Variant report

Variant	nsv1024485
Chromosome Location	chr7:116375336-116391582
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:1)
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	Cell Stage
1	chr7:116364575..116366893-chr7:116373638..116375353,2	MCF-7	breast:
2	chr7:116364627..116366645-chr7:116374749..116377024,2	K562	blood:
3	7:115847372-115857098..7:116389303-116393154	H1-hESC	embryonic stem cell:	embryo
4	chr7:116377829..116379958-chr7:116381598..116383954,2	MCF-7	breast:
5	chr7:116368864..116371989-chr7:116376223..116379673,4	K562	blood:
6	chr7:116374893..116376697-chr7:116378705..116380851,2	K562	blood:
7	chr7:116363120..116364860-chr7:116380706..116382231,2	MCF-7	breast:
8	chr7:116350356..116351923-chr7:116379253..116382070,2	MCF-7	breast:
9	chr7:116363196..116365443-chr7:116378264..116380063,2	MCF-7	breast:
10	chr7:116367638..116371989-chr7:116374128..116379673,5	K562	blood:
11	chr7:116370658..116372962-chr7:116376883..116379609,4	MCF-7	breast:
12	chr7:116391329..116393101-chr7:116400609..116402352,2	K562	blood:
13	chr7:116375738..116377336-chr7:116438734..116441464,2	K562	blood:
14	chr7:116382950..116385593-chr7:116392387..116393932,2	MCF-7	breast:
15	chr7:116378415..116380410-chr7:116408724..116411435,2	MCF-7	breast:
16	chr7:116374893..116376697-chr7:116378705..116380851,2	K562	blood:
17	chr7:116377829..116379958-chr7:116381598..116383954,2	MCF-7	breast:
18	7:115890993-115892266..7:116389303-116393154	H1-hESC	embryonic stem cell:	embryo
19	chr7:116366372..116369046-chr7:116379094..116381219,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CAPZA2-3	chr7:116376152-116376407	NONHSAT122904

No data

Variant related genes	Relation type
ENSG00000135269	chromatin interactions
ENSG00000105976	chromatin interactions

Extended variants
information (count: 588 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:588 , 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	rs536771698	chr7:116375338-116375339	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138369472	chr7:116375345-116375346	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527743235	chr7:116375431-116375432	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547911723	chr7:116375500-116375501	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74463536	chr7:116375544-116375545	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186031932	chr7:116375556-116375557	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554167410	chr7:116375628-116375629	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570855669	chr7:116375633-116375634	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190896373	chr7:116375687-116375688	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs34534013	chr7:116375834-116375835	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76992406	chr7:116375848-116375849	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74779712	chr7:116375849-116375850	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs397702650	chr7:116375850-116375851	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs202215501	chr7:116375852-116375853	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372435180	chr7:116375863-116375864	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546177996	chr7:116375914-116375915	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564472559	chr7:116375939-116375940	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576575889	chr7:116375977-116375978	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs377271832	chr7:116375987-116375988	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11763782	chr7:116376052-116376053	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543948763	chr7:116376076-116376077	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562244458	chr7:116376099-116376100	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529055156	chr7:116376110-116376111	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547615728	chr7:116376157-116376158	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs547297421	chr7:116376174-116376175	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs559345366	chr7:116376237-116376238	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs565701148	chr7:116376244-116376245	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs539881126	chr7:116376267-116376268	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs550934870	chr7:116376300-116376301	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs569326210	chr7:116376306-116376307	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs571369878	chr7:116376407-116376408	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs536685764	chr7:116376415-116376416	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548785730	chr7:116376429-116376430	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143572798	chr7:116376452-116376453	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs58086374	chr7:116376465-116376466	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs369018334	chr7:116376541-116376542	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114767833	chr7:116376621-116376622	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs371983332	chr7:116376688-116376689	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182237211	chr7:116376730-116376731	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540156351	chr7:116376758-116376759	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs111972263	chr7:116376799-116376800	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs3807996	chr7:116376807-116376808	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs142947751	chr7:116376813-116376814	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs543865483	chr7:116376885-116376886	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150675651	chr7:116376915-116376916	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555640115	chr7:116377002-116377003	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369522996	chr7:116377003-116377004	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574118941	chr7:116377008-116377009	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540821657	chr7:116377009-116377010	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559520663	chr7:116377026-116377027	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Autism	22495311	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
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung cancer	21911935	CNVD
Squamous cell cancer	20885788	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	22860045	CNVD
Glioblastoma multiforme	21922591	CNVD
Sudden cardiac death	19188705	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	21569311	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Myxofibrosarcoma	20639860	CNVD
Clear cell adenocarcinoma	21983935	CNVD
Gastric cancer	21097718	CNVD
Adenocarcinoma	21983935	CNVD
Lung cancer	21062933	CNVD
Prostate cancer	22341455	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:322 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116351800-116407000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr7:116357400-116409800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:116357600-116376600	Weak transcription	NH-A	brain
4	chr7:116365200-116376600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:116366600-116380800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr7:116366800-116376600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:116367000-116380800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:116367800-116381200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:116368000-116381200	Weak transcription	Placenta	Placenta
10	chr7:116368200-116377000	Weak transcription	NHDF-Ad	bronchial
11	chr7:116368200-116380800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:116368400-116376000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:116368800-116376800	Weak transcription	Fetal Intestine Large	intestine
14	chr7:116369800-116375600	Strong transcription	NHEK	skin
15	chr7:116370000-116379000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:116370600-116376800	Genic enhancers	Muscle Satellite Cultured Cells	--
17	chr7:116370800-116377200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:116370800-116377600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:116371400-116380200	Weak transcription	Hela-S3	cervix
20	chr7:116371600-116375400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr7:116371600-116379200	Genic enhancers	A549	lung
22	chr7:116371800-116376000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:116371800-116377000	Weak transcription	Fetal Intestine Small	intestine
24	chr7:116371800-116377200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:116371800-116382800	Weak transcription	Left Ventricle	heart
26	chr7:116372000-116377000	Weak transcription	Psoas Muscle	Psoas
27	chr7:116373000-116375600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr7:116373000-116375600	Enhancers	HSMMtube	muscle
29	chr7:116373200-116375600	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr7:116373200-116377600	Weak transcription	Stomach Mucosa	stomach
31	chr7:116373600-116377400	Enhancers	HSMM	muscle
32	chr7:116373800-116376600	Weak transcription	HepG2	liver
33	chr7:116374000-116375400	Enhancers	Brain Hippocampus Middle	brain
34	chr7:116374000-116377000	Enhancers	HUVEC	blood vessel
35	chr7:116374200-116375400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr7:116374200-116375400	Enhancers	Brain Cingulate Gyrus	brain
37	chr7:116374200-116375600	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr7:116374200-116375600	Enhancers	Brain Substantia Nigra	brain
39	chr7:116374200-116376800	Weak transcription	Fetal Kidney	kidney
40	chr7:116374400-116375400	Enhancers	Brain Angular Gyrus	brain
41	chr7:116374400-116375600	Enhancers	Fetal Stomach	stomach
42	chr7:116374400-116377400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:116374600-116376200	Enhancers	Fetal Muscle Leg	muscle
44	chr7:116374600-116376600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr7:116374600-116376800	Weak transcription	Liver	Liver
46	chr7:116374800-116375400	Enhancers	Pancreas	Pancrea
47	chr7:116374800-116375400	Strong transcription	HMEC	breast
48	chr7:116374800-116376000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr7:116374800-116376000	Enhancers	Gastric	stomach
50	chr7:116375000-116375400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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