Variant report

Variant	nsv971147
Chromosome Location	chr7:140212384-140219526
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:140211069..140212654-chr7:140215627..140217284,2	MCF-7	breast:
2	chr7:140217421..140218389-chr7:140683292..140684296,3	K562	blood:
3	chr7:140216375..140219201-chr7:140345522..140347108,2	MCF-7	breast:
4	chr7:140217465..140218703-chr7:140352465..140353922,9	MCF-7	breast:
5	chr7:140216203..140218694-chr7:140353097..140355919,3	MCF-7	breast:
6	chr7:140175661..140178823-chr7:140215593..140219447,3	K562	blood:
7	chr7:140217150..140218325-chr7:140711569..140712510,4	K562	blood:
8	chr7:140217266..140218508-chr7:140352702..140354109,29	MCF-7	breast:
9	chr7:140177891..140180376-chr7:140211143..140213801,3	MCF-7	breast:
10	chr7:140217452..140219514-chr7:140224086..140226868,2	K562	blood:
11	chr7:140217592..140218317-chr7:140346880..140347484,2	MCF-7	breast:
12	chr7:140217530..140218341-chr7:140338101..140338802,2	MCF-7	breast:
13	chr7:140217094..140218389-chr7:140352924..140354007,12	K562	blood:
14	chr7:140175647..140176450-chr7:140217181..140217731,2	K562	blood:
15	chr7:140174812..140177161-chr7:140216236..140218009,2	K562	blood:
16	chr7:140211069..140212654-chr7:140215627..140217284,2	MCF-7	breast:
17	chr7:140177326..140179506-chr7:140211313..140213860,2	MCF-7	breast:
18	chr7:140216273..140216881-chr7:140352919..140353865,2	K562	blood:
19	chr7:140217454..140218853-chr7:140346568..140347735,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000133606	chromatin interactions
ENSG00000240173	chromatin interactions

Extended variants
information (count: 345 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:345 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10249780	chr7:140212391-140212392	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549762150	chr7:140212441-140212442	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs55787138	chr7:140212460-140212461	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs187726170	chr7:140212462-140212463	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs144244200	chr7:140212470-140212471	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs566203618	chr7:140212486-140212487	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs539911272	chr7:140212504-140212505	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs73490402	chr7:140212505-140212506	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs569906422	chr7:140212516-140212517	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs376731893	chr7:140212569-140212570	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs551847899	chr7:140212582-140212583	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs563870751	chr7:140212646-140212647	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs79177493	chr7:140212650-140212651	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs574261897	chr7:140212658-140212659	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs76378882	chr7:140212686-140212687	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs74889382	chr7:140212705-140212706	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs529519768	chr7:140212712-140212713	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs116152268	chr7:140212744-140212745	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs571825311	chr7:140212782-140212783	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs545452750	chr7:140212819-140212820	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs192633207	chr7:140212830-140212831	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs575999397	chr7:140212836-140212837	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs543396268	chr7:140212846-140212847	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs561868522	chr7:140212847-140212848	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs529162313	chr7:140212852-140212853	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs540054669	chr7:140212855-140212856	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs183542928	chr7:140212857-140212858	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs200001329	chr7:140212864-140212865	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs187502631	chr7:140212873-140212874	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs533472759	chr7:140212880-140212881	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs192742001	chr7:140212885-140212886	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs572080859	chr7:140212902-140212903	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs570128613	chr7:140212907-140212908	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs184593324	chr7:140212909-140212910	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs558102019	chr7:140212911-140212912	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs567886830	chr7:140212913-140212914	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs200856321	chr7:140212916-140212917	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs11769715	chr7:140212938-140212939	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs571459507	chr7:140212939-140212940	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs111403544	chr7:140212995-140212996	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs111911570	chr7:140213082-140213083	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs181721926	chr7:140213096-140213097	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs184693559	chr7:140213107-140213108	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs370190351	chr7:140213151-140213152	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs189406296	chr7:140213152-140213153	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs555312012	chr7:140213250-140213251	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs9770740	chr7:140213254-140213255	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs575033646	chr7:140213255-140213256	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs182013874	chr7:140213259-140213260	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs186508757	chr7:140213270-140213271	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
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	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Bladder cancer	21909424	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell acute lymphoblastic leukemia	16673021	CNVD
Cancer	21183584	CNVD
Intracranial ependymoma	16609018	CNVD
Non-small cell lung cancer	21829676	CNVD
Developmental delay	19490664	CNVD
Pancreatitis	20877625	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Low-grade astrocytoma	19016743	CNVD
Medulloblastoma	16968546	CNVD
Pilocytic astrocytoma	18408760	CNVD
Idiopathic chronic pancreatitis	19584086	CNVD
Pediatric low-grade astrocytoma	19016743	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Gastric cancer	16891809	CNVD
Cancer	17440070	CNVD
Astrocytoma	18398503	CNVD
Melanoma	19671679	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19826477	CNVD
Melanoma	19509136	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:266 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140205800-140225400	Weak transcription	Spleen	Spleen
2	chr7:140206800-140233200	Weak transcription	Brain Angular Gyrus	brain
3	chr7:140207000-140212400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr7:140207000-140241000	Weak transcription	Fetal Brain Male	brain
5	chr7:140207200-140216600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:140207200-140217200	Weak transcription	Fetal Intestine Small	intestine
7	chr7:140207200-140217400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:140207200-140217400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:140207200-140217400	Weak transcription	Fetal Lung	lung
10	chr7:140207200-140218000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:140207200-140218000	Weak transcription	NHLF	lung
12	chr7:140207200-140219200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr7:140207800-140217200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:140207800-140218000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr7:140208000-140215000	Weak transcription	Fetal Stomach	stomach
16	chr7:140208000-140217200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:140208000-140218000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr7:140208400-140213800	Weak transcription	Colon Smooth Muscle	Colon
19	chr7:140208600-140212400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr7:140208600-140212400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr7:140208600-140219200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:140209000-140217800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:140210800-140220000	Weak transcription	Brain Anterior Caudate	brain
24	chr7:140211600-140225600	Weak transcription	NH-A	brain
25	chr7:140211800-140212400	Enhancers	Colonic Mucosa	Colon
26	chr7:140211800-140212400	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr7:140211800-140212600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr7:140211800-140212600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:140211800-140212600	Enhancers	Duodenum Mucosa	Duodenum
30	chr7:140211800-140212800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:140211800-140212800	Enhancers	Placenta	Placenta
32	chr7:140211800-140212800	Enhancers	K562	blood
33	chr7:140212000-140212400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:140212000-140212600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr7:140212000-140212800	Enhancers	Fetal Muscle Trunk	muscle
36	chr7:140212200-140212400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
37	chr7:140212200-140212600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:140212200-140212600	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr7:140212200-140212600	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr7:140212200-140212600	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr7:140212200-140212600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr7:140212200-140212600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr7:140212200-140212600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:140212200-140212600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:140212200-140212600	Enhancers	Esophagus	oesophagus
46	chr7:140212200-140212600	Enhancers	Fetal Intestine Large	intestine
47	chr7:140212200-140212600	Enhancers	Left Ventricle	heart
48	chr7:140212200-140212600	Enhancers	Lung	lung
49	chr7:140212200-140212600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr7:140212200-140212600	Enhancers	Right Atrium	heart

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