Variant report

Variant	nsv887610
Chromosome Location	chr7:11548082-11581121
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: 1398 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1398 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10250329	chr7:11548082-11548083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568748427	chr7:11548117-11548118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533906804	chr7:11548122-11548123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553771786	chr7:11548136-11548137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192775562	chr7:11548160-11548161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545928426	chr7:11548163-11548164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558320175	chr7:11548164-11548165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182376553	chr7:11548195-11548196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368546736	chr7:11548232-11548233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554208634	chr7:11548253-11548254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560984283	chr7:11548254-11548255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574579503	chr7:11548273-11548274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530015179	chr7:11548286-11548287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7810931	chr7:11548316-11548317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7778721	chr7:11548365-11548366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532227910	chr7:11548367-11548368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552350143	chr7:11548369-11548370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192521789	chr7:11548380-11548381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184511796	chr7:11548402-11548403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532350162	chr7:11548418-11548419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10253687	chr7:11548433-11548434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568633396	chr7:11548480-11548481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs79839582	chr7:11548488-11548489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142703847	chr7:11548495-11548496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570553386	chr7:11548557-11548558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144425107	chr7:11548570-11548571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542179843	chr7:11548578-11548579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs74879753	chr7:11548624-11548625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs6460818	chr7:11548636-11548637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531705185	chr7:11548637-11548638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114850036	chr7:11548660-11548661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554769015	chr7:11548730-11548731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190391382	chr7:11548754-11548755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540564617	chr7:11548770-11548771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374255686	chr7:11548824-11548825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560188871	chr7:11548835-11548836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs367826383	chr7:11548845-11548846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192656210	chr7:11548855-11548856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545825818	chr7:11548856-11548857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562537038	chr7:11548861-11548862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531457409	chr7:11548864-11548865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376753301	chr7:11548869-11548870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs116618016	chr7:11548884-11548885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148803198	chr7:11548885-11548886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544747868	chr7:11548925-11548926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562342304	chr7:11548946-11548947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370438890	chr7:11548947-11548948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563138860	chr7:11553033-11553034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531909508	chr7:11553083-11553084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372974673	chr7:11553084-11553085	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:212 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11544400-11549000	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr7:11544800-11549000	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr7:11546200-11548400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr7:11547400-11548400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr7:11547400-11548400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr7:11547400-11548600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:11547600-11548400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr7:11547800-11549000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr7:11548000-11548400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr7:11553000-11553600	Enhancers	Liver	Liver
11	chr7:11553600-11555800	Weak transcription	Liver	Liver
12	chr7:11555400-11555600	Enhancers	Fetal Lung	lung
13	chr7:11555600-11577800	Weak transcription	Fetal Lung	lung
14	chr7:11555800-11556000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:11555800-11556600	Enhancers	Liver	Liver
16	chr7:11556000-11556200	Enhancers	H9 Cell Line	embryonic stem cell
17	chr7:11556000-11556200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:11556000-11556200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr7:11556200-11557400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:11556200-11557400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr7:11556200-11557600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr7:11556400-11557400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:11556600-11560800	Weak transcription	Liver	Liver
24	chr7:11557200-11558200	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr7:11557400-11558000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr7:11557400-11558000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:11557400-11558200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr7:11557400-11558200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:11557400-11558200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:11557400-11558200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr7:11557400-11558400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr7:11557400-11558400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr7:11557400-11558400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr7:11557400-11558800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr7:11557600-11558000	Enhancers	H9 Cell Line	embryonic stem cell
36	chr7:11557600-11558200	Enhancers	H1 Cell Line	embryonic stem cell
37	chr7:11557600-11558200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr7:11557600-11558200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:11558000-11569000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr7:11558200-11559000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr7:11558200-11559600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:11558200-11563400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:11558200-11567400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr7:11558400-11559400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr7:11558400-11566600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr7:11558800-11559200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr7:11559000-11559600	Active TSS	A549	lung
48	chr7:11559000-11560600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr7:11559200-11559800	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr7:11559400-11559800	Enhancers	HUES64 Cell Line	embryonic stem cell

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