Variant report

Variant	nsv514412
Chromosome Location	chr7:26137299-26145461
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:26133229..26135657-chr7:26144514..26146950,2	MCF-7	breast:
2	chr7:26145169..26147608-chr7:26224836..26227830,4	K562	blood:
3	chr7:26135136..26138294-chr7:26144321..26146577,5	MCF-7	breast:
4	chr7:26135136..26138294-chr7:26144321..26146577,5	MCF-7	breast:
5	chr22:49929400..49929920-chr7:26140865..26141585,2	NB4	blood:
6	chr7:26127176..26132084-chr7:26132908..26137367,5	K562	blood:
7	chr7:26140097..26142166-chr7:26224742..26227594,2	K562	blood:
8	chr7:26136960..26140512-chr7:26226454..26229545,3	K562	blood:
9	chr12:53436002..53436502-chr7:26140425..26141348,2	NB4	blood:
10	chr7:26135924..26137855-chr7:26144469..26146230,4	MCF-7	breast:
11	chr7:26135924..26137855-chr7:26144469..26146230,4	MCF-7	breast:
12	chr7:26138953..26140614-chr7:26142057..26143746,2	K562	blood:
13	chr7:26138953..26140614-chr7:26142057..26143746,2	K562	blood:

No data

Extended variants
information (count: 248 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:248 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182628221	chr7:26137345-26137346	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs536149436	chr7:26137402-26137403	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs555787125	chr7:26137479-26137480	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs575586657	chr7:26137529-26137530	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs566436104	chr7:26137532-26137533	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs553736970	chr7:26137535-26137536	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs146177627	chr7:26137546-26137547	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs577836320	chr7:26137550-26137551	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs111574231	chr7:26137611-26137612	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs560504494	chr7:26137620-26137621	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs149488965	chr7:26137637-26137638	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs572668124	chr7:26137670-26137671	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs143913504	chr7:26137723-26137724	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs542945258	chr7:26137764-26137765	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs113836653	chr7:26137820-26137821	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs368296783	chr7:26137829-26137830	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs186263038	chr7:26137840-26137841	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs191847780	chr7:26137850-26137851	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs78498231	chr7:26137911-26137912	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs78111098	chr7:26137912-26137913	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs113403901	chr7:26137921-26137922	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs114440286	chr7:26138012-26138013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547613510	chr7:26138134-26138135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372907273	chr7:26138180-26138181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183905727	chr7:26138201-26138202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs148772629	chr7:26138227-26138228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549624507	chr7:26138237-26138238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569327936	chr7:26138281-26138282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188898141	chr7:26138297-26138298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558107492	chr7:26138318-26138319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192386107	chr7:26138351-26138352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182112665	chr7:26138382-26138383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375754780	chr7:26138387-26138388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557511437	chr7:26138394-26138395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574100941	chr7:26138423-26138424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543312261	chr7:26138452-26138453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556859349	chr7:26138461-26138462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565403322	chr7:26138481-26138482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142398542	chr7:26138539-26138540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368890604	chr7:26138589-26138590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545455957	chr7:26138675-26138676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112346553	chr7:26138691-26138692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113323280	chr7:26138754-26138755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541119796	chr7:26138912-26138913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs74818396	chr7:26138986-26138987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs371165903	chr7:26139078-26139079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs36117897	chr7:26139087-26139088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529816208	chr7:26139132-26139133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573945627	chr7:26139185-26139186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569641744	chr7:26139204-26139205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
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
Melanoma	18172304	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
Endometrioid adenocarcinoma	16974079	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Breast cancer	18852474	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:301 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26119200-26141000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:26131800-26137400	Weak transcription	A549	lung
3	chr7:26131800-26140400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:26132000-26137400	Weak transcription	Hela-S3	cervix
5	chr7:26132200-26137400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:26132200-26137400	Weak transcription	NHEK	skin
7	chr7:26132600-26137400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:26135600-26139200	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr7:26135800-26137600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr7:26135800-26138200	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr7:26135800-26138800	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr7:26136200-26137600	Enhancers	Primary B cells from cord blood	blood
13	chr7:26136200-26138400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr7:26136200-26138600	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr7:26136200-26139200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr7:26136200-26140600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:26136200-26141000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr7:26136400-26138200	Enhancers	Primary B cells from peripheral blood	blood
19	chr7:26136400-26138200	Enhancers	GM12878-XiMat	blood
20	chr7:26136400-26138400	Enhancers	Placenta	Placenta
21	chr7:26136400-26140400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr7:26136400-26142400	Enhancers	Primary T cells fromperipheralblood	blood
23	chr7:26136600-26138200	Enhancers	Fetal Thymus	thymus
24	chr7:26136800-26137800	Enhancers	Dnd41	blood
25	chr7:26136800-26138000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:26136800-26138000	Enhancers	Thymus	Thymus
27	chr7:26136800-26138200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr7:26136800-26139600	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr7:26137000-26138200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr7:26137000-26140400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr7:26137200-26137600	Enhancers	HepG2	liver
32	chr7:26137200-26137800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr7:26137200-26137800	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr7:26137200-26137800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr7:26137200-26138000	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr7:26137200-26138000	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr7:26137200-26138000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr7:26137400-26137600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr7:26137400-26137600	Enhancers	Fetal Intestine Large	intestine
40	chr7:26137400-26137800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:26137400-26137800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:26137400-26138000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:26137400-26138000	Enhancers	A549	lung
44	chr7:26137400-26138000	Enhancers	Hela-S3	cervix
45	chr7:26137400-26138000	Enhancers	NHEK	skin
46	chr7:26137400-26138400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr7:26137400-26138400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr7:26137600-26137800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr7:26137600-26137800	Enhancers	Primary hematopoietic stem cells	blood
50	chr7:26137600-26138000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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