Variant report

Variant	nsv470177
Chromosome Location	chr7:21801125-21817048
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:21546916..21547496-chr7:21806696..21807577,2	MCF-7	breast:
2	chr7:21608001..21608689-chr7:21806668..21807749,3	MCF-7	breast:
3	chr7:21816268..21818392-chr7:21823306..21824872,2	MCF-7	breast:
4	chr7:21301128..21302010-chr7:21806605..21807182,2	MCF-7	breast:
5	chr7:21806980..21807646-chr7:22040800..22042221,5	MCF-7	breast:
6	chr7:21607583..21608493-chr7:21807066..21807743,2	MCF-7	breast:
7	chr7:21295299..21296544-chr7:21806799..21807582,4	MCF-7	breast:
8	chr7:21295823..21296612-chr7:21806734..21807628,5	MCF-7	breast:
9	chr12:127731149..127731903-chr7:21806557..21807120,2	HCT-116	colon:
10	chr7:21813998..21816432-chr7:21818719..21821037,2	K562	blood:
11	chr7:21785213..21786764-chr7:21816105..21818005,2	K562	blood:
12	chr7:21547043..21547991-chr7:21806813..21807569,3	MCF-7	breast:
13	chr7:21295985..21296573-chr7:21806634..21807524,2	K562	blood:
14	chr7:21543389..21543978-chr7:21806643..21807254,2	MCF-7	breast:
15	chr7:21798369..21801038-chr7:21803838..21806561,2	MCF-7	breast:
16	chr7:21301191..21301804-chr7:21807075..21807617,2	MCF-7	breast:

No data

Extended variants
information (count: 847 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:847 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7779283	chr7:21801125-21801126	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs554975187	chr7:21801126-21801127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545736565	chr7:21801172-21801173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144598236	chr7:21801188-21801189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139353855	chr7:21801200-21801201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574000200	chr7:21801240-21801241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548488449	chr7:21801241-21801242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568392981	chr7:21801250-21801251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536510955	chr7:21801253-21801254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187765926	chr7:21801321-21801322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550835718	chr7:21801323-21801324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10950871	chr7:21801326-21801327	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs10950872	chr7:21801344-21801345	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs192681221	chr7:21801356-21801357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566771334	chr7:21801380-21801381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs6949611	chr7:21801381-21801382	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs6967362	chr7:21801389-21801390	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs144098840	chr7:21801420-21801421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553459100	chr7:21801426-21801427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564623137	chr7:21801453-21801454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369307023	chr7:21801485-21801486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575570598	chr7:21801513-21801514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371178856	chr7:21801514-21801515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557931680	chr7:21801539-21801540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10807807	chr7:21801548-21801549	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs545596048	chr7:21801568-21801569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559432695	chr7:21801602-21801603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545586746	chr7:21801634-21801635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs117664672	chr7:21801635-21801636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184812957	chr7:21801647-21801648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187648736	chr7:21801650-21801651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550750267	chr7:21801652-21801653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564150986	chr7:21801698-21801699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs386711126	chr7:21801701-21801702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10950873	chr7:21801703-21801704	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs546753124	chr7:21801713-21801714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141304671	chr7:21801727-21801728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575919813	chr7:21801728-21801729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566998956	chr7:21801734-21801735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142314539	chr7:21801768-21801769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543662385	chr7:21801770-21801771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs151254990	chr7:21801794-21801795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192396293	chr7:21801799-21801800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538169064	chr7:21801804-21801805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184398819	chr7:21801832-21801833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs578098973	chr7:21801849-21801850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560975940	chr7:21801858-21801859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552721848	chr7:21801861-21801862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552790583	chr7:21801875-21801876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10256021	chr7:21801878-21801879	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:78)

Disease	PMID	Source
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
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Lung cancer	16773561	CNVD
Schizophrenia	19546859	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21789400-21804800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:21795000-21804200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:21795000-21805200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:21796600-21810000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr7:21797600-21804400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr7:21797600-21805000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr7:21798600-21803400	Weak transcription	Fetal Heart	heart
8	chr7:21801000-21801600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr7:21801600-21804000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr7:21803400-21808000	Enhancers	Fetal Heart	heart
11	chr7:21803600-21804200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:21804000-21805800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr7:21804000-21808000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr7:21804200-21804400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:21804200-21804400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:21804200-21805200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:21804200-21805200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:21804200-21805600	Enhancers	H1 Cell Line	embryonic stem cell
19	chr7:21804200-21805600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:21804400-21805000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:21804400-21805200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr7:21804400-21805400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:21804600-21805600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr7:21804800-21805000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:21804800-21805200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr7:21804800-21805600	Enhancers	H9 Cell Line	embryonic stem cell
27	chr7:21804800-21805800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr7:21804800-21806600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:21805000-21805400	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr7:21805000-21805600	Bivalent Enhancer	Fetal Brain Male	brain
31	chr7:21805000-21805600	Bivalent Enhancer	Left Ventricle	heart
32	chr7:21805000-21806200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:21805000-21806200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:21805200-21805400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr7:21805200-21805600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:21805200-21805600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr7:21805200-21805600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:21805200-21806000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:21805200-21810000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:21805400-21805600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:21805400-21805600	Enhancers	Brain Cingulate Gyrus	brain
42	chr7:21805400-21810200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr7:21805400-21810600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr7:21805600-21806800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr7:21805600-21806800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr7:21805600-21809600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr7:21805600-21813800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr7:21805600-21813800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr7:21805800-21806800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr7:21805800-21810800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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