEBPB	chr7:127928259-127928550	IMR90	lung:	n/a	n/a
9	EP300	chr7:127938103-127938425	HepG2	liver:	n/a	n/a
10	FOXA1	chr7:127938029-127938377	HepG2	liver:	n/a	n/a
11	FOXA1	chr7:127932323-127932684	HepG2	liver:	n/a	n/a
12	FOXA2	chr7:127932146-127932867	A549	lung:	n/a	n/a
13	FOXA2	chr7:127932430-127932839	A549	lung:	n/a	n/a
14	GATA3	chr7:127928376-127928448	SH-SY5Y	brain:	n/a	n/a
15	GTF2F1	chr7:127939373-127939502	H1-hESC	embryonic stem cell:	n/a	n/a
16	HNF4A	chr7:127938172-127938410	HepG2	liver:	n/a	chr7:127938273-127938288 chr7:127938307-127938322
17	HNF4A	chr7:127938092-127938414	HepG2	liver:	n/a	chr7:127938273-127938288 chr7:127938307-127938322
18	KAP1	chr7:127931723-127932060	K562	blood:	n/a	n/a
19	MAX	chr7:127939158-127939580	H1-hESC	embryonic stem cell:	n/a	n/a
20	MYC	chr7:127939340-127939760	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr7:127924979-127924984	HepG2	liver:	n/a	n/a
22	POLR2A	chr7:127924854-127924962	HepG2	liver:	n/a	n/a
23	POLR2A	chr7:127930818-127930956	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr7:127925490-127925638	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr7:127927308-127927457	K562	blood:	n/a	n/a
26	POLR2A	chr7:127939289-127939329	Hela-S3	cervix:	n/a	n/a
27	RXRA	chr7:127938172-127938403	HepG2	liver:	n/a	n/a
28	SP1	chr7:127938030-127938471	HepG2	liver:	n/a	n/a
29	SP1	chr7:127939160-127939764	H1-hESC	embryonic stem cell:	n/a	n/a
30	SP1	chr7:127939077-127939552	H1-hESC	embryonic stem cell:	n/a	n/a
31	SPI1	chr7:127936049-127936572	GM12878	blood:	n/a	n/a
32	STAT3	chr7:127924401-127924468	MCF10A-Er-Src	breast:	n/a	n/a
33	TRIM28	chr7:127931662-127932009	K562	blood:	n/a	n/a
34	USF1	chr7:127938172-127938330	HepG2	liver:	n/a	chr7:127938268-127938279
35	USF1	chr7:127938174-127938327	HepG2	liver:	n/a	chr7:127938268-127938279

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:127937053..127939817-chr7:127940949..127943521,2	K562	blood:
2	chr7:127918920..127921450-chr7:127922562..127924355,2	MCF-7	breast:
3	chr7:127938979..127940740-chr7:127949044..127951138,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RBM28-1	chr7:127923818-127923885	NONHSAT123176
2	lnc-RBM28-1	chr7:127930781-127931619	NONHSAT123176
3	lnc-RBM28-1	chr7:127923988-127924015	XLOC_006599
4	lnc-RBM28-3	chr7:127937738-127947816	NONHSAT123178

No data

Variant related genes	Relation type
ENSG00000221429	TF binding region
OTUD1	miRNA target sites

