Variant report

Variant	nsv1024704
Chromosome Location	chr7:3736254-3831859
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:3800945..3803910-chr7:3805454..3807274,2	K562	blood:
2	chr7:3824486..3827082-chr7:3833919..3835661,2	MCF-7	breast:
3	chr7:3521823..3522640-chr7:3807742..3808264,2	MCF-7	breast:
4	chr7:3757251..3758935-chr7:3765168..3767703,2	MCF-7	breast:
5	chr7:3450055..3452486-chr7:3794915..3797670,2	MCF-7	breast:
6	chr7:3801628..3804260-chr7:3804675..3806733,2	MCF-7	breast:
7	chr7:3800945..3803910-chr7:3805454..3807274,2	K562	blood:
8	chr7:3793998..3797473-chr7:3798195..3801316,4	MCF-7	breast:
9	chr7:3828320..3832262-chr7:3833106..3836337,3	K562	blood:
10	chr7:3750817..3752407-chr7:3752998..3754553,2	K562	blood:
11	chr7:3793998..3797473-chr7:3798195..3801316,4	MCF-7	breast:
12	chr7:3801628..3804260-chr7:3804675..3806733,2	MCF-7	breast:
13	chr7:3757251..3758935-chr7:3765168..3767703,2	MCF-7	breast:
14	chr7:3727225..3728784-chr7:3739798..3742268,2	K562	blood:
15	chr7:3750817..3752407-chr7:3752998..3754553,2	K562	blood:

No data

Extended variants
information (count: 5422 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:5422 , 50 per page) page: 1 2 3 4 5 6 7 ... 109

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7792769	chr7:3736254-3736255	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569566357	chr7:3736256-3736257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537840601	chr7:3736259-3736260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs28693824	chr7:3736277-3736278	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs371789090	chr7:3736278-3736279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566450618	chr7:3736293-3736294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549488794	chr7:3736318-3736319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs16870124	chr7:3736332-3736333	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs115461683	chr7:3736360-3736361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112363405	chr7:3736385-3736386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371158919	chr7:3736404-3736405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567552079	chr7:3736426-3736427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552244869	chr7:3736446-3736447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570962673	chr7:3736449-3736450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562632130	chr7:3736463-3736464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534789734	chr7:3736506-3736507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7776999	chr7:3736512-3736513	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs544631651	chr7:3736515-3736516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190512943	chr7:3736528-3736529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527346840	chr7:3736538-3736539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549227528	chr7:3736543-3736544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75423247	chr7:3736553-3736554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74683785	chr7:3736554-3736555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35602782	chr7:3736565-3736566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567396029	chr7:3736568-3736569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1529659	chr7:3736587-3736588	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs116585175	chr7:3736607-3736608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10271198	chr7:3736608-3736609	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs73672149	chr7:3736609-3736610	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs148328346	chr7:3736651-3736652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368170107	chr7:3736652-3736653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79222806	chr7:3736655-3736656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557823826	chr7:3736658-3736659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571640224	chr7:3736679-3736680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10230747	chr7:3736694-3736695	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs10230759	chr7:3736713-3736714	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs564897120	chr7:3736727-3736728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115440527	chr7:3736731-3736732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185742725	chr7:3736733-3736734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1529658	chr7:3736751-3736752	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs556327313	chr7:3736768-3736769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576216573	chr7:3736780-3736781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575830889	chr7:3736781-3736782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs35343786	chr7:3736788-3736789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1529656	chr7:3736789-3736790	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs541061324	chr7:3736792-3736793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560954628	chr7:3736802-3736803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529859536	chr7:3736812-3736813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190502048	chr7:3736831-3736832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569440952	chr7:3736847-3736848	Weak transcription Enhancers	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	chr7:3722200-3738000	Weak transcription	Pancreas	Pancrea
2	chr7:3731400-3736800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:3736000-3762200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:3736000-3764400	Weak transcription	Aorta	Aorta
5	chr7:3736200-3738600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:3736600-3738200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr7:3736800-3737000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr7:3736800-3737200	Enhancers	H9 Cell Line	embryonic stem cell
9	chr7:3736800-3737600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr7:3736800-3738400	Enhancers	Primary T cells from cord blood	blood
11	chr7:3737000-3737800	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr7:3737000-3737800	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr7:3737200-3737800	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr7:3738000-3738200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr7:3738000-3738400	Enhancers	Pancreas	Pancrea
16	chr7:3738400-3739200	Weak transcription	Primary T cells from cord blood	blood
17	chr7:3738400-3740200	Weak transcription	Pancreas	Pancrea
18	chr7:3738600-3738800	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr7:3739200-3739800	Enhancers	Primary T cells from cord blood	blood
20	chr7:3742800-3743800	Enhancers	Brain Germinal Matrix	brain
21	chr7:3746800-3748000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:3746800-3750400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr7:3746800-3762200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr7:3749000-3749200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:3749000-3749200	ZNF genes & repeats	Fetal Lung	lung
26	chr7:3749200-3749400	Weak transcription	Fetal Lung	lung
27	chr7:3749200-3752400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:3749400-3749800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:3749400-3750400	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr7:3749800-3750000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr7:3749800-3750200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:3749800-3750400	Enhancers	Adipose Nuclei	Adipose
33	chr7:3749800-3750400	Enhancers	Fetal Intestine Small	intestine
34	chr7:3749800-3750400	Enhancers	Stomach Mucosa	stomach
35	chr7:3750000-3753600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:3750200-3750400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:3750200-3750400	Enhancers	Pancreas	Pancrea
38	chr7:3750200-3750400	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr7:3750200-3751600	Enhancers	Primary T cells from cord blood	blood
40	chr7:3750400-3751000	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr7:3750400-3751600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:3750400-3751600	Weak transcription	Stomach Mucosa	stomach
43	chr7:3750400-3752400	Weak transcription	Pancreas	Pancrea
44	chr7:3750600-3750800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:3750800-3751000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:3750800-3751400	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr7:3751000-3751600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr7:3751000-3752600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:3751200-3751400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
50	chr7:3751600-3751800	Bivalent Enhancer	Stomach Mucosa	stomach

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