Variant report

Variant	nsv518625
Chromosome Location	chr7:4214725-4223652
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:4214038..4215783-chr7:4219565..4221660,2	MCF-7	breast:
2	chr7:4222010..4223528-chr7:4226659..4228864,2	MCF-7	breast:
3	chr7:4207982..4210448-chr7:4221501..4223607,2	MCF-7	breast:
4	chr7:4214038..4215783-chr7:4219565..4221660,2	MCF-7	breast:
5	chr7:4216640..4219123-chr7:4223441..4225020,2	MCF-7	breast:
6	chr7:4216640..4219123-chr7:4223441..4225020,2	MCF-7	breast:

Extended variants
information (count: 594 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:594 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10235503	chr7:4214725-4214726	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs546849200	chr7:4214732-4214733	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148468892	chr7:4214733-4214734	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535909522	chr7:4214734-4214735	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555885919	chr7:4214747-4214748	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575852402	chr7:4214757-4214758	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116253246	chr7:4214758-4214759	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558169709	chr7:4214759-4214760	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115507123	chr7:4214760-4214761	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142620699	chr7:4214763-4214764	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147612854	chr7:4214764-4214765	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549648832	chr7:4214785-4214786	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564960622	chr7:4214803-4214804	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs116837758	chr7:4214813-4214814	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs118190362	chr7:4214844-4214845	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs551055150	chr7:4214845-4214846	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs564917102	chr7:4214858-4214859	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs183567721	chr7:4214861-4214862	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs187918329	chr7:4214912-4214913	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs111334462	chr7:4214913-4214914	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs532491809	chr7:4214938-4214939	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs567980351	chr7:4214957-4214958	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs115331486	chr7:4214965-4214966	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs549623535	chr7:4214970-4214971	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs657108	chr7:4214977-4214978	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs547522536	chr7:4214988-4214989	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs113039083	chr7:4215002-4215003	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs118057784	chr7:4215007-4215008	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs192824026	chr7:4215016-4215017	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs533808259	chr7:4215031-4215032	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs559089350	chr7:4215040-4215041	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs573647001	chr7:4215052-4215053	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs114865264	chr7:4215057-4215058	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs562378360	chr7:4215072-4215073	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs112382463	chr7:4215109-4215110	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs545090412	chr7:4215120-4215121	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs564683789	chr7:4215146-4215147	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs534291528	chr7:4215157-4215158	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs115750216	chr7:4215173-4215174	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs560741918	chr7:4215175-4215176	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs585150	chr7:4215206-4215207	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs549567979	chr7:4215216-4215217	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs377715662	chr7:4215226-4215227	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs368718429	chr7:4215249-4215250	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs569459311	chr7:4215254-4215255	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs12154719	chr7:4215255-4215256	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs538279228	chr7:4215260-4215261	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs556615264	chr7:4215271-4215272	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs534196354	chr7:4215274-4215275	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs553777857	chr7:4215278-4215279	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	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
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	18451855	CNVD
Glioblastoma multiforme	21525872	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4169200-4228200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:4185000-4227800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr7:4189200-4217000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:4189600-4228400	Weak transcription	Fetal Brain Female	brain
5	chr7:4191400-4215200	Weak transcription	Aorta	Aorta
6	chr7:4196400-4216000	Weak transcription	Fetal Lung	lung
7	chr7:4196400-4219600	Weak transcription	Fetal Intestine Large	intestine
8	chr7:4202000-4215200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:4207200-4216600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:4207800-4228800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:4211600-4214800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:4212000-4220800	Weak transcription	Fetal Intestine Small	intestine
13	chr7:4212600-4216800	Strong transcription	Pancreas	Pancrea
14	chr7:4213200-4222200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr7:4213600-4221000	Weak transcription	Gastric	stomach
16	chr7:4213800-4217400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:4213800-4219400	Strong transcription	Fetal Stomach	stomach
18	chr7:4214000-4215600	Enhancers	Esophagus	oesophagus
19	chr7:4214200-4216200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr7:4214400-4215400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:4214400-4215400	Strong transcription	Spleen	Spleen
22	chr7:4214800-4215400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:4214800-4215600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:4215200-4215400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr7:4215200-4215600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:4215200-4215600	Strong transcription	Aorta	Aorta
27	chr7:4215200-4215600	Bivalent Enhancer	Fetal Muscle Leg	muscle
28	chr7:4215400-4216000	Enhancers	Fetal Muscle Trunk	muscle
29	chr7:4215400-4217600	Weak transcription	Spleen	Spleen
30	chr7:4215600-4216400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:4215600-4216400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr7:4215600-4216600	Weak transcription	Esophagus	oesophagus
33	chr7:4215600-4222800	Weak transcription	Aorta	Aorta
34	chr7:4215600-4228400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr7:4216000-4217000	Strong transcription	Fetal Lung	lung
36	chr7:4216200-4217200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:4216200-4217200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr7:4216200-4217600	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr7:4216400-4217200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:4216400-4217200	Enhancers	NHEK	skin
41	chr7:4216600-4217200	Enhancers	Esophagus	oesophagus
42	chr7:4216600-4218000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:4216800-4217000	Enhancers	Fetal Muscle Trunk	muscle
44	chr7:4216800-4218200	Weak transcription	Pancreas	Pancrea
45	chr7:4216800-4221800	Weak transcription	Colon Smooth Muscle	Colon
46	chr7:4217000-4217200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr7:4217000-4217200	Enhancers	Fetal Muscle Leg	muscle
48	chr7:4217000-4228400	Weak transcription	Adipose Nuclei	Adipose
49	chr7:4217000-4228400	Weak transcription	Fetal Lung	lung
50	chr7:4217200-4217400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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