Variant report

Variant	nsv888671
Chromosome Location	chr7:85343307-85570519
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:85513282..85514931-chr7:85515657..85518081,2	K562	blood:
2	chr7:85518932..85520222-chr7:86098724..86099479,6	MCF-7	breast:
3	chr7:84670766..84671527-chr7:85480999..85481548,2	MCF-7	breast:
4	chr7:84670210..84671310-chr7:85458944..85460023,3	MCF-7	breast:
5	chr7:85373526..85376335-chr7:85378810..85381383,2	K562	blood:
6	chr7:85556969..85559949-chr7:85562063..85564200,2	K562	blood:
7	chr7:85253799..85255323-chr7:85392933..85394931,2	K562	blood:
8	chr7:84659852..84660474-chr7:85458932..85459657,2	MCF-7	breast:
9	chr7:85522405..85523206-chr7:86098665..86099240,2	MCF-7	breast:
10	chr7:85513282..85514931-chr7:85515657..85518081,2	K562	blood:
11	chr7:85183273..85184394-chr7:85379037..85380205,4	MCF-7	breast:
12	chr7:85564186..85565687-chr8:22597359..22599914,2	MCF-7	breast:
13	chr7:85556969..85559949-chr7:85562063..85564200,2	K562	blood:
14	chr7:84659833..84660559-chr7:85458909..85459420,2	MCF-7	breast:
15	chr7:85393175..85394828-chr7:85402335..85404296,2	K562	blood:
16	chr7:84652105..84652692-chr7:85458869..85459474,2	MCF-7	breast:
17	chr7:85393175..85394828-chr7:85402335..85404296,2	K562	blood:
18	chr7:84670634..84671600-chr7:85379520..85380121,2	MCF-7	breast:
19	chr7:85519463..85520587-chr7:86098657..86099580,4	MCF-7	breast:
20	chr7:85373526..85376335-chr7:85378810..85381383,2	K562	blood:
21	chr7:85519420..85520975-chr7:86097643..86099272,2	MCF-7	breast:
22	chr7:84659939..84660879-chr7:85480443..85481564,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000153993	chromatin interactions

Extended variants
information (count: 3886 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:3886 , 50 per page) page: 1 2 3 4 5 6 7 ... 78

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4330610	chr7:85343307-85343308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs79333606	chr7:85343351-85343352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527563952	chr7:85343355-85343356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554762514	chr7:85343389-85343390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532707817	chr7:85343395-85343396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540553788	chr7:85343417-85343418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369084327	chr7:85343420-85343421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565610655	chr7:85343439-85343440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577166138	chr7:85343440-85343441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11982109	chr7:85343533-85343534	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs564273124	chr7:85343542-85343543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562930790	chr7:85343558-85343559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530233157	chr7:85343613-85343614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549172659	chr7:85343643-85343644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191376573	chr7:85343648-85343649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533288493	chr7:85343661-85343662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528325001	chr7:85343701-85343702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184162225	chr7:85343738-85343739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189385533	chr7:85343739-85343740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367992806	chr7:85343779-85343780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538204060	chr7:85343787-85343788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530589756	chr7:85343797-85343798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550174052	chr7:85343818-85343819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548661250	chr7:85343826-85343827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75451799	chr7:85343835-85343836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568581596	chr7:85343874-85343875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74659967	chr7:85343879-85343880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554683139	chr7:85343896-85343897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs5885490	chr7:85343942-85343943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373017921	chr7:85343949-85343950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs397695576	chr7:85343954-85343955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200357946	chr7:85343955-85343956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201300508	chr7:85343957-85343958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113479827	chr7:85343963-85343964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73199164	chr7:85343968-85343969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558938667	chr7:85343969-85343970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs58628354	chr7:85343970-85343971	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs544583533	chr7:85343976-85343977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556618422	chr7:85343983-85343984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570154134	chr7:85344006-85344007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574916299	chr7:85344019-85344020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542329773	chr7:85344038-85344039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560678035	chr7:85344039-85344040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535896913	chr7:85344055-85344056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373692355	chr7:85344096-85344097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115525055	chr7:85344097-85344098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377604025	chr7:85344139-85344140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534490011	chr7:85344156-85344157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532293609	chr7:85344189-85344190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149053391	chr7:85344227-85344228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:330 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:85343000-85345400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:85345400-85345800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:85345400-85345800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:85345800-85349000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:85345800-85349800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:85348600-85349000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:85348800-85349200	Enhancers	Hela-S3	cervix
8	chr7:85348800-85350800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:85348800-85351200	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr7:85349000-85349800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:85349000-85350200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr7:85349000-85351000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:85349200-85349400	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr7:85349200-85349400	Enhancers	A549	lung
15	chr7:85349200-85349600	Flanking Active TSS	Hela-S3	cervix
16	chr7:85349200-85349600	Enhancers	NHEK	skin
17	chr7:85349200-85349800	Enhancers	Adipose Nuclei	Adipose
18	chr7:85349200-85350800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr7:85349200-85350800	Enhancers	Fetal Lung	lung
20	chr7:85349400-85349600	Enhancers	Fetal Kidney	kidney
21	chr7:85349400-85349800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr7:85349400-85349800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr7:85349400-85349800	Enhancers	HMEC	breast
24	chr7:85349400-85350200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr7:85349400-85350200	Flanking Active TSS	A549	lung
26	chr7:85349400-85350800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr7:85349600-85350000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:85349600-85350400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:85349600-85350400	Enhancers	Hela-S3	cervix
30	chr7:85349600-85351000	Weak transcription	Fetal Kidney	kidney
31	chr7:85349800-85350800	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr7:85349800-85350800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:85350000-85350600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr7:85350200-85350800	Enhancers	A549	lung
35	chr7:85350800-85351600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:85350800-85352200	Weak transcription	A549	lung
37	chr7:85351200-85351400	Enhancers	Fetal Kidney	kidney
38	chr7:85351600-85351800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:85351800-85352400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:85352200-85352400	Enhancers	A549	lung
41	chr7:85352400-85352600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:85352600-85354400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:85354400-85355400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:85358800-85359400	Enhancers	A549	lung
45	chr7:85358800-85360200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:85359400-85359800	Flanking Active TSS	A549	lung
47	chr7:85359800-85360000	Enhancers	A549	lung
48	chr7:85359800-85360200	Enhancers	Brain Germinal Matrix	brain
49	chr7:85360000-85361400	Weak transcription	A549	lung
50	chr7:85360200-85362000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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