Variant report

Variant	nsv970546
Chromosome Location	chr7:84505812-84507413
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr7:84507333-84507541	HepG2	liver:	n/a	chr7:84507445-84507454
2	MAZ	chr7:84506104-84506157	Hela-S3	cervix:	n/a	n/a
3	MYC	chr7:84505895-84506003	MCF-7	breast:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:84440104..84442892-chr7:84507245..84509038,2	K562	blood:
2	chr7:84503629..84506540-chr7:84507302..84509913,4	K562	blood:
3	chr7:84475070..84479016-chr7:84505987..84511663,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GRM3-3	chr7:84505977-84506234	NONHSAT147587

No data

Variant related genes	Relation type
HMGN2P11	TF binding region
ENSG00000235243	chromatin interactions
ENSG00000232605	chromatin interactions

Extended variants
information (count: 68 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13310812	chr7:84505814-84505815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs13311216	chr7:84505815-84505816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527918291	chr7:84505852-84505853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546695347	chr7:84505868-84505869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530063799	chr7:84505879-84505880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571335866	chr7:84505883-84505884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532260468	chr7:84505892-84505893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192321306	chr7:84505911-84505912	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs56324971	chr7:84505918-84505919	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs568881547	chr7:84505923-84505924	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs536147325	chr7:84506003-84506004	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs554883702	chr7:84506039-84506040	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs184163184	chr7:84506059-84506060	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs533713165	chr7:84506117-84506118	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs570004688	chr7:84506130-84506131	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs146750418	chr7:84506140-84506141	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs79884042	chr7:84506152-84506153	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs17131972	chr7:84506170-84506171	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs144158812	chr7:84506173-84506174	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs574815431	chr7:84506196-84506197	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs542141238	chr7:84506248-84506249	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs532442692	chr7:84506271-84506272	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs375290513	chr7:84506282-84506283	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs200098682	chr7:84506283-84506284	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs386715388	chr7:84506284-84506285	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs59935493	chr7:84506285-84506286	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs78222704	chr7:84506288-84506289	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs372669866	chr7:84506294-84506295	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs71524630	chr7:84506296-84506297	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs58746299	chr7:84506297-84506298	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs150921346	chr7:84506327-84506328	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs189669775	chr7:84506353-84506354	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs562330187	chr7:84506354-84506355	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs529723306	chr7:84506359-84506360	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs547900345	chr7:84506386-84506387	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs10265448	chr7:84506397-84506398	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs533846759	chr7:84506415-84506416	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs76113537	chr7:84506422-84506423	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs554386058	chr7:84506436-84506437	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs140714314	chr7:84506447-84506448	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs377721090	chr7:84506449-84506450	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs556650096	chr7:84506544-84506545	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs568516938	chr7:84506556-84506557	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs146592986	chr7:84506558-84506559	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs574718167	chr7:84506600-84506601	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs114157760	chr7:84506613-84506614	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs553893468	chr7:84506633-84506634	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs549300866	chr7:84506680-84506681	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs181316148	chr7:84506720-84506721	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs546521816	chr7:84506729-84506730	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84505800-84507200	Weak transcription	K562	blood
2	chr7:84507200-84507400	Enhancers	K562	blood
3	chr7:84507400-84507600	Flanking Active TSS	K562	blood

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