Variant report

Variant	nsv1019938
Chromosome Location	chr7:11310473-11358235
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:20)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:11328573..11331475-chr7:11331531..11334464,2	K562	blood:
2	chr7:11325170..11327885-chr7:11339729..11342510,2	K562	blood:
3	chr7:11310747..11312959-chr7:11363468..11365814,2	MCF-7	breast:
4	chr7:11327180..11330030-chr7:11331702..11333462,2	K562	blood:
5	chr7:11337762..11340036-chr7:11346341..11348579,2	K562	blood:
6	chr7:11346706..11349910-chr7:11350007..11353700,4	K562	blood:
7	chr7:11325170..11327885-chr7:11339729..11342510,2	K562	blood:
8	chr7:11352516..11354876-chr7:11367458..11369669,2	MCF-7	breast:
9	chr7:11317077..11318618-chr7:11320125..11322658,2	K562	blood:
10	chr17:56332401..56332956-chr7:11310992..11311492,2	MCF-7	breast:
11	chr7:11337762..11340036-chr7:11346341..11348579,2	K562	blood:
12	chr7:11346706..11349910-chr7:11350007..11353700,4	K562	blood:
13	chr7:11346706..11349320-chr7:11350007..11352839,2	K562	blood:
14	chr7:11327180..11330030-chr7:11331702..11333462,2	K562	blood:
15	chr7:11317077..11318618-chr7:11320125..11322658,2	K562	blood:
16	chr7:11349044..11351457-chr7:11357652..11360171,2	MCF-7	breast:
17	chr7:11349044..11351457-chr7:11357652..11360171,2	MCF-7	breast:
18	chr7:11346706..11349320-chr7:11350007..11352839,2	K562	blood:
19	chr7:11328573..11331475-chr7:11331531..11334464,2	K562	blood:
20	chr7:10977336..10979714-chr7:11321113..11323195,2	K562	blood:

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

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

No data

Variant related genes	Relation type
ENSG00000189043	chromatin interactions

Extended variants
information (count: 1784 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1784 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565058482	chr7:11310475-11310476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369939631	chr7:11310498-11310499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371973178	chr7:11310512-11310513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191438083	chr7:11310514-11310515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530639972	chr7:11310546-11310547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148546135	chr7:11310557-11310558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538647432	chr7:11310563-11310564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544474346	chr7:11310606-11310607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561042272	chr7:11310632-11310633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs739893	chr7:11310640-11310641	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs184690075	chr7:11310654-11310655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534596392	chr7:11310711-11310712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538010882	chr7:11310731-11310732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9654918	chr7:11310737-11310738	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs574717745	chr7:11310745-11310746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540553404	chr7:11310757-11310758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554460539	chr7:11310774-11310775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577135784	chr7:11310810-11310811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371116717	chr7:11310820-11310821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144280413	chr7:11310826-11310827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146061828	chr7:11310842-11310843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531834733	chr7:11310847-11310848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542390971	chr7:11310854-11310855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561043551	chr7:11310912-11310913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529949820	chr7:11310928-11310929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546546690	chr7:11310939-11310940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566783643	chr7:11310967-11310968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531967736	chr7:11310987-11310988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77546190	chr7:11311030-11311031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs17164191	chr7:11311039-11311040	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs537523427	chr7:11311075-11311076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139998351	chr7:11311098-11311099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560491668	chr7:11311105-11311106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552851429	chr7:11311156-11311157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532602535	chr7:11311193-11311194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143505148	chr7:11311296-11311297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569410084	chr7:11311308-11311309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534425841	chr7:11311374-11311375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191915320	chr7:11311376-11311377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116790444	chr7:11311399-11311400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546219363	chr7:11311408-11311409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34679793	chr7:11311557-11311558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs398003662	chr7:11311560-11311561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370587110	chr7:11311561-11311562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs57614407	chr7:11311570-11311571	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs576535711	chr7:11311620-11311621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568460863	chr7:11311694-11311695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116792106	chr7:11311718-11311719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79106203	chr7:11311729-11311730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184393251	chr7:11311734-11311735	Weak 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:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11309800-11317200	Weak transcription	Liver	Liver
2	chr7:11312000-11312800	Enhancers	K562	blood
3	chr7:11315600-11316400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr7:11315600-11316400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr7:11315800-11316200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:11315800-11316200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr7:11315800-11316400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr7:11315800-11316600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr7:11315800-11316800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:11316000-11316400	Enhancers	H9 Cell Line	embryonic stem cell
11	chr7:11316000-11316600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:11316200-11316400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr7:11316400-11316800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:11316400-11318000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr7:11316600-11318200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:11316800-11318000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:11318000-11318400	Enhancers	H1 Cell Line	embryonic stem cell
18	chr7:11318000-11318400	Enhancers	H9 Cell Line	embryonic stem cell
19	chr7:11318000-11319000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:11318200-11318600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr7:11318200-11319200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr7:11321200-11321400	Enhancers	K562	blood
23	chr7:11321400-11322000	Flanking Active TSS	K562	blood
24	chr7:11322000-11322400	Enhancers	K562	blood
25	chr7:11327400-11328800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:11327400-11328800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:11328000-11328600	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr7:11328000-11328800	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr7:11328400-11328600	Enhancers	Pancreas	Pancrea
30	chr7:11329400-11329600	Enhancers	Pancreas	Pancrea
31	chr7:11330600-11330800	Enhancers	Pancreas	Pancrea
32	chr7:11330600-11331000	Enhancers	Liver	Liver
33	chr7:11331000-11334800	Weak transcription	Liver	Liver
34	chr7:11334200-11335000	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr7:11334800-11335000	ZNF genes & repeats	Liver	Liver
36	chr7:11335000-11352800	Weak transcription	Liver	Liver
37	chr7:11336600-11337400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:11337000-11337600	Enhancers	Fetal Kidney	kidney
39	chr7:11337200-11337600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:11339800-11341000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:11351800-11352400	Enhancers	Colon Smooth Muscle	Colon
42	chr7:11352800-11353600	Strong transcription	Liver	Liver
43	chr7:11353000-11353200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:11353000-11353600	Enhancers	Adipose Nuclei	Adipose
45	chr7:11353400-11354400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:11353600-11361400	Weak transcription	Liver	Liver
47	chr7:11353600-11367600	Weak transcription	Adipose Nuclei	Adipose
48	chr7:11354400-11355800	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr7:11354400-11357200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:11354800-11355600	Enhancers	HUES64 Cell Line	embryonic stem cell

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