Variant report

Variant	nsv887608
Chromosome Location	chr7:11544610-11564201
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: 747 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:747 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6943841	chr7:11544610-11544611	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564808015	chr7:11544635-11544636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116995966	chr7:11544640-11544641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564729101	chr7:11544641-11544642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533428743	chr7:11544664-11544665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6944001	chr7:11544687-11544688	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs55928740	chr7:11544736-11544737	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs577591114	chr7:11544755-11544756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76199984	chr7:11544792-11544793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575249632	chr7:11544808-11544809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190298685	chr7:11544813-11544814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6944156	chr7:11544819-11544820	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs150694001	chr7:11544857-11544858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372637920	chr7:11544891-11544892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577151324	chr7:11544892-11544893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116739575	chr7:11544901-11544902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs180699519	chr7:11544929-11544930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186087208	chr7:11544976-11544977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572736804	chr7:11544978-11544979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541425988	chr7:11545004-11545005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561745018	chr7:11545032-11545033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545102834	chr7:11545044-11545045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572023892	chr7:11545059-11545060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200864043	chr7:11545073-11545074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541154067	chr7:11545076-11545077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200969278	chr7:11545088-11545089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148095009	chr7:11545113-11545114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191945713	chr7:11545148-11545149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533393391	chr7:11545236-11545237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs74551768	chr7:11545289-11545290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs139946576	chr7:11545304-11545305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563065914	chr7:11545314-11545315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529615693	chr7:11545336-11545337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549089711	chr7:11545348-11545349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576745594	chr7:11545362-11545363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs377501819	chr7:11545407-11545408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs57906196	chr7:11545417-11545418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs111412721	chr7:11545440-11545441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184210227	chr7:11545484-11545485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534801660	chr7:11545503-11545504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76241885	chr7:11545506-11545507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370305815	chr7:11545508-11545509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200948569	chr7:11545509-11545510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185805123	chr7:11545525-11545526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539604004	chr7:11545543-11545544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs556409856	chr7:11545546-11545547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569937576	chr7:11545563-11545564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11764309	chr7:11545566-11545567	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs190606236	chr7:11545581-11545582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572046026	chr7:11545643-11545644	Weak transcription Enhancers	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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11544000-11547400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr7:11544400-11547400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr7:11544400-11549000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr7:11544800-11545000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:11544800-11545800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr7:11544800-11549000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr7:11545000-11547400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:11545200-11545600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr7:11545600-11546600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr7:11545800-11546200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr7:11546200-11548400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr7:11546600-11546800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr7:11546600-11546800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr7:11546800-11547200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr7:11546800-11547400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr7:11547000-11548000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:11547200-11547400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr7:11547400-11547600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr7:11547400-11547800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr7:11547400-11548400	Enhancers	H1 Cell Line	embryonic stem cell
21	chr7:11547400-11548400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr7:11547400-11548600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:11547600-11547800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr7:11547600-11548000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:11547600-11548400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr7:11547800-11548000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr7:11547800-11549000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr7:11548000-11548400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr7:11553000-11553600	Enhancers	Liver	Liver
30	chr7:11553600-11555800	Weak transcription	Liver	Liver
31	chr7:11555400-11555600	Enhancers	Fetal Lung	lung
32	chr7:11555600-11577800	Weak transcription	Fetal Lung	lung
33	chr7:11555800-11556000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:11555800-11556600	Enhancers	Liver	Liver
35	chr7:11556000-11556200	Enhancers	H9 Cell Line	embryonic stem cell
36	chr7:11556000-11556200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:11556000-11556200	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr7:11556200-11557400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:11556200-11557400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr7:11556200-11557600	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr7:11556400-11557400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:11556600-11560800	Weak transcription	Liver	Liver
43	chr7:11557200-11558200	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr7:11557400-11558000	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr7:11557400-11558000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:11557400-11558200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr7:11557400-11558200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:11557400-11558200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:11557400-11558200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr7:11557400-11558400	Enhancers	HUES48 Cell Line	embryonic stem cell

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