Variant report

Variant	nsv981853
Chromosome Location	chr7:137057411-137080952
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:137063607-137063660	Kidney_OC	kidney:	n/a	n/a
2	E2F4	chr7:137076656-137077262	MCF10A-Er-Src	breast:	n/a	n/a
3	EP300	chr7:137058304-137058612	SK-N-SH_RA	brain:	n/a	n/a
4	GATA2	chr7:137078533-137078804	SH-SY5Y	brain:	n/a	chr7:137078678-137078688 chr7:137078675-137078691 chr7:137078675-137078691 chr7:137078672-137078693
5	GATA3	chr7:137074394-137074506	SH-SY5Y	brain:	n/a	n/a
6	GATA3	chr7:137058169-137058772	SK-N-SH	brain:	n/a	n/a
7	GATA3	chr7:137074867-137074921	SH-SY5Y	brain:	n/a	n/a
8	JUN	chr7:137059091-137059094	K562	blood:	n/a	n/a
9	MAFK	chr7:137060660-137060904	HepG2	liver:	n/a	n/a
10	MAFK	chr7:137060718-137060899	HepG2	liver:	n/a	n/a
11	POLR2A	chr7:137066429-137066464	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr7:137071044-137071209	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr7:137058726-137058926	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr7:137077233-137077269	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr7:137080391-137080429	A549	lung:	n/a	n/a
16	REST	chr7:137059658-137059896	H1-hESC	embryonic stem cell:	n/a	n/a
17	REST	chr7:137059675-137059954	H1-hESC	embryonic stem cell:	n/a	n/a
18	ZNF384	chr7:137060136-137060225	GM12878	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:137075954-137076004	MCF10A-Er-Src	breast:	n/a
2	chr7:137071850-137071900	NHBE	bronchial:	n/a
3	chr7:137075954-137076004	HMEC	breast:	n/a
4	chr7:137075954-137076004	HRE	kidney:	n/a
5	chr7:137075954-137076004	PFSK-1	brain:	n/a
6	chr7:137071850-137071900	NH-A	brain:	n/a
7	chr7:137075954-137076004	PANC-1	pancreas:	n/a
8	chr7:137071850-137071900	HRPEpiC	eye:	n/a
9	chr7:137071850-137071900	HRE	kidney:	n/a
10	chr7:137075954-137076004	GM12892	blood:	n/a
11	chr7:137071850-137071900	HL-60	blood:	n/a
12	chr7:137071850-137071900	SK-N-MC	brain:	n/a
13	chr7:137071850-137071900	AG04449	skin:	fetal
14	chr7:137075954-137076004	HepG2	liver:	n/a
15	chr7:137075954-137076004	AoSMC	blood vessel:	n/a
16	chr7:137071850-137071900	Jurkat	blood:	n/a
17	chr7:137071850-137071900	Hela-S3	cervix:	n/a
18	chr7:137075954-137076004	HRPEpiC	eye:	n/a
19	chr7:137071850-137071900	NT2-D1	testis:	n/a
20	chr7:137071850-137071900	HPAEpiC	pulmonary alveolar:	n/a
21	chr7:137071850-137071900	PrEC	prostate:	n/a
22	chr7:137075954-137076004	SK-N-MC	brain:	n/a
23	chr7:137071850-137071900	NB4	blood:	n/a
24	chr7:137071850-137071900	HepG2	liver:	n/a
25	chr7:137075954-137076004	NHDF-neo	bronchial:	n/a
26	chr7:137075954-137076004	HPAEpiC	pulmonary alveolar:	n/a
27	chr7:137071850-137071900	BJ	skin:	n/a
28	chr7:137075954-137076004	GM12878	blood:	n/a
29	chr7:137071850-137071900	SK-N-SH_RA	brain:	n/a
30	chr7:137075954-137076004	AG09309	skin:	n/a
31	chr7:137071850-137071900	HIPEpiC	eye:	n/a
32	chr7:137071850-137071900	PANC-1	pancreas:	n/a
33	chr7:137071850-137071900	HCF	heart:	n/a
34	chr7:137071850-137071900	HUVEC	blood vessel:	n/a
35	chr7:137075954-137076004	HUVEC	blood vessel:	n/a
36	chr7:137071850-137071900	AG04450	lung:	fetal
37	chr7:137071850-137071900	U87	brain:	n/a
38	chr7:137075954-137076004	AG09319	gingival:	n/a
39	chr7:137075954-137076004	AG04449	skin:	fetal
40	chr7:137075954-137076004	SK-N-SH	brain:	n/a
41	chr7:137075954-137076004	U87	brain:	n/a
42	chr7:137071850-137071900	HCT-116	colon:	n/a
43	chr7:137071850-137071900	HCM	heart:	n/a
44	chr7:137075954-137076004	HEEpiC	esophagus:	n/a
45	chr7:137071850-137071900	HEK293	kidney:	embryo
46	chr7:137071850-137071900	K562	blood:	n/a
47	chr7:137075954-137076004	SKMC	muscle:	n/a
48	chr7:137075954-137076004	HNPCEpiC	eye:	n/a
49	chr7:137075954-137076004	Jurkat	blood:	n/a
50	chr7:137075954-137076004	HCT-116	colon:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:137066170..137068802-chr7:137069316..137071052,2	K562	blood:
2	chr7:137066170..137068802-chr7:137069316..137071052,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHRM2-3	chr7:137065787-137068924	NONHSAT123583

