Variant report

Variant	nsv970438
Chromosome Location	chr7:4190961-4194705
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:4182760..4185775-chr7:4188001..4190966,3	K562	blood:
2	chr7:4188225..4190399-chr7:4192595..4194321,2	MCF-7	breast:
3	chr7:4182013..4185775-chr7:4188001..4190966,4	K562	blood:

Extended variants
information (count: 173 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:173 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145772050	chr7:4190963-4190964	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs572521550	chr7:4190972-4190973	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs541630642	chr7:4190980-4190981	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs679630	chr7:4190994-4190995	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs574883003	chr7:4190998-4190999	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs679609	chr7:4191003-4191004	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs679546	chr7:4191050-4191051	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs532395216	chr7:4191086-4191087	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs59731582	chr7:4191152-4191153	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs528231890	chr7:4191170-4191171	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs548367180	chr7:4191193-4191194	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs190304968	chr7:4191198-4191199	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs548288004	chr7:4191214-4191215	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566606802	chr7:4191240-4191241	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530619257	chr7:4191262-4191263	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550729863	chr7:4191275-4191276	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533890978	chr7:4191285-4191286	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148521804	chr7:4191289-4191290	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539463212	chr7:4191328-4191329	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563825887	chr7:4191353-4191354	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs117948827	chr7:4191356-4191357	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534861020	chr7:4191393-4191394	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555144383	chr7:4191404-4191405	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574976296	chr7:4191428-4191429	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537122985	chr7:4191467-4191468	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531189535	chr7:4191492-4191493	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs151033358	chr7:4191518-4191519	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141473344	chr7:4191556-4191557	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs666562	chr7:4191583-4191584	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs77409333	chr7:4191587-4191588	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542975954	chr7:4191611-4191612	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573089456	chr7:4191678-4191679	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541799210	chr7:4191683-4191684	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs145149796	chr7:4191689-4191690	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555199618	chr7:4191712-4191713	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369170492	chr7:4191732-4191733	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73035583	chr7:4191735-4191736	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182456537	chr7:4191744-4191745	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532918216	chr7:4191780-4191781	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570431735	chr7:4191788-4191789	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546623742	chr7:4191789-4191790	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568088323	chr7:4191793-4191794	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535320811	chr7:4191805-4191806	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs10951446	chr7:4191811-4191812	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs568609031	chr7:4191816-4191817	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs537261262	chr7:4191827-4191828	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs556993031	chr7:4191844-4191845	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs10951447	chr7:4191871-4191872	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs539589632	chr7:4191880-4191881	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs369964794	chr7:4191883-4191884	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4154600-4191600	Weak transcription	Gastric	stomach
2	chr7:4169200-4228200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:4184800-4192400	Weak transcription	Right Ventricle	heart
4	chr7:4184800-4198800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr7:4185000-4192000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:4185000-4227800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr7:4185200-4191400	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:4185400-4191600	Weak transcription	Fetal Muscle Leg	muscle
9	chr7:4185400-4196800	Weak transcription	Adipose Nuclei	Adipose
10	chr7:4185400-4196800	Weak transcription	Fetal Brain Male	brain
11	chr7:4185400-4198600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr7:4185600-4191800	Strong transcription	Fetal Stomach	stomach
13	chr7:4185600-4198800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:4186200-4195400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr7:4187400-4191800	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr7:4188200-4198600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:4188200-4211200	Weak transcription	Brain Germinal Matrix	brain
18	chr7:4189200-4217000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:4189600-4228400	Weak transcription	Fetal Brain Female	brain
20	chr7:4189800-4193400	Enhancers	Pancreas	Pancrea
21	chr7:4189800-4195600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:4189800-4195600	Weak transcription	Fetal Intestine Small	intestine
23	chr7:4189800-4198400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:4190200-4191400	Weak transcription	Fetal Lung	lung
25	chr7:4190200-4197800	Weak transcription	Spleen	Spleen
26	chr7:4190600-4191000	Weak transcription	HepG2	liver
27	chr7:4190600-4191400	Strong transcription	Aorta	Aorta
28	chr7:4190800-4191200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
29	chr7:4191000-4191200	Enhancers	Esophagus	oesophagus
30	chr7:4191000-4192600	Enhancers	HepG2	liver
31	chr7:4191200-4192000	Enhancers	Rectal Smooth Muscle	rectum
32	chr7:4191200-4192000	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr7:4191400-4191600	Enhancers	Colon Smooth Muscle	Colon
34	chr7:4191400-4192000	Enhancers	Fetal Lung	lung
35	chr7:4191400-4192200	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr7:4191400-4215200	Weak transcription	Aorta	Aorta
37	chr7:4191600-4191800	Enhancers	Duodenum Mucosa	Duodenum
38	chr7:4191600-4192000	Weak transcription	Colon Smooth Muscle	Colon
39	chr7:4191600-4192000	Enhancers	Fetal Muscle Leg	muscle
40	chr7:4191600-4192800	Enhancers	Gastric	stomach
41	chr7:4191800-4192000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr7:4191800-4198000	Weak transcription	Fetal Stomach	stomach
43	chr7:4192000-4192200	Enhancers	Colon Smooth Muscle	Colon
44	chr7:4192000-4193800	Weak transcription	Fetal Lung	lung
45	chr7:4192000-4197400	Weak transcription	Fetal Muscle Leg	muscle
46	chr7:4192000-4198000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr7:4192200-4200600	Weak transcription	Colon Smooth Muscle	Colon
48	chr7:4192600-4195200	Weak transcription	HepG2	liver
49	chr7:4192800-4195600	Weak transcription	Duodenum Mucosa	Duodenum
50	chr7:4192800-4195800	Weak transcription	Gastric	stomach

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