Variant report

Variant	nsv1024640
Chromosome Location	chr7:11349162-11375206
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:12)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:11349044..11351457-chr7:11357652..11360171,2	MCF-7	breast:
2	chr7:11349044..11351457-chr7:11357652..11360171,2	MCF-7	breast:
3	chr7:11352516..11354876-chr7:11367458..11369669,2	MCF-7	breast:
4	chr7:11346706..11349320-chr7:11350007..11352839,2	K562	blood:
5	chr7:11175308..11177163-chr7:11367863..11369367,2	MCF-7	breast:
6	chr7:11346706..11349320-chr7:11350007..11352839,2	K562	blood:
7	chr7:11370379..11373383-chr7:11374361..11377115,3	MCF-7	breast:
8	chr7:11370379..11373383-chr7:11374361..11377115,3	MCF-7	breast:
9	chr7:11352516..11354876-chr7:11367458..11369669,2	MCF-7	breast:
10	chr7:11310747..11312959-chr7:11363468..11365814,2	MCF-7	breast:
11	chr7:11346706..11349910-chr7:11350007..11353700,4	K562	blood:
12	chr7:11346706..11349910-chr7:11350007..11353700,4	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PHF14-7	chr7:11349080-11349292	NONHSAT119217
2	lnc-PHF14-1	chr7:11361876-11361951	ENSG00000230333.1

No data

Extended variants
information (count: 1228 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1228 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13237362	chr7:11349162-11349163	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568820667	chr7:11349169-11349170	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs544033716	chr7:11349172-11349173	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs62439562	chr7:11349211-11349212	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs56171908	chr7:11349232-11349233	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs13237674	chr7:11349260-11349261	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs190533709	chr7:11349310-11349311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4590330	chr7:11349338-11349339	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs554148696	chr7:11349402-11349403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10260325	chr7:11349410-11349411	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs4454185	chr7:11349438-11349439	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs527350222	chr7:11349443-11349444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149329986	chr7:11349445-11349446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540745837	chr7:11349467-11349468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561081279	chr7:11349473-11349474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144582786	chr7:11349485-11349486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111360410	chr7:11349513-11349514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181754430	chr7:11349521-11349522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139753843	chr7:11349546-11349547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145260898	chr7:11349559-11349560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560177399	chr7:11349600-11349601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532444100	chr7:11349649-11349650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545521775	chr7:11349673-11349674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10245408	chr7:11349705-11349706	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs386710297	chr7:11349733-11349734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112809802	chr7:11349734-11349735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10260826	chr7:11349735-11349736	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs548293766	chr7:11349752-11349753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34312152	chr7:11349760-11349761	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs11765207	chr7:11349771-11349772	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs548011160	chr7:11349772-11349773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186643462	chr7:11349835-11349836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11772071	chr7:11349840-11349841	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs147192425	chr7:11349882-11349883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576012602	chr7:11349890-11349891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534271074	chr7:11349916-11349917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373359222	chr7:11349925-11349926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555435944	chr7:11349958-11349959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572245111	chr7:11350018-11350019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540012274	chr7:11350020-11350021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560300259	chr7:11350026-11350027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111799819	chr7:11350038-11350039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140445265	chr7:11350094-11350095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146404004	chr7:11350154-11350155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567630858	chr7:11350170-11350171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs386710298	chr7:11350172-11350173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567210391	chr7:11350173-11350174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536633374	chr7:11350174-11350175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199805453	chr7:11350176-11350177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531310878	chr7:11350196-11350197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

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
33	chr7:11358600-11360400	Enhancers	HMEC	breast
34	chr7:11359000-11360000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:11359200-11359400	Enhancers	GM12878-XiMat	blood
36	chr7:11359200-11359600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr7:11359200-11359600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:11359200-11359600	Enhancers	NHDF-Ad	bronchial
39	chr7:11359200-11359800	Enhancers	NHEK	skin
40	chr7:11359400-11359800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:11361400-11362600	Strong transcription	Liver	Liver
42	chr7:11362400-11362600	Enhancers	Ovary	ovary
43	chr7:11362600-11383200	Weak transcription	Liver	Liver
44	chr7:11365600-11365800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:11365800-11366000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:11366000-11367400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:11367000-11368600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:11367400-11368200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:11367400-11368200	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr7:11367600-11368200	Enhancers	Fetal Kidney	kidney

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