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	DGKI	hsa-miR-26b-5p	chr7:137074394-137074416

Variant related genes	Relation type
DGKI	TF binding region
DGKI	CpG island

Extended variants
information (count: 614 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:614 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192623243	chr7:137059811-137059812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs573367085	chr7:137059845-137059846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140777440	chr7:137059846-137059847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7804988	chr7:137059860-137059861	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs575170776	chr7:137059884-137059885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184546416	chr7:137059889-137059890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34790152	chr7:137059894-137059895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560802472	chr7:137059902-137059903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533236178	chr7:137059905-137059906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540442980	chr7:137059908-137059909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1669020	chr7:137059921-137059922	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs548591597	chr7:137059972-137059973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529065972	chr7:137059990-137059991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1669021	chr7:137059995-137059996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548443748	chr7:137060001-137060002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569680174	chr7:137060020-137060021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530812009	chr7:137060027-137060028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536625898	chr7:137060057-137060058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189318677	chr7:137060059-137060060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34168452	chr7:137060130-137060131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551604626	chr7:137060131-137060132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34840147	chr7:137060192-137060193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11351228	chr7:137060193-137060194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs71176398	chr7:137060208-137060209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35953736	chr7:137060280-137060281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539775109	chr7:137060293-137060294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115132734	chr7:137060300-137060301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570226697	chr7:137060326-137060327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs74382036	chr7:137060348-137060349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs143224855	chr7:137060355-137060356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs36091851	chr7:137060356-137060357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531844322	chr7:137060435-137060436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs4628192	chr7:137060459-137060460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555178499	chr7:137060510-137060511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575253331	chr7:137060520-137060521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544249977	chr7:137060527-137060528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557752791	chr7:137060552-137060553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74766508	chr7:137060569-137060570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540564303	chr7:137060596-137060597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1647174	chr7:137065925-137065926	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs565987280	chr7:137065932-137065933	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs73730604	chr7:137065937-137065938	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs373098286	chr7:137066040-137066041	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs68095536	chr7:137066041-137066042	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs80210643	chr7:137066104-137066105	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs190096435	chr7:137066152-137066153	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs568368906	chr7:137066156-137066157	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs181851355	chr7:137066189-137066190	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs114674343	chr7:137066232-137066233	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs577010845	chr7:137066242-137066243	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Neuroticism	17667963	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute myeloid leukemia	17237825	CNVD
Esophageal cancer	21851588	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21990379	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137059800-137060600	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr7:137066000-137066200	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr7:137066000-137066200	Enhancers	HSMM	muscle
4	chr7:137066200-137084800	Weak transcription	HSMM	muscle
5	chr7:137066400-137066600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr7:137068600-137071200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr7:137068800-137069000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr7:137068800-137069000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr7:137069000-137071200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr7:137069200-137071200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:137069600-137075000	Weak transcription	Osteobl	bone
12	chr7:137069600-137075200	Weak transcription	Aorta	Aorta
13	chr7:137070000-137070800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:137070200-137087000	Weak transcription	Brain Angular Gyrus	brain
15	chr7:137070400-137071000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:137070400-137074200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:137070800-137075200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:137071000-137083400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:137071200-137072400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr7:137071200-137072400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr7:137071200-137072400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr7:137071200-137072400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr7:137071200-137074400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr7:137071400-137072400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr7:137071400-137072400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr7:137071800-137075200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:137072000-137072400	Enhancers	H1 Cell Line	embryonic stem cell
28	chr7:137072400-137074800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr7:137072400-137077000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr7:137072400-137077200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr7:137072400-137077200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr7:137072800-137074600	Enhancers	Fetal Heart	heart
33	chr7:137072800-137075200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr7:137073400-137075600	Weak transcription	Adipose Nuclei	Adipose
35	chr7:137073600-137086600	Weak transcription	Fetal Brain Female	brain
36	chr7:137073800-137081200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr7:137073800-137095600	Weak transcription	HSMMtube	muscle
38	chr7:137074000-137076000	Enhancers	Fetal Stomach	stomach
39	chr7:137074000-137084800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:137074200-137076400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:137074400-137075200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
42	chr7:137074400-137084000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:137074600-137075000	Enhancers	Brain Cingulate Gyrus	brain
44	chr7:137074600-137075000	Weak transcription	Fetal Heart	heart
45	chr7:137074800-137075000	Enhancers	Brain Hippocampus Middle	brain
46	chr7:137074800-137075400	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr7:137074800-137075400	Enhancers	Fetal Lung	lung
48	chr7:137075000-137075200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:137075000-137075200	Enhancers	Fetal Heart	heart
50	chr7:137075000-137076000	Strong transcription	Osteobl	bone

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