Variant report

Variant	nsv8041
Chromosome Location	chr7:7228104-7230462
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:7228949..7231828-chr7:7247534..7249931,2	K562	blood:
2	chr7:7220778..7225200-chr7:7225255..7228969,6	MCF-7	breast:
3	chr7:7226701..7229386-chr7:7230510..7232439,2	K562	blood:
4	chr7:7229626..7232056-chr7:7343354..7345777,2	K562	blood:
5	chr7:7227526..7230413-chr7:7241533..7244202,2	K562	blood:
6	chr7:7227526..7229033-chr7:7242702..7244893,2	K562	blood:
7	chr7:7227727..7230614-chr7:7280890..7283240,2	K562	blood:
8	chr7:7220661..7223527-chr7:7229219..7232233,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000106392	chromatin interactions

Extended variants
information (count: 130 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71533354	chr7:7228115-7228116	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191773541	chr7:7228121-7228122	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs565622879	chr7:7228130-7228131	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs539059378	chr7:7228154-7228155	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs560190688	chr7:7228156-7228157	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs77393558	chr7:7228178-7228179	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs569752315	chr7:7228181-7228182	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs59254091	chr7:7228188-7228189	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs202075846	chr7:7228223-7228224	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs79002839	chr7:7228231-7228232	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs62449961	chr7:7228234-7228235	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs539781003	chr7:7228237-7228238	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs184223175	chr7:7228300-7228301	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs573770769	chr7:7228382-7228383	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs35792264	chr7:7228402-7228403	Weak transcription Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs398094793	chr7:7228405-7228406	Weak transcription Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs541281278	chr7:7228474-7228475	Weak transcription Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs148998839	chr7:7228476-7228477	Weak transcription Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs576430027	chr7:7228485-7228486	Weak transcription Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs17164679	chr7:7228510-7228511	Weak transcription Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs545786697	chr7:7228525-7228526	Weak transcription Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs564164133	chr7:7228540-7228541	Weak transcription Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs531663839	chr7:7228552-7228553	Weak transcription Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs543523562	chr7:7228559-7228560	Weak transcription Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs34827973	chr7:7228585-7228586	Weak transcription Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs562267015	chr7:7228626-7228627	Weak transcription Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs55918303	chr7:7228646-7228647	Weak transcription Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs548015321	chr7:7228649-7228650	Weak transcription Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs566231627	chr7:7228667-7228668	Weak transcription Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs34922694	chr7:7228687-7228688	Weak transcription Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs188418249	chr7:7228727-7228728	Weak transcription Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs551373768	chr7:7228800-7228801	Weak transcription Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs78148085	chr7:7228804-7228805	Weak transcription Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs567285273	chr7:7228811-7228812	Weak transcription Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs56066111	chr7:7228823-7228824	Weak transcription Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs11767455	chr7:7228824-7228825	Weak transcription Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs141614928	chr7:7228870-7228871	Weak transcription Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs151044462	chr7:7228963-7228964	Weak transcription Active TSS Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs372898571	chr7:7228982-7228983	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553176096	chr7:7228999-7229000	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142335136	chr7:7229041-7229042	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs77547581	chr7:7229044-7229045	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533152223	chr7:7229050-7229051	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146635997	chr7:7229091-7229092	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576032573	chr7:7229112-7229113	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs76603002	chr7:7229114-7229115	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs71844155	chr7:7229137-7229138	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200578640	chr7:7229138-7229139	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185737040	chr7:7229154-7229155	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs75365404	chr7:7229171-7229172	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	18172304	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	21525872	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	17363583	CNVD
Lung adenocarcinoma	21935476	CNVD
Ovarian cancer	21781307	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD

Chromatin state (count:213 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7223200-7234000	Weak transcription	Small Intestine	intestine
2	chr7:7223400-7240800	Weak transcription	Esophagus	oesophagus
3	chr7:7223400-7241400	Weak transcription	Pancreas	Pancrea
4	chr7:7223800-7229600	Weak transcription	NHLF	lung
5	chr7:7223800-7229800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr7:7223800-7230000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr7:7223800-7234800	Weak transcription	Right Ventricle	heart
8	chr7:7223800-7240800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr7:7223800-7241000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:7223800-7279600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:7224000-7229600	Weak transcription	Fetal Lung	lung
12	chr7:7224000-7230000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr7:7224000-7230400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr7:7224200-7229400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:7224400-7229600	Weak transcription	A549	lung
16	chr7:7224400-7230000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr7:7224600-7232800	Weak transcription	HUVEC	blood vessel
18	chr7:7225000-7231000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:7225000-7243200	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr7:7225200-7229200	Weak transcription	NHDF-Ad	bronchial
21	chr7:7225200-7229600	Weak transcription	NH-A	brain
22	chr7:7225200-7233000	Weak transcription	Thymus	Thymus
23	chr7:7225200-7233200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr7:7225200-7241000	Weak transcription	HMEC	breast
25	chr7:7225200-7241200	Weak transcription	Hela-S3	cervix
26	chr7:7225400-7228600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr7:7225400-7229600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:7225400-7229600	Weak transcription	Adipose Nuclei	Adipose
29	chr7:7225400-7229600	Weak transcription	Liver	Liver
30	chr7:7225400-7229800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr7:7225400-7229800	Weak transcription	Left Ventricle	heart
32	chr7:7225400-7230000	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr7:7225400-7230800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr7:7225400-7233600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr7:7225600-7229400	Weak transcription	Fetal Heart	heart
36	chr7:7225600-7229600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:7225600-7229600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr7:7225600-7232000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:7225800-7229600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr7:7225800-7233000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr7:7225800-7233000	Weak transcription	Psoas Muscle	Psoas
42	chr7:7226000-7229400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr7:7226000-7229600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:7226000-7229600	Weak transcription	Fetal Intestine Large	intestine
45	chr7:7226000-7229600	Weak transcription	K562	blood
46	chr7:7226000-7240800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr7:7226200-7229600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:7226200-7230600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr7:7226200-7235200	Weak transcription	Brain Substantia Nigra	brain
50	chr7:7226400-7229600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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