Variant report

Variant	nsv1022794
Chromosome Location	chr7:4063874-4137968
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	chr7:4088154..4090375-chr7:4090451..4092964,2	MCF-7	breast:
2	chr7:4088154..4090375-chr7:4090451..4092964,2	MCF-7	breast:
3	chr7:4126299..4129076-chr7:4130764..4133447,2	K562	blood:
4	chr7:4091304..4093218-chr7:4095226..4096867,2	K562	blood:
5	chr7:4091304..4093218-chr7:4095226..4096867,2	K562	blood:
6	chr7:4067708..4070701-chr7:4072380..4075049,2	MCF-7	breast:
7	chr7:4046706..4048261-chr7:4069648..4071782,2	MCF-7	breast:
8	chr7:4130773..4135650-chr7:4142053..4144303,4	MCF-7	breast:
9	chr7:4067708..4070701-chr7:4072380..4075049,2	MCF-7	breast:
10	chr7:4133522..4135936-chr7:4136765..4138658,2	K562	blood:
11	chr7:4126299..4129076-chr7:4130764..4133447,2	K562	blood:
12	chr7:4133522..4135936-chr7:4136765..4138658,2	K562	blood:
13	chr7:4074370..4074950-chr7:4518765..4519624,3	MCF-7	breast:
14	chr7:4082285..4084220-chr7:4087738..4090486,2	K562	blood:
15	chr7:4082285..4084220-chr7:4087738..4090486,2	K562	blood:

No data

Extended variants
information (count: 4161 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:4161 , 50 per page) page: 1 2 3 4 5 6 7 ... 84

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80111519	chr7:4063876-4063877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557251904	chr7:4063896-4063897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181948918	chr7:4063936-4063937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546084837	chr7:4063945-4063946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553024225	chr7:4063987-4063988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200031141	chr7:4064016-4064017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs398110983	chr7:4064017-4064018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs17265128	chr7:4064076-4064077	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs145924605	chr7:4064101-4064102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561616668	chr7:4064214-4064215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374999208	chr7:4064223-4064224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530361914	chr7:4064236-4064237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543630657	chr7:4064239-4064240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75209928	chr7:4064244-4064245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75252502	chr7:4064257-4064258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs80304100	chr7:4064258-4064259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559332468	chr7:4064292-4064293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574498057	chr7:4064300-4064301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186597375	chr7:4064320-4064321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200467190	chr7:4064345-4064346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528467691	chr7:4064349-4064350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191961555	chr7:4064359-4064360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73298975	chr7:4064385-4064386	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs181195664	chr7:4064391-4064392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370447736	chr7:4064399-4064400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73673250	chr7:4064411-4064412	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs550516836	chr7:4064436-4064437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541427918	chr7:4064463-4064464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570631474	chr7:4064470-4064471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539746482	chr7:4064480-4064481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs141000502	chr7:4064497-4064498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572915612	chr7:4064519-4064520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535099135	chr7:4064528-4064529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs72564320	chr7:4064530-4064531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11381880	chr7:4064531-4064532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs67075782	chr7:4064532-4064533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372632292	chr7:4064544-4064545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555464674	chr7:4064549-4064550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150209352	chr7:4064556-4064557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544269818	chr7:4064574-4064575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs118094412	chr7:4064577-4064578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576986184	chr7:4064586-4064587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546129263	chr7:4064617-4064618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559617500	chr7:4064620-4064621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528514644	chr7:4064633-4064634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376761821	chr7:4064649-4064650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs58319725	chr7:4064673-4064674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576111747	chr7:4064746-4064747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373533426	chr7:4064748-4064749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189670340	chr7:4064762-4064763	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
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
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:555 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4051200-4065600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:4053800-4065800	Weak transcription	Fetal Brain Male	brain
3	chr7:4054200-4065400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:4059000-4067000	Weak transcription	Right Ventricle	heart
5	chr7:4059000-4091200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:4059800-4065400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:4060200-4065000	Weak transcription	Aorta	Aorta
8	chr7:4061000-4065600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:4061400-4064200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:4061400-4067000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr7:4061400-4073200	Weak transcription	Fetal Lung	lung
12	chr7:4061400-4080800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr7:4061600-4064200	Weak transcription	Spleen	Spleen
14	chr7:4062400-4064800	Weak transcription	Pancreas	Pancrea
15	chr7:4062400-4065400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:4062800-4064000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:4062800-4065600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr7:4063200-4065600	Weak transcription	Fetal Muscle Leg	muscle
19	chr7:4063400-4064800	Weak transcription	Fetal Stomach	stomach
20	chr7:4063400-4065400	Enhancers	HepG2	liver
21	chr7:4064000-4064400	Enhancers	H9 Cell Line	embryonic stem cell
22	chr7:4064000-4064400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:4064000-4065800	Enhancers	Brain Hippocampus Middle	brain
24	chr7:4064200-4064400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:4064200-4064400	Enhancers	Spleen	Spleen
26	chr7:4064200-4065600	Enhancers	Brain Substantia Nigra	brain
27	chr7:4064200-4065800	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr7:4064400-4064800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:4064400-4065000	Weak transcription	Spleen	Spleen
30	chr7:4064400-4065400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:4064400-4065800	Enhancers	Brain Cingulate Gyrus	brain
32	chr7:4064600-4067800	Weak transcription	Fetal Intestine Small	intestine
33	chr7:4064800-4065200	Strong transcription	Fetal Stomach	stomach
34	chr7:4064800-4065600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:4064800-4065800	Enhancers	Brain Angular Gyrus	brain
36	chr7:4064800-4066800	Strong transcription	Pancreas	Pancrea
37	chr7:4065000-4065400	Enhancers	Stomach Smooth Muscle	stomach
38	chr7:4065000-4065600	Enhancers	Aorta	Aorta
39	chr7:4065000-4066000	Enhancers	Rectal Smooth Muscle	rectum
40	chr7:4065000-4066000	Enhancers	Spleen	Spleen
41	chr7:4065000-4066200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:4065200-4065400	Weak transcription	HSMM	muscle
43	chr7:4065200-4065800	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr7:4065200-4066000	Enhancers	H1 Cell Line	embryonic stem cell
45	chr7:4065200-4066000	Enhancers	Colon Smooth Muscle	Colon
46	chr7:4065200-4066200	Genic enhancers	Fetal Stomach	stomach
47	chr7:4065400-4065800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr7:4065400-4066000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr7:4065400-4066000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr7:4065400-4066000	Flanking Active TSS	Stomach Smooth Muscle	stomach

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