Variant report

Variant	nsv967452
Chromosome Location	chr7:11535987-11571414
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:11531532..11533937-chr7:11555026..11557667,2	K562	blood:
2	chr7:11556711..11559691-chr7:129780287..129783080,2	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: 1345 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1345 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191406980	chr7:11536005-11536006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138404150	chr7:11536061-11536062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543002130	chr7:11536062-11536063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558834306	chr7:11536098-11536099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs386710311	chr7:11536105-11536106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs61590731	chr7:11536137-11536138	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs75206405	chr7:11536142-11536143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs117400782	chr7:11536151-11536152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542015432	chr7:11536155-11536156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376488250	chr7:11536161-11536162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs58749252	chr7:11536182-11536183	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs28540955	chr7:11536183-11536184	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs531239931	chr7:11536185-11536186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550672155	chr7:11536208-11536209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs367739004	chr7:11536218-11536219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536730980	chr7:11536249-11536250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373875659	chr7:11536288-11536289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368033856	chr7:11536291-11536292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572327085	chr7:11536357-11536358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565881189	chr7:11536400-11536401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143997185	chr7:11536444-11536445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534767464	chr7:11536449-11536450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370103238	chr7:11536495-11536496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183168856	chr7:11536541-11536542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541308168	chr7:11536564-11536565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557934127	chr7:11536570-11536571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148308486	chr7:11536621-11536622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs61149093	chr7:11536631-11536632	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs201681410	chr7:11536632-11536633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537365407	chr7:11536696-11536697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577956819	chr7:11536735-11536736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141411001	chr7:11536744-11536745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146287126	chr7:11536749-11536750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62438214	chr7:11536767-11536768	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs542310061	chr7:11536787-11536788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62438215	chr7:11536839-11536840	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs572613897	chr7:11536853-11536854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs55733317	chr7:11536854-11536855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545227025	chr7:11536859-11536860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565496767	chr7:11536927-11536928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531077762	chr7:11536938-11536939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551294683	chr7:11536956-11536957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142572173	chr7:11536983-11536984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs367965564	chr7:11536989-11536990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568485954	chr7:11537022-11537023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530166057	chr7:11537025-11537026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547024308	chr7:11537027-11537028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145989732	chr7:11537050-11537051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75830985	chr7:11537066-11537067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187797987	chr7:11537068-11537069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11521600-11538600	Weak transcription	Pancreas	Pancrea
2	chr7:11533000-11540000	Weak transcription	Fetal Lung	lung
3	chr7:11537800-11538800	ZNF genes & repeats	Fetal Stomach	stomach
4	chr7:11538600-11538800	ZNF genes & repeats	Pancreas	Pancrea
5	chr7:11538600-11539800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:11538800-11539800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:11543400-11544000	ZNF genes & repeats	Fetal Lung	lung
8	chr7:11543600-11544000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
9	chr7:11544000-11544400	Weak transcription	Fetal Lung	lung
10	chr7:11544000-11547400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr7:11544400-11547400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr7:11544400-11549000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr7:11544800-11545000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:11544800-11545800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr7:11544800-11549000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr7:11545000-11547400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:11545200-11545600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr7:11545600-11546600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:11545800-11546200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr7:11546200-11548400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr7:11546600-11546800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr7:11546600-11546800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr7:11546800-11547200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr7:11546800-11547400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr7:11547000-11548000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:11547200-11547400	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr7:11547400-11547600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr7:11547400-11547800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr7:11547400-11548400	Enhancers	H1 Cell Line	embryonic stem cell
30	chr7:11547400-11548400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr7:11547400-11548600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:11547600-11547800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr7:11547600-11548000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr7:11547600-11548400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr7:11547800-11548000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr7:11547800-11549000	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr7:11548000-11548400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr7:11553000-11553600	Enhancers	Liver	Liver
39	chr7:11553600-11555800	Weak transcription	Liver	Liver
40	chr7:11555400-11555600	Enhancers	Fetal Lung	lung
41	chr7:11555600-11577800	Weak transcription	Fetal Lung	lung
42	chr7:11555800-11556000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:11555800-11556600	Enhancers	Liver	Liver
44	chr7:11556000-11556200	Enhancers	H9 Cell Line	embryonic stem cell
45	chr7:11556000-11556200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:11556000-11556200	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr7:11556200-11557400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:11556200-11557400	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr7:11556200-11557600	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr7:11556400-11557400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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