Variant report

Variant	nsv981436
Chromosome Location	chr7:20042251-20043458
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr7:20042993-20043398	H1-hESC	embryonic stem cell:	n/a	chr7:20043211-20043232
2	USF1	chr7:20043122-20043354	H1-hESC	embryonic stem cell:	n/a	chr7:20043211-20043232

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:20042353-20042403	PrEC	prostate:	n/a
2	chr7:20042353-20042403	NHBE	bronchial:	n/a
3	chr7:20042353-20042403	Hela-S3	cervix:	n/a
4	chr7:20042353-20042403	GM06990	blood:	n/a
5	chr7:20042353-20042403	HCPEpiC	choroid plexus:	n/a
6	chr7:20042353-20042403	IMR90	lung:	fetal
7	chr7:20042353-20042403	HRE	kidney:	n/a
8	chr7:20042353-20042403	NB4	blood:	n/a
9	chr7:20042353-20042403	SK-N-MC	brain:	n/a
10	chr7:20042353-20042403	PANC-1	pancreas:	n/a
11	chr7:20042353-20042403	HUVEC	blood vessel:	n/a
12	chr7:20042353-20042403	GM12891	blood:	n/a
13	chr7:20042353-20042403	SK-N-SH	brain:	n/a
14	chr7:20042353-20042403	MCF-7	breast:	n/a
15	chr7:20042353-20042403	HRCEpiC	kidney:	n/a
16	chr7:20042353-20042403	Hepatocyte	liver:	n/a
17	chr7:20042353-20042403	AG10803	skin:	n/a
18	chr7:20042353-20042403	HEK293	kidney:	embryo
19	chr7:20042353-20042403	AG09309	skin:	n/a
20	chr7:20042353-20042403	AoSMC	blood vessel:	n/a
21	chr7:20042353-20042403	CMK	blood:	n/a
22	chr7:20042353-20042403	SAEC	small airway:	n/a
23	chr7:20042353-20042403	ovcar-3	ovarian:	n/a
24	chr7:20042353-20042403	BJ	skin:	n/a
25	chr7:20042353-20042403	HL-60	blood:	n/a
26	chr7:20042353-20042403	NHDF-neo	bronchial:	n/a
27	chr7:20042353-20042403	ProgFib	skin:	n/a
28	chr7:20042353-20042403	Caco-2	colon:	n/a
29	chr7:20042353-20042403	NH-A	brain:	n/a
30	chr7:20042353-20042403	A549	lung:	n/a
31	chr7:20042353-20042403	U87	brain:	n/a
32	chr7:20042353-20042403	Jurkat	blood:	n/a
33	chr7:20042353-20042403	AG09319	gingival:	n/a
34	chr7:20042353-20042403	SK-N-SH_RA	brain:	n/a
35	chr7:20042353-20042403	HNPCEpiC	eye:	n/a
36	chr7:20042353-20042403	K562	blood:	n/a
37	chr7:20042353-20042403	T-47D	breast:	n/a
38	chr7:20042353-20042403	RPTEC	kidney:	n/a
39	chr7:20042353-20042403	AG04450	lung:	fetal
40	chr7:20042353-20042403	PFSK-1	brain:	n/a
41	chr7:20042353-20042403	AG04449	skin:	fetal
42	chr7:20042353-20042403	HAEpiC	amniotic membrane:	n/a
43	chr7:20042353-20042403	BE2_C	brain:	n/a
44	chr7:20042353-20042403	HMEC	breast:	n/a
45	chr7:20042353-20042403	HCF	heart:	n/a
46	chr7:20042353-20042403	LNCaP	prostate:	n/a
47	chr7:20042353-20042403	HRPEpiC	eye:	n/a
48	chr7:20042353-20042403	MCF10A-Er-Src	breast:	n/a
49	chr7:20042353-20042403	GM19239	blood:	n/a
50	chr7:20042353-20042403	HPAEpiC	pulmonary alveolar:	n/a

No data

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MACC1-1	chr7:20042343-20042467	ENSG00000243004.1
2	lnc-MACC1-1	chr7:20042343-20042545	ENSG00000243004.1

No data

Variant related genes	Relation type
ENSG00000243004	TF binding region
RPL21P75	TF binding region
ENSG00000243004	CpG island
RPL21P75	CpG island

Extended variants
information (count: 56 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556237808	chr7:20042346-20042347	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs149225715	chr7:20042357-20042358	Weak transcription	CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs545139213	chr7:20042378-20042379	Weak transcription	CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs4721855	chr7:20042388-20042389	Weak transcription	CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs559939542	chr7:20042392-20042393	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs527513006	chr7:20042399-20042400	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs542401678	chr7:20042439-20042440	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs374156652	chr7:20042461-20042462	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs4721856	chr7:20042474-20042475	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs201810871	chr7:20042544-20042545	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs531495891	chr7:20042568-20042569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549750568	chr7:20042572-20042573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564683602	chr7:20042582-20042583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546561794	chr7:20042615-20042616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565665480	chr7:20042664-20042665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547147663	chr7:20042699-20042700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534595922	chr7:20042710-20042711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192895806	chr7:20042763-20042764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534429191	chr7:20042766-20042767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549588702	chr7:20042775-20042776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567963276	chr7:20042799-20042800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557577745	chr7:20042818-20042819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142095453	chr7:20042830-20042831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577931702	chr7:20042831-20042832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539003764	chr7:20042839-20042840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553884282	chr7:20042840-20042841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572201715	chr7:20042871-20042872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34222141	chr7:20042879-20042880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142557436	chr7:20042909-20042910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71020614	chr7:20042913-20042914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199700609	chr7:20042914-20042915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs55992898	chr7:20042916-20042917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs56161832	chr7:20042919-20042920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199526161	chr7:20042920-20042921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369417865	chr7:20042925-20042926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560699833	chr7:20042942-20042943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs398003903	chr7:20042949-20042950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200734551	chr7:20042952-20042953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144684438	chr7:20042953-20042954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138621362	chr7:20042957-20042958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564916987	chr7:20042959-20042960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185397208	chr7:20042987-20042988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577773120	chr7:20043004-20043005	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs552730898	chr7:20043027-20043028	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs114129092	chr7:20043110-20043111	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs529768565	chr7:20043114-20043115	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs549608945	chr7:20043222-20043223	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs567827267	chr7:20043227-20043228	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs536806428	chr7:20043228-20043229	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs38158	chr7:20043258-20043259	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:79)

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
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:20010200-20052000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:20024400-20055400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:20030400-20044000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr7:20032200-20043200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr7:20034600-20043400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:20040600-20058800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:20041400-20043200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr7:20041800-20047000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:20043000-20043400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr7:20043200-20043400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr7:20043200-20047000	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr7:20043200-20048800	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:20043400-20045200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:20043400-20045800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr7:20043400-20050400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links