Variant report

Variant	nsv887375
Chromosome Location	chr7:4591812-4646250
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:4)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr20:52556259..52556926-chr7:4599215..4599761,2	MCF-7	breast:
2	chr7:4613003..4615813-chr7:4681464..4683495,2	MCF-7	breast:
3	chr7:4601107..4601677-chr7:4670928..4671456,2	MCF-7	breast:
4	chr7:4642981..4645443-chr7:4649025..4651972,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RADIL-2	chr7:4645445-4645678	NONHSAT118868
2	lnc-RADIL-2	chr7:4645446-4645678	XLOC_006345
3	lnc-RADIL-2	chr7:4645445-4645678	FPKM1_group_29021_transcript_1

No data

Variant related genes	Relation type
ENSG00000164916	chromatin interactions
ENSG00000236352	chromatin interactions
TTC30A	miRNA target sites

Extended variants
information (count: 884 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:884 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4236360	chr7:4591812-4591813	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs77152372	chr7:4591877-4591878	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs111867809	chr7:4591916-4591917	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs546988569	chr7:4591932-4591933	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs76168099	chr7:4591968-4591969	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs557614079	chr7:4591969-4591970	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs77797897	chr7:4592009-4592010	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs553730740	chr7:4592083-4592084	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs186524566	chr7:4592089-4592090	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs192219763	chr7:4592094-4592095	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs565578510	chr7:4592117-4592118	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs139388212	chr7:4592124-4592125	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs573244584	chr7:4592163-4592164	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs144115433	chr7:4592168-4592169	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs183492966	chr7:4592177-4592178	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs575485439	chr7:4592185-4592186	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs12701744	chr7:4592194-4592195	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs77330788	chr7:4592219-4592220	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs532969275	chr7:4592220-4592221	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs12701745	chr7:4592238-4592239	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs146483760	chr7:4592251-4592252	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs528971611	chr7:4592274-4592275	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs548734402	chr7:4592277-4592278	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs543552068	chr7:4592280-4592281	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs372413997	chr7:4592311-4592312	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs73672231	chr7:4592346-4592347	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs551314102	chr7:4592386-4592387	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs113631618	chr7:4592397-4592398	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs559433765	chr7:4596438-4596439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7783297	chr7:4596450-4596451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528378268	chr7:4596459-4596460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs4723879	chr7:4596494-4596495	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs7800788	chr7:4596511-4596512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs187156506	chr7:4596522-4596523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190686652	chr7:4596527-4596528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550278705	chr7:4596528-4596529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs75759867	chr7:4596561-4596562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs35171863	chr7:4596584-4596585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs6954100	chr7:4596605-4596606	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs182811719	chr7:4596612-4596613	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs4723880	chr7:4596620-4596621	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs75837654	chr7:4596624-4596625	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs367559635	chr7:4596667-4596668	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs142346831	chr7:4596687-4596688	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs554933325	chr7:4596688-4596689	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs187157814	chr7:4596705-4596706	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs566211344	chr7:4596706-4596707	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs369306650	chr7:4596767-4596768	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs539525726	chr7:4596781-4596782	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs189983208	chr7:4596794-4596795	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Glioblastoma multiforme	21525872	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4591400-4592200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
2	chr7:4592000-4592400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:4596400-4596600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr7:4596600-4596800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr7:4596600-4597000	Enhancers	Brain Hippocampus Middle	brain
6	chr7:4596600-4597000	Enhancers	Fetal Brain Female	brain
7	chr7:4596600-4597200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr7:4596600-4597600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr7:4596600-4597600	Enhancers	Fetal Stomach	stomach
10	chr7:4596800-4597000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr7:4596800-4597200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr7:4596800-4597200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:4596800-4597200	Enhancers	Brain Germinal Matrix	brain
14	chr7:4596800-4597400	Enhancers	H9 Cell Line	embryonic stem cell
15	chr7:4597000-4597200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr7:4597000-4597200	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr7:4597000-4597600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr7:4597200-4597400	Enhancers	Brain Hippocampus Middle	brain
19	chr7:4597200-4597600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr7:4618000-4618800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:4618200-4619200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:4619200-4621400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:4621400-4621600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:4621800-4622000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr7:4640000-4640400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr7:4640400-4642400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr7:4641800-4642800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:4641800-4643000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr7:4642000-4642800	Enhancers	Fetal Brain Female	brain
30	chr7:4642200-4644000	Enhancers	Fetal Brain Male	brain
31	chr7:4642400-4642800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr7:4642400-4643000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr7:4642600-4642800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr7:4642600-4642800	Enhancers	Pancreas	Pancrea
35	chr7:4642600-4643000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:4642800-4643600	Weak transcription	Pancreas	Pancrea
37	chr7:4642800-4645800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:4642800-4646600	Weak transcription	Fetal Brain Female	brain
39	chr7:4643000-4644000	ZNF genes & repeats	Fetal Kidney	kidney
40	chr7:4643000-4646200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr7:4643600-4644000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:4643600-4644000	ZNF genes & repeats	Pancreas	Pancrea
43	chr7:4644000-4646800	Weak transcription	Fetal Brain Male	brain
44	chr7:4644000-4646800	Weak transcription	Fetal Kidney	kidney
45	chr7:4646200-4646600	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr7:4646200-4646600	Enhancers	Brain Substantia Nigra	brain
47	chr7:4646200-4647400	Enhancers	Esophagus	oesophagus
48	chr7:4646200-4647600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links