Extended variants
information (count: 554 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:554 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7811892	chr7:127923778-127923779	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs528744879	chr7:127923787-127923788	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547107793	chr7:127923834-127923835	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs144869844	chr7:127923871-127923872	Weak transcription ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs535436810	chr7:127923892-127923893	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550975044	chr7:127923913-127923914	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569191295	chr7:127923914-127923915	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147953640	chr7:127923934-127923935	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73226701	chr7:127923957-127923958	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs57006226	chr7:127923982-127923983	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs534515875	chr7:127923984-127923985	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78430106	chr7:127923985-127923986	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143645484	chr7:127924009-127924010	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs541423904	chr7:127924078-127924079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190868734	chr7:127924083-127924084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575162559	chr7:127924105-127924106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140973136	chr7:127924165-127924166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs17151951	chr7:127924177-127924178	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs556817503	chr7:127924202-127924203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528656751	chr7:127924217-127924218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182145587	chr7:127924293-127924294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562014049	chr7:127924368-127924369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150222277	chr7:127924407-127924408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550824132	chr7:127924437-127924438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548039425	chr7:127924440-127924441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533210902	chr7:127924456-127924457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138633420	chr7:127924504-127924505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570415356	chr7:127924519-127924520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534480211	chr7:127924576-127924577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373504060	chr7:127924632-127924633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567018419	chr7:127924641-127924642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552762712	chr7:127924724-127924725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567035192	chr7:127924740-127924741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568199787	chr7:127924760-127924761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535515475	chr7:127924802-127924803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376667830	chr7:127924831-127924832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188039659	chr7:127924839-127924840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113126033	chr7:127924919-127924920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558447023	chr7:127924926-127924927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190954227	chr7:127924953-127924954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573601272	chr7:127924968-127924969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6972215	chr7:127924981-127924982	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs17151956	chr7:127924993-127924994	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs571481695	chr7:127925008-127925009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544682977	chr7:127925018-127925019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562849307	chr7:127925075-127925076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568975413	chr7:127925086-127925087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533107541	chr7:127925102-127925103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551381254	chr7:127925124-127925125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12671165	chr7:127925139-127925140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Retinitis pigmentosa	17160897	CNVD
Colorblindness	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127912200-127925200	Weak transcription	Ovary	ovary
2	chr7:127917000-127945600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:127917200-127943200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr7:127919800-127926400	Weak transcription	Liver	Liver
5	chr7:127920200-127945200	Weak transcription	Right Ventricle	heart
6	chr7:127920600-127938800	Weak transcription	Right Atrium	heart
7	chr7:127920600-127941000	Weak transcription	Primary T cells from cord blood	blood
8	chr7:127920800-127931000	Weak transcription	Fetal Lung	lung
9	chr7:127921000-127926000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr7:127921400-127939000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr7:127921600-127928400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr7:127921800-127926000	Weak transcription	Fetal Stomach	stomach
13	chr7:127921800-127944400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr7:127922000-127926200	Weak transcription	HSMM	muscle
15	chr7:127922000-127940600	Weak transcription	Brain Anterior Caudate	brain
16	chr7:127922000-127942000	Weak transcription	Brain Angular Gyrus	brain
17	chr7:127922000-127944400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr7:127922200-127924800	Weak transcription	Esophagus	oesophagus
19	chr7:127922200-127926000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr7:127922200-127926600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:127922200-127926600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:127922200-127927000	Weak transcription	Brain Substantia Nigra	brain
23	chr7:127922200-127930800	Weak transcription	Brain Germinal Matrix	brain
24	chr7:127922200-127932600	Weak transcription	Fetal Intestine Small	intestine
25	chr7:127922200-127942000	Weak transcription	Left Ventricle	heart
26	chr7:127922200-127942200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr7:127922200-127943000	Weak transcription	Dnd41	blood
28	chr7:127922200-127943200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr7:127922400-127923800	Weak transcription	Aorta	Aorta
30	chr7:127922400-127925400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr7:127922400-127932000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:127922400-127942000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:127923200-127929200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr7:127923600-127923800	ZNF genes & repeats	Pancreas	Pancrea
35	chr7:127923600-127923800	Enhancers	HSMMtube	muscle
36	chr7:127923800-127924000	ZNF genes & repeats	Aorta	Aorta
37	chr7:127923800-127924000	Enhancers	Fetal Muscle Trunk	muscle
38	chr7:127923800-127928400	Weak transcription	HSMMtube	muscle
39	chr7:127923800-127943200	Weak transcription	Pancreas	Pancrea
40	chr7:127924000-127924400	Enhancers	Fetal Muscle Leg	muscle
41	chr7:127924000-127926000	Weak transcription	Aorta	Aorta
42	chr7:127924000-127940000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr7:127924200-127924400	Enhancers	Muscle Satellite Cultured Cells	--
44	chr7:127924200-127926200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:127924200-127943800	Weak transcription	Primary hematopoietic stem cells	blood
46	chr7:127924400-127929200	Weak transcription	Fetal Muscle Leg	muscle
47	chr7:127924400-127942200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr7:127924400-127942200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr7:127924600-127939000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:127924600-127940600	Weak transcription	A549	lung

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