Variant report

Variant	nsv8172
Chromosome Location	chr7:86747741-86749934
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:86748494..86751720-chr7:86753396..86757160,5	K562	blood:
2	chr7:86747236..86750092-chr7:86777747..86780252,2	K562	blood:
3	chr7:86735133..86740177-chr7:86744513..86748479,5	K562	blood:
4	chr7:86746755..86750570-chr7:86763189..86766191,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DMTF1-2	chr7:86747721-86747906	NONHSAT121808

Variant related genes	Relation type
ENSG00000261462	chromatin interactions

Extended variants
information (count: 94 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578225131	chr7:86747764-86747765	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs76394489	chr7:86747775-86747776	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs533450402	chr7:86747799-86747800	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs551828928	chr7:86747822-86747823	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs1859124	chr7:86747876-86747877	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs1981536	chr7:86747889-86747890	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs139099131	chr7:86747917-86747918	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs67369823	chr7:86747926-86747927	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs138110775	chr7:86747927-86747928	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs369800105	chr7:86747928-86747929	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs370964865	chr7:86747929-86747930	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs181660771	chr7:86747945-86747946	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs140768668	chr7:86748008-86748009	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs556433457	chr7:86748021-86748022	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs529565991	chr7:86748031-86748032	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs549613768	chr7:86748086-86748087	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs375055693	chr7:86748132-86748133	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs571842427	chr7:86748187-86748188	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs545469061	chr7:86748194-86748195	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs73705040	chr7:86748197-86748198	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs138270807	chr7:86748230-86748231	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs142585059	chr7:86748259-86748260	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs562427789	chr7:86748263-86748264	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs2373388	chr7:86748298-86748299	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs541646105	chr7:86748303-86748304	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs559671219	chr7:86748397-86748398	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs185893449	chr7:86748423-86748424	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs377167979	chr7:86748473-86748474	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs533514083	chr7:86748483-86748484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551898679	chr7:86748492-86748493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570126303	chr7:86748512-86748513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530934140	chr7:86748535-86748536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs56327053	chr7:86748539-86748540	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs144742836	chr7:86748569-86748570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191391611	chr7:86748651-86748652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75075005	chr7:86748659-86748660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570546695	chr7:86748678-86748679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565537256	chr7:86748766-86748767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528823821	chr7:86748774-86748775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547098231	chr7:86748939-86748940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113457459	chr7:86748942-86748943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557441149	chr7:86748955-86748956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112282687	chr7:86749020-86749021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs116368875	chr7:86749064-86749065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs371612095	chr7:86749092-86749093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537065887	chr7:86749148-86749149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs17766011	chr7:86749169-86749170	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs569586564	chr7:86749173-86749174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs183354913	chr7:86749176-86749177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs17698411	chr7:86749197-86749198	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:74)

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
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	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
Multiple myeloma	16616336	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86743200-86752000	Weak transcription	K562	blood
2	chr7:86748000-86749000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:86748000-86749200	Enhancers	NHDF-Ad	bronchial
4	chr7:86748400-86749000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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