Variant report

Variant	nsv967432
Chromosome Location	chr7:80821241-80828983
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:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:80828235..80830977-chr7:80837024..80839340,2	K562	blood:
2	chr7:80820849..80823481-chr7:80826038..80829018,5	K562	blood:
3	chr7:80821320..80824042-chr7:80830231..80831994,2	MCF-7	breast:
4	chr7:80821792..80824304-chr7:80825021..80828118,3	MCF-7	breast:
5	chr7:80792689..80794553-chr7:80826673..80828742,2	K562	blood:
6	chr7:80546955..80550718-chr7:80817331..80823169,5	MCF-7	breast:
7	chr7:80814937..80817852-chr7:80819181..80821334,2	K562	blood:
8	chr7:80820849..80823481-chr7:80826763..80829018,2	K562	blood:
9	chr7:80820849..80823481-chr7:80826038..80829018,5	K562	blood:
10	chr7:80821792..80824304-chr7:80825021..80828118,3	MCF-7	breast:
11	chr7:80820849..80823481-chr7:80826763..80829018,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CD36-4	chr7:80820714-80821325	NONHSAT121757

No data

Variant related genes	Relation type
ENSG00000075223	chromatin interactions
ENSG00000237896	chromatin interactions

Extended variants
information (count: 261 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:261 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190262612	chr7:80821246-80821247	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs540028265	chr7:80821282-80821283	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs542887749	chr7:80821339-80821340	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs373982366	chr7:80821354-80821355	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs147225513	chr7:80821372-80821373	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs536771880	chr7:80821420-80821421	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs573412544	chr7:80821433-80821434	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs78326778	chr7:80821461-80821462	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs115391180	chr7:80821486-80821487	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs542810215	chr7:80821490-80821491	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs571922293	chr7:80821523-80821524	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs140574442	chr7:80821553-80821554	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs112929746	chr7:80821601-80821602	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs115815012	chr7:80821619-80821620	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs11982242	chr7:80821634-80821635	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs549760085	chr7:80821643-80821644	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs182286816	chr7:80821672-80821673	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs538408320	chr7:80821677-80821678	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs558433360	chr7:80821682-80821683	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs369056808	chr7:80821686-80821687	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs186083751	chr7:80821687-80821688	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs571982247	chr7:80821694-80821695	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs533949808	chr7:80821726-80821727	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs553041887	chr7:80821747-80821748	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs115503227	chr7:80821808-80821809	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs144502010	chr7:80821855-80821856	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs573097719	chr7:80821868-80821869	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs371727838	chr7:80821955-80821956	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs151203282	chr7:80821989-80821990	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs562800246	chr7:80821996-80821997	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs190998860	chr7:80822004-80822005	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs182708466	chr7:80822039-80822040	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs565590893	chr7:80822053-80822054	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs527973082	chr7:80822061-80822062	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs547441614	chr7:80822083-80822084	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs375918591	chr7:80822109-80822110	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs560938805	chr7:80822135-80822136	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs555441755	chr7:80822181-80822182	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs529793554	chr7:80822187-80822188	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs369983935	chr7:80822255-80822256	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs116803209	chr7:80822262-80822263	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs73151248	chr7:80822280-80822281	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs114185584	chr7:80822301-80822302	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs565299776	chr7:80822347-80822348	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs551918889	chr7:80822373-80822374	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs565674151	chr7:80822450-80822451	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs534583779	chr7:80822489-80822490	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs565067462	chr7:80822502-80822503	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs556877443	chr7:80822516-80822517	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs575784911	chr7:80822611-80822612	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80819800-80821400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr7:80820800-80824200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:80821000-80821400	Enhancers	A549	lung
4	chr7:80821000-80823800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:80821000-80824400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:80823800-80825200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:80824200-80824400	Enhancers	Left Ventricle	heart
8	chr7:80824200-80824600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:80824400-80825400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:80824600-80827000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:80825400-80825800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:80825400-80826800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:80826800-80827000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:80826800-80827800	Enhancers	K562	blood
15	chr7:80827000-80827200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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