Variant report

Variant	nsv887605
Chromosome Location	chr7:11308640-11351104
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:21)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:56332401..56332956-chr7:11310992..11311492,2	MCF-7	breast:
2	chr7:11346706..11349320-chr7:11350007..11352839,2	K562	blood:
3	chr7:11327180..11330030-chr7:11331702..11333462,2	K562	blood:
4	chr7:11337762..11340036-chr7:11346341..11348579,2	K562	blood:
5	chr7:11317077..11318618-chr7:11320125..11322658,2	K562	blood:
6	chr7:11310747..11312959-chr7:11363468..11365814,2	MCF-7	breast:
7	chr7:11300390..11302568-chr7:11306434..11309079,2	K562	blood:
8	chr7:11346706..11349910-chr7:11350007..11353700,4	K562	blood:
9	chr7:11337762..11340036-chr7:11346341..11348579,2	K562	blood:
10	chr7:11349044..11351457-chr7:11357652..11360171,2	MCF-7	breast:
11	chr7:11325170..11327885-chr7:11339729..11342510,2	K562	blood:
12	chr7:11346706..11349910-chr7:11350007..11353700,4	K562	blood:
13	chr6:27880639..27883461-chr7:11306851..11309270,2	MCF-7	breast:
14	chr7:11328573..11331475-chr7:11331531..11334464,2	K562	blood:
15	chr7:11327180..11330030-chr7:11331702..11333462,2	K562	blood:
16	chr7:11328573..11331475-chr7:11331531..11334464,2	K562	blood:
17	chr7:11305179..11307568-chr7:11307740..11310059,2	K562	blood:
18	chr7:10977336..10979714-chr7:11321113..11323195,2	K562	blood:
19	chr7:11317077..11318618-chr7:11320125..11322658,2	K562	blood:
20	chr7:11346706..11349320-chr7:11350007..11352839,2	K562	blood:
21	chr7:11325170..11327885-chr7:11339729..11342510,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PHF14-7	chr7:11349080-11349292	NONHSAT119217
2	lnc-PHF14-7	chr7:11348370-11348437	NONHSAT119217
3	lnc-PHF14-6	chr7:11342306-11343759	NONHSAT119216
4	lnc-PHF14-6	chr7:11344275-11345327	NONHSAT119216
5	lnc-PHF14-7	chr7:11348441-11348653	FPKM1_group_29119_transcript_1
6	lnc-PHF14-7	chr7:11348370-11348437	FPKM1_group_29119_transcript_1

No data

Variant related genes	Relation type
ENSG00000189043	chromatin interactions

Extended variants
information (count: 1584 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1584 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1557863	chr7:11308640-11308641	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373618684	chr7:11308661-11308662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs17613203	chr7:11308670-11308671	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs143437582	chr7:11308673-11308674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564259368	chr7:11308710-11308711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527752297	chr7:11308717-11308718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75651975	chr7:11308741-11308742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74945064	chr7:11308742-11308743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563331428	chr7:11308744-11308745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10280573	chr7:11308748-11308749	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs2158373	chr7:11308788-11308789	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs559961157	chr7:11308791-11308792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528710810	chr7:11308795-11308796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145565390	chr7:11308810-11308811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148868875	chr7:11308813-11308814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12540618	chr7:11308849-11308850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530889717	chr7:11308854-11308855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143507022	chr7:11308862-11308863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567365808	chr7:11308864-11308865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186176548	chr7:11308865-11308866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553078459	chr7:11308887-11308888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565853539	chr7:11308944-11308945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550008579	chr7:11308945-11308946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190894813	chr7:11308953-11308954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577868224	chr7:11308956-11308957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370320227	chr7:11308969-11308970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530558094	chr7:11308991-11308992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556993281	chr7:11309015-11309016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183323000	chr7:11309127-11309128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542726797	chr7:11309155-11309156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369398700	chr7:11309160-11309161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570004167	chr7:11309168-11309169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564933187	chr7:11309177-11309178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371764397	chr7:11309217-11309218	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551751633	chr7:11309218-11309219	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs80310314	chr7:11309241-11309242	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545276503	chr7:11309317-11309318	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs17164189	chr7:11309324-11309325	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs531104306	chr7:11309357-11309358	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567637078	chr7:11309371-11309372	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13222171	chr7:11309394-11309395	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs530070921	chr7:11309408-11309409	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546655945	chr7:11309431-11309432	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566876549	chr7:11309462-11309463	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534775026	chr7:11309463-11309464	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148017381	chr7:11309487-11309488	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571466004	chr7:11309495-11309496	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537320191	chr7:11309506-11309507	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142044213	chr7:11309530-11309531	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573642137	chr7:11309531-11309532	Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11301600-11309200	Weak transcription	Liver	Liver
2	chr7:11309200-11309800	Strong transcription	Liver	Liver
3	chr7:11309800-11317200	Weak transcription	Liver	Liver
4	chr7:11312000-11312800	Enhancers	K562	blood
5	chr7:11315600-11316400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr7:11315600-11316400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr7:11315800-11316200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:11315800-11316200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr7:11315800-11316400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr7:11315800-11316600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr7:11315800-11316800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:11316000-11316400	Enhancers	H9 Cell Line	embryonic stem cell
13	chr7:11316000-11316600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:11316200-11316400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr7:11316400-11316800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:11316400-11318000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:11316600-11318200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr7:11316800-11318000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:11318000-11318400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr7:11318000-11318400	Enhancers	H9 Cell Line	embryonic stem cell
21	chr7:11318000-11319000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:11318200-11318600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr7:11318200-11319200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr7:11321200-11321400	Enhancers	K562	blood
25	chr7:11321400-11322000	Flanking Active TSS	K562	blood
26	chr7:11322000-11322400	Enhancers	K562	blood
27	chr7:11327400-11328800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:11327400-11328800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:11328000-11328600	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr7:11328000-11328800	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr7:11328400-11328600	Enhancers	Pancreas	Pancrea
32	chr7:11329400-11329600	Enhancers	Pancreas	Pancrea
33	chr7:11330600-11330800	Enhancers	Pancreas	Pancrea
34	chr7:11330600-11331000	Enhancers	Liver	Liver
35	chr7:11331000-11334800	Weak transcription	Liver	Liver
36	chr7:11334200-11335000	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr7:11334800-11335000	ZNF genes & repeats	Liver	Liver
38	chr7:11335000-11352800	Weak transcription	Liver	Liver
39	chr7:11336600-11337400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:11337000-11337600	Enhancers	Fetal Kidney	kidney
41	chr7:11337200-11337600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:11339800-11341000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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