Variant report

Variant	nsv1020765
Chromosome Location	chr7:11522119-11573756
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:11556711..11559691-chr7:129780287..129783080,2	K562	blood:
2	chr7:11531532..11533937-chr7:11555026..11557667,2	K562	blood:
3	chr7:11531532..11533937-chr7:11555026..11557667,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PHF14-1	chr7:11559679-11559802	ENSG00000230333.1

Variant related genes	Relation type
ENSG00000229196	chromatin interactions

Extended variants
information (count: 2084 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:2084 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2107141	chr7:11522119-11522120	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs35045824	chr7:11522121-11522122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562933852	chr7:11522131-11522132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4720990	chr7:11522155-11522156	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs79480406	chr7:11522178-11522179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181834758	chr7:11522225-11522226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78501410	chr7:11522262-11522263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138992368	chr7:11522266-11522267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186394305	chr7:11522326-11522327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554114581	chr7:11522333-11522334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113007892	chr7:11522340-11522341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574108540	chr7:11522359-11522360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75127769	chr7:11522360-11522361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142156527	chr7:11522377-11522378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532733756	chr7:11522408-11522409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs17164653	chr7:11522422-11522423	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs370944452	chr7:11522440-11522441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374301838	chr7:11522483-11522484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548923292	chr7:11522484-11522485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10486133	chr7:11522525-11522526	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs144769116	chr7:11522535-11522536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547847860	chr7:11522553-11522554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148540268	chr7:11522594-11522595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539931578	chr7:11522602-11522603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79776957	chr7:11522607-11522608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142886503	chr7:11522615-11522616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537711919	chr7:11522638-11522639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150637242	chr7:11522666-11522667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574350986	chr7:11522688-11522689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144615834	chr7:11522699-11522700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147852741	chr7:11522704-11522705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576825677	chr7:11522715-11522716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73284774	chr7:11522722-11522723	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs190978144	chr7:11522723-11522724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371081502	chr7:11522738-11522739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576727420	chr7:11522755-11522756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542526295	chr7:11522780-11522781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145256212	chr7:11522799-11522800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527682277	chr7:11522838-11522839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571387931	chr7:11522928-11522929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373671350	chr7:11522932-11522933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533240038	chr7:11522952-11522953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549876532	chr7:11522985-11522986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568694354	chr7:11523031-11523032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367812383	chr7:11523043-11523044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537674878	chr7:11523089-11523090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74931076	chr7:11523146-11523147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548073622	chr7:11523147-11523148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75086238	chr7:11523163-11523164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79299293	chr7:11523169-11523170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Melanoma	18172304	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Autism	22495309	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:207 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11480400-11523200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:11514200-11522200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr7:11514200-11531600	Weak transcription	Fetal Lung	lung
4	chr7:11514800-11523000	Weak transcription	Placenta	Placenta
5	chr7:11520200-11523600	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr7:11520400-11525000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:11521600-11538600	Weak transcription	Pancreas	Pancrea
8	chr7:11522200-11522600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr7:11523600-11524000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr7:11523600-11524000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr7:11525000-11526200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:11525200-11525600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:11525200-11525600	Enhancers	Brain Anterior Caudate	brain
14	chr7:11526200-11526800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:11527600-11528000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr7:11527600-11530000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr7:11527600-11530200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr7:11528000-11528200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr7:11528000-11530000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr7:11528000-11530200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr7:11528000-11530400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr7:11528200-11528600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr7:11528200-11530200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr7:11528400-11528800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:11528400-11529200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:11528400-11529400	Enhancers	H1 Cell Line	embryonic stem cell
27	chr7:11528400-11529400	Enhancers	H9 Cell Line	embryonic stem cell
28	chr7:11528400-11530000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr7:11528600-11528800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr7:11528600-11529400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr7:11528600-11529400	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr7:11528800-11529200	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr7:11528800-11529400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:11528800-11531400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr7:11529000-11529400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr7:11529200-11529400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:11529200-11529400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr7:11529400-11529800	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr7:11530000-11532000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr7:11530200-11531200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr7:11530200-11531400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr7:11531200-11533000	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr7:11531400-11531600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr7:11531400-11531600	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr7:11531400-11531600	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr7:11531400-11531800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr7:11531400-11531800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:11531600-11532000	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr7:11531600-11532200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr7:11531600-11532400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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