Variant report

Variant	nsv1018102
Chromosome Location	chr7:67494709-67526914
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:3)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:67481428..67483133-chr7:67494967..67497635,2	K562	blood:
2	chr7:67512380..67514514-chr7:67515837..67517783,2	MCF-7	breast:
3	chr7:67512380..67514514-chr7:67515837..67517783,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STAG3L4-2	chr7:67497578-67497677	NONHSAT121292
2	lnc-STAG3L4-2	chr7:67496551-67496679	NONHSAT121292
3	lnc-STAG3L4-2	chr7:67496551-67496679	XLOC_006139
4	lnc-STAG3L4-2	chr7:67521810-67521838	NONHSAT121292
5	lnc-STAG3L4-2	chr7:67497578-67497677	XLOC_006139
6	lnc-STAG3L4-2	chr7:67496551-67496705	NONHSAT121293

No data

Extended variants
information (count: 513 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:513 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73132557	chr7:67494833-67494834	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185290579	chr7:67494856-67494857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs527897272	chr7:67494933-67494934	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs541599371	chr7:67494971-67494972	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs571707896	chr7:67494992-67494993	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs538665773	chr7:67495023-67495024	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs73700833	chr7:67495048-67495049	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs190298330	chr7:67495050-67495051	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs148805440	chr7:67495088-67495089	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs528834603	chr7:67495098-67495099	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs549031097	chr7:67495122-67495123	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs565947345	chr7:67495162-67495163	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs551281252	chr7:67496558-67496559	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs142737328	chr7:67496559-67496560	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs572043023	chr7:67496560-67496561	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs530650528	chr7:67496579-67496580	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs543113586	chr7:67496586-67496587	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs550341649	chr7:67496594-67496595	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs570100455	chr7:67496599-67496600	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs563546089	chr7:67496608-67496609	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs532554918	chr7:67496622-67496623	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs17145028	chr7:67496640-67496641	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs147382678	chr7:67496652-67496653	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs552482810	chr7:67496664-67496665	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs10264160	chr7:67496694-67496695	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs558504544	chr7:67496697-67496698	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs574853944	chr7:67497584-67497585	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs537590626	chr7:67497600-67497601	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs12531826	chr7:67497602-67497603	Inactive region	lncRNA	n/a	Overlapped CNVs	mRNA abundance
30	rs139708678	chr7:67497624-67497625	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs59324664	chr7:67497626-67497627	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs551855665	chr7:67498026-67498027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574089810	chr7:67498079-67498080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112592806	chr7:67498086-67498087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571668165	chr7:67498115-67498116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs374775999	chr7:67498132-67498133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145235606	chr7:67498147-67498148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs17145032	chr7:67498152-67498153	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs149177418	chr7:67498177-67498178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184439479	chr7:67498241-67498242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs17145035	chr7:67498263-67498264	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs151250369	chr7:67498278-67498279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112131104	chr7:67498314-67498315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558183311	chr7:67498322-67498323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs6942436	chr7:67498336-67498337	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs576504112	chr7:67498348-67498349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188948561	chr7:67498361-67498362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs118185527	chr7:67498365-67498366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188042362	chr7:67503295-67503296	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs12698652	chr7:67503308-67503309	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
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
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
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	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
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	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
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:67494800-67495200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:67498000-67498400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:67503200-67504200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:67503200-67504400	Enhancers	HepG2	liver
5	chr7:67503200-67504800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:67503200-67504800	Flanking Active TSS	A549	lung
7	chr7:67503400-67504200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:67503400-67504200	Enhancers	NH-A	brain
9	chr7:67503400-67504800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:67503800-67504600	Enhancers	NHEK	skin
11	chr7:67504000-67504400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:67504000-67504600	Enhancers	Fetal Kidney	kidney
13	chr7:67504200-67506400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:67504800-67505000	Enhancers	A549	lung
15	chr7:67504800-67506600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:67505000-67506200	Weak transcription	A549	lung
17	chr7:67506200-67506600	Enhancers	A549	lung
18	chr7:67506400-67506800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:67506600-67507000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:67506600-67508400	Weak transcription	A549	lung
21	chr7:67506800-67507000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:67507600-67509200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr7:67508400-67509200	Enhancers	A549	lung
24	chr7:67521600-67521800	Enhancers	H9 Cell Line	embryonic stem cell
25	chr7:67521600-67521800	Enhancers	Stomach Smooth Muscle	stomach
26	chr7:67521800-67522800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr7:67522800-67523200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr7:67522800-67523600	Enhancers	H9 Cell Line	embryonic stem cell
29	chr7:67522800-67523600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr7:67522800-67523800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr7:67522800-67523800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr7:67522800-67523800	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr7:67522800-67523800	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr7:67522800-67523800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr7:67523000-67523400	Enhancers	H1 Cell Line	embryonic stem cell
36	chr7:67523000-67523800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:67524400-67525800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:67525600-67526200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr7:67525600-67526600	Enhancers	Dnd41	blood
40	chr7:67525800-67531400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links