Variant report

Variant	nsv1031610
Chromosome Location	chr7:3744536-3838844
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:3793998..3797473-chr7:3798195..3801316,4	MCF-7	breast:
2	chr7:3521823..3522640-chr7:3807742..3808264,2	MCF-7	breast:
3	chr7:3828320..3832262-chr7:3833106..3836337,3	K562	blood:
4	chr7:3450055..3452486-chr7:3794915..3797670,2	MCF-7	breast:
5	chr7:3800945..3803910-chr7:3805454..3807274,2	K562	blood:
6	chr7:3757251..3758935-chr7:3765168..3767703,2	MCF-7	breast:
7	chr7:3757251..3758935-chr7:3765168..3767703,2	MCF-7	breast:
8	chr7:3750817..3752407-chr7:3752998..3754553,2	K562	blood:
9	chr7:3801628..3804260-chr7:3804675..3806733,2	MCF-7	breast:
10	chr7:3793998..3797473-chr7:3798195..3801316,4	MCF-7	breast:
11	chr7:3801628..3804260-chr7:3804675..3806733,2	MCF-7	breast:
12	chr7:3828320..3832262-chr7:3833106..3836337,3	K562	blood:
13	chr7:3750817..3752407-chr7:3752998..3754553,2	K562	blood:
14	chr7:3824486..3827082-chr7:3833919..3835661,2	MCF-7	breast:
15	chr7:3800945..3803910-chr7:3805454..3807274,2	K562	blood:
16	chr7:3824486..3827082-chr7:3833919..3835661,2	MCF-7	breast:

No data

Extended variants
information (count: 5378 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:5378 , 50 per page) page: 1 2 3 4 5 6 7 ... 108

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577480144	chr7:3744556-3744557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540541072	chr7:3744561-3744562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184668545	chr7:3744571-3744572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573574346	chr7:3744584-3744585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114626277	chr7:3744593-3744594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189993829	chr7:3744601-3744602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112192053	chr7:3744602-3744603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562521723	chr7:3744603-3744604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531443621	chr7:3744606-3744607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181335400	chr7:3744648-3744649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574765300	chr7:3744657-3744658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112982868	chr7:3744658-3744659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547258134	chr7:3744661-3744662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139532146	chr7:3744702-3744703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183675672	chr7:3744742-3744743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188286900	chr7:3744747-3744748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181793529	chr7:3744788-3744789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187632984	chr7:3744795-3744796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537965243	chr7:3744808-3744809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557500681	chr7:3744815-3744816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536486251	chr7:3744833-3744834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73302261	chr7:3744837-3744838	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs373991446	chr7:3744864-3744865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533780611	chr7:3744877-3744878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114074388	chr7:3744881-3744882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111908312	chr7:3744888-3744889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182083296	chr7:3744916-3744917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371273724	chr7:3744950-3744951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376513552	chr7:3744967-3744968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376134669	chr7:3744973-3744974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73302264	chr7:3744984-3744985	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs186289296	chr7:3745019-3745020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs56406539	chr7:3745055-3745056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544553853	chr7:3745058-3745059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376069630	chr7:3745118-3745119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4039583	chr7:3745119-3745120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575951086	chr7:3745123-3745124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565008730	chr7:3745130-3745131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533560199	chr7:3745147-3745148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552378082	chr7:3745158-3745159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540514920	chr7:3745164-3745165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116673238	chr7:3745208-3745209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529566354	chr7:3745226-3745227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145481622	chr7:3745234-3745235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369791088	chr7:3745246-3745247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10224481	chr7:3745260-3745261	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs531623353	chr7:3745267-3745268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76169357	chr7:3745268-3745269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111297248	chr7:3745288-3745289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563807110	chr7:3745293-3745294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	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
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Nasopharyngeal cancer	20548289	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:535 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3736000-3762200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:3736000-3764400	Weak transcription	Aorta	Aorta
3	chr7:3746800-3748000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:3746800-3750400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr7:3746800-3762200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr7:3749000-3749200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:3749000-3749200	ZNF genes & repeats	Fetal Lung	lung
8	chr7:3749200-3749400	Weak transcription	Fetal Lung	lung
9	chr7:3749200-3752400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:3749400-3749800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:3749400-3750400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr7:3749800-3750000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:3749800-3750200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:3749800-3750400	Enhancers	Adipose Nuclei	Adipose
15	chr7:3749800-3750400	Enhancers	Fetal Intestine Small	intestine
16	chr7:3749800-3750400	Enhancers	Stomach Mucosa	stomach
17	chr7:3750000-3753600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:3750200-3750400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:3750200-3750400	Enhancers	Pancreas	Pancrea
20	chr7:3750200-3750400	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr7:3750200-3751600	Enhancers	Primary T cells from cord blood	blood
22	chr7:3750400-3751000	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr7:3750400-3751600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:3750400-3751600	Weak transcription	Stomach Mucosa	stomach
25	chr7:3750400-3752400	Weak transcription	Pancreas	Pancrea
26	chr7:3750600-3750800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:3750800-3751000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:3750800-3751400	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr7:3751000-3751600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr7:3751000-3752600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:3751200-3751400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
32	chr7:3751600-3751800	Bivalent Enhancer	Stomach Mucosa	stomach
33	chr7:3751600-3752200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:3751800-3752200	Enhancers	Stomach Mucosa	stomach
35	chr7:3752200-3752400	Bivalent Enhancer	Stomach Mucosa	stomach
36	chr7:3752200-3752800	Enhancers	Gastric	stomach
37	chr7:3752200-3753600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:3752400-3752800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:3752400-3752800	Enhancers	Lung	lung
40	chr7:3752400-3752800	Enhancers	Pancreas	Pancrea
41	chr7:3752400-3752800	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr7:3752400-3753000	Enhancers	Stomach Mucosa	stomach
43	chr7:3752600-3752800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr7:3752600-3755400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:3752800-3755000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr7:3752800-3755000	Weak transcription	Lung	lung
47	chr7:3752800-3762200	Weak transcription	Pancreas	Pancrea
48	chr7:3753600-3753800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr7:3753600-3753800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr7:3753800-3757800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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