Variant report

Variant	nsv1017925
Chromosome Location	chr7:11345119-11358235
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:8)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:11352516..11354876-chr7:11367458..11369669,2	MCF-7	breast:
2	chr7:11349044..11351457-chr7:11357652..11360171,2	MCF-7	breast:
3	chr7:11346706..11349910-chr7:11350007..11353700,4	K562	blood:
4	chr7:11346706..11349320-chr7:11350007..11352839,2	K562	blood:
5	chr7:11349044..11351457-chr7:11357652..11360171,2	MCF-7	breast:
6	chr7:11346706..11349910-chr7:11350007..11353700,4	K562	blood:
7	chr7:11337762..11340036-chr7:11346341..11348579,2	K562	blood:
8	chr7:11346706..11349320-chr7:11350007..11352839,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PHF14-7	chr7:11349080-11349292	NONHSAT119217
2	lnc-PHF14-7	chr7:11348441-11348653	FPKM1_group_29119_transcript_1
3	lnc-PHF14-7	chr7:11348370-11348437	NONHSAT119217
4	lnc-PHF14-7	chr7:11348370-11348437	FPKM1_group_29119_transcript_1
5	lnc-PHF14-6	chr7:11344275-11345327	NONHSAT119216

No data

Extended variants
information (count: 576 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:576 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2353814	chr7:11345119-11345120	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112259522	chr7:11345132-11345133	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs2353815	chr7:11345148-11345149	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs145559183	chr7:11345160-11345161	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs148852708	chr7:11345161-11345162	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs376895378	chr7:11345189-11345190	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs561582246	chr7:11345214-11345215	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs146945214	chr7:11345227-11345228	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs557810783	chr7:11345234-11345235	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs2883288	chr7:11345241-11345242	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs147568540	chr7:11345247-11345248	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs562714528	chr7:11345248-11345249	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs374642504	chr7:11345305-11345306	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs531460177	chr7:11345347-11345348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542167061	chr7:11345349-11345350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141927126	chr7:11345350-11345351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145751351	chr7:11345353-11345354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186458157	chr7:11345402-11345403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191303238	chr7:11345415-11345416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376596483	chr7:11345453-11345454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs28420281	chr7:11345502-11345503	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs114619097	chr7:11345504-11345505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116280972	chr7:11345514-11345515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535713993	chr7:11345559-11345560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182612466	chr7:11345590-11345591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566063644	chr7:11345591-11345592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374411845	chr7:11345615-11345616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534695681	chr7:11345649-11345650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs55660609	chr7:11345655-11345656	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs536167939	chr7:11345686-11345687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs578005169	chr7:11345690-11345691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533084000	chr7:11345692-11345693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537557552	chr7:11345720-11345721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10228545	chr7:11345722-11345723	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs148175164	chr7:11345770-11345771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542073025	chr7:11345813-11345814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142009002	chr7:11345923-11345924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563714353	chr7:11345950-11345951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529230242	chr7:11345974-11345975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572408933	chr7:11346005-11346006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540985960	chr7:11346009-11346010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs117628784	chr7:11346031-11346032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532858399	chr7:11346050-11346051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115354722	chr7:11346054-11346055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563270302	chr7:11346116-11346117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186546116	chr7:11346210-11346211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549215946	chr7:11346225-11346226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566025074	chr7:11346232-11346233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534998341	chr7:11346254-11346255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77981225	chr7:11346282-11346283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11335000-11352800	Weak transcription	Liver	Liver
2	chr7:11351800-11352400	Enhancers	Colon Smooth Muscle	Colon
3	chr7:11352800-11353600	Strong transcription	Liver	Liver
4	chr7:11353000-11353200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:11353000-11353600	Enhancers	Adipose Nuclei	Adipose
6	chr7:11353400-11354400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:11353600-11361400	Weak transcription	Liver	Liver
8	chr7:11353600-11367600	Weak transcription	Adipose Nuclei	Adipose
9	chr7:11354400-11355800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr7:11354400-11357200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:11354800-11355600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr7:11354800-11355800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr7:11354800-11356200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:11355000-11355400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:11355000-11355400	Enhancers	GM12878-XiMat	blood
16	chr7:11355000-11355800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr7:11355000-11355800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr7:11355000-11356000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:11355200-11355600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr7:11355200-11355800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:11355400-11356000	Flanking Active TSS	GM12878-XiMat	blood
22	chr7:11355800-11357000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:11356000-11357200	Enhancers	GM12878-XiMat	blood
24	chr7:11356200-11357000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:11357000-11357200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:11357000-11357200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:11357200-11357400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:11357200-11357600	Flanking Active TSS	GM12878-XiMat	blood
29	chr7:11357400-11357600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:11357600-11358200	Enhancers	GM12878-XiMat	blood
31	chr7:11357600-11367000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:11358200-11360200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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