Variant report

Variant	nsv1027747
Chromosome Location	chr7:13333829-13395645
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:7)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:13338594..13340126-chr7:13765044..13766926,2	K562	blood:
2	chr7:13329395..13332098-chr7:13334412..13336783,2	K562	blood:
3	chr7:13376759..13379607-chr7:13379736..13381753,2	K562	blood:
4	chr7:13376759..13379607-chr7:13379736..13381753,2	K562	blood:
5	chr7:13330558..13332098-chr7:13335283..13337491,2	K562	blood:
6	chr7:13361895..13363795-chr7:13366491..13368624,2	K562	blood:
7	chr7:13361895..13363795-chr7:13366491..13368624,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ETV1-2	chr7:13378826-13379144	XLOC_006358
2	lnc-ETV1-5	chr7:13371162-13371199	NONHSAT119251
3	lnc-ETV1-2	chr7:13379728-13379885	XLOC_006358
4	lnc-ETV1-5	chr7:13345351-13345669	NONHSAT119251
5	lnc-ETV1-5	chr7:13346253-13346410	NONHSAT119251
6	lnc-ETV1-5	chr7:13367594-13367712	NONHSAT119251
7	lnc-ARL4A-1	chr7:13349834-13349948	XLOC_005988
8	lnc-ETV1-5	chr7:13370483-13370690	NONHSAT119251

No data

Extended variants
information (count: 1125 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1125 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530116399	chr7:13345387-13345388	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs145370881	chr7:13345412-13345413	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs554775347	chr7:13345437-13345438	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs186188176	chr7:13345462-13345463	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs543181739	chr7:13345476-13345477	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs191090990	chr7:13345488-13345489	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs573277515	chr7:13345509-13345510	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs117891535	chr7:13345532-13345533	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs111498911	chr7:13345535-13345536	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs531268771	chr7:13345575-13345576	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs550875117	chr7:13345590-13345591	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs77978337	chr7:13345598-13345599	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs529732096	chr7:13345602-13345603	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs546298501	chr7:13345609-13345610	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs559185195	chr7:13345621-13345622	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs369065424	chr7:13345623-13345624	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs58899425	chr7:13345624-13345625	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs6461021	chr7:13346284-13346285	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs574660379	chr7:13346338-13346339	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs540413289	chr7:13346370-13346371	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs150340367	chr7:13346395-13346396	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs544870013	chr7:13346410-13346411	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs542278016	chr7:13346801-13346802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76669640	chr7:13346814-13346815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs74859563	chr7:13346818-13346819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547725403	chr7:13346890-13346891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570506499	chr7:13346891-13346892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533174384	chr7:13346927-13346928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529370544	chr7:13346984-13346985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550822018	chr7:13346986-13346987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569321136	chr7:13347001-13347002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs80099432	chr7:13347015-13347016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149523757	chr7:13347063-13347064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192863989	chr7:13347079-13347080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534173025	chr7:13347111-13347112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554466699	chr7:13347131-13347132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560482707	chr7:13347174-13347175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577329452	chr7:13347207-13347208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565121423	chr7:13347216-13347217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556508443	chr7:13347219-13347220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs35478151	chr7:13347226-13347227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576200953	chr7:13347232-13347233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541985177	chr7:13347256-13347257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527485184	chr7:13347285-13347286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572075466	chr7:13347289-13347290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541305621	chr7:13347348-13347349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183679440	chr7:13347372-13347373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532564122	chr7:13347396-13347397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552818905	chr7:13347397-13347398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533112870	chr7:13347417-13347418	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	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
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13346800-13347600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr7:13347000-13347400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr7:13347000-13347400	Enhancers	Brain Germinal Matrix	brain
4	chr7:13347000-13347600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr7:13347000-13347800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr7:13347000-13348000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:13350000-13355000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr7:13350200-13353000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:13350800-13351000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:13350800-13351800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
11	chr7:13351800-13352000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
12	chr7:13354200-13354400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:13354200-13354600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:13354200-13354800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:13358400-13361000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr7:13358600-13360800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr7:13360800-13361800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:13360800-13361800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr7:13360800-13363600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr7:13361000-13361200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr7:13361000-13361400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr7:13361000-13361400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr7:13361200-13361400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr7:13361200-13361600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr7:13361200-13361800	Enhancers	Fetal Brain Male	brain
26	chr7:13361200-13362000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:13361200-13362000	Enhancers	Fetal Lung	lung
28	chr7:13361200-13362400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:13361200-13362600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr7:13361400-13362000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr7:13361400-13362200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr7:13361400-13362400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr7:13361400-13363000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr7:13361600-13362400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr7:13361600-13362400	Enhancers	H1 Cell Line	embryonic stem cell
36	chr7:13361800-13362800	Enhancers	H9 Cell Line	embryonic stem cell
37	chr7:13361800-13363800	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr7:13362000-13362800	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr7:13362200-13362600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr7:13362400-13362800	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr7:13362400-13363600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:13362800-13363400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr7:13363400-13363600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr7:13363600-13363800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:13365800-13367400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:13367400-13368600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr7:13368600-13370000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:13370000-13370400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:13370400-13371600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr7:13372200-13373800	Enhancers	Fetal Brain Male	brain

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