Variant report

Variant	nsv1006621
Chromosome Location	chr1:191483040-191513228
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:12)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:191507997..191509921-chr1:191510626..191513228,2	MCF-7	breast:
2	chr1:191476619..191478729-chr1:191489630..191491476,2	K562	blood:
3	chr1:191488913..191492156-chr1:191496270..191498298,3	MCF-7	breast:
4	chr1:191488913..191492156-chr1:191496270..191498298,3	MCF-7	breast:
5	chr1:191502483..191504253-chr17:56707440..56709288,2	MCF-7	breast:
6	chr1:191507997..191509921-chr1:191510626..191513228,2	MCF-7	breast:
7	chr1:76262387..76264305-chr1:191498781..191500281,2	K562	blood:
8	chr1:191507022..191509468-chr1:191509511..191511062,2	K562	blood:
9	chr1:191507022..191509468-chr1:191509511..191511062,2	K562	blood:
10	chr1:191506403..191509431-chr1:191514929..191518614,3	K562	blood:
11	chr1:191501593..191503372-chr1:191505633..191507558,2	K562	blood:
12	chr1:191501593..191503372-chr1:191505633..191507558,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM5C-13	chr1:191487184-191487423	predAs_chen_BG220711_1
2	lnc-RGS18-10	chr1:191494155-191494355	expReg_chr1_21196_+

No data

Variant related genes	Relation type
ENSG00000057468	chromatin interactions
ENSG00000212195	chromatin interactions

Extended variants
information (count: 363 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:363 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549003440	chr1:191487184-191487185	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs534463892	chr1:191487204-191487205	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs554169410	chr1:191487208-191487209	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs532443808	chr1:191487234-191487235	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs596752	chr1:191487282-191487283	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs547405672	chr1:191487306-191487307	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs539635716	chr1:191487397-191487398	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs559297513	chr1:191487414-191487415	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs187410364	chr1:191488723-191488724	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs377265880	chr1:191488738-191488739	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs148399763	chr1:191488746-191488747	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs142534217	chr1:191488753-191488754	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs112256217	chr1:191488778-191488779	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs147739242	chr1:191488821-191488822	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs538721774	chr1:191488856-191488857	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs141054043	chr1:191488882-191488883	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs16833544	chr1:191488911-191488912	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs373146238	chr1:191488989-191488990	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs116257378	chr1:191488997-191488998	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs569368449	chr1:191489016-191489017	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs537919391	chr1:191489021-191489022	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs144791092	chr1:191489023-191489024	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs147936461	chr1:191489083-191489084	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs625452	chr1:191489093-191489094	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs527766630	chr1:191489095-191489096	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs541537276	chr1:191489153-191489154	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs577972125	chr1:191489200-191489201	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs1338031	chr1:191489307-191489308	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs549804713	chr1:191489322-191489323	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs140475540	chr1:191489347-191489348	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs529573497	chr1:191489351-191489352	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs1338030	chr1:191489465-191489466	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs35958241	chr1:191489525-191489526	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs555254724	chr1:191489529-191489530	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs566281282	chr1:191489536-191489537	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs576615321	chr1:191489571-191489572	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs150432407	chr1:191489591-191489592	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs375577152	chr1:191489641-191489642	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs551458227	chr1:191489755-191489756	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs571112678	chr1:191489804-191489805	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs538613177	chr1:191489829-191489830	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs537032715	chr1:191489834-191489835	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs557042447	chr1:191489911-191489912	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs573960936	chr1:191489994-191489995	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs536583875	chr1:191490125-191490126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552857863	chr1:191490127-191490128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572997656	chr1:191490135-191490136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541125986	chr1:191490159-191490160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564597062	chr1:191490211-191490212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs193112815	chr1:191490214-191490215	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Glioblastoma multiforme	21510904	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Parathyroid adenoma	20824076	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:191488600-191489600	Active TSS	A549	lung
2	chr1:191489600-191490000	Flanking Active TSS	A549	lung
3	chr1:191490000-191492000	Enhancers	A549	lung
4	chr1:191496800-191498200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr1:191497400-191497800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:191497400-191497800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:191497400-191497800	Enhancers	Colon Smooth Muscle	Colon
8	chr1:191497400-191497800	Enhancers	Rectal Smooth Muscle	rectum
9	chr1:191500000-191500600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr1:191501200-191501800	Enhancers	Fetal Heart	heart
11	chr1:191502400-191502800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:191502400-191502800	Active TSS	Gastric	stomach
13	chr1:191503000-191503400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr1:191503000-191503600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:191503000-191503800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr1:191503200-191503600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr1:191503200-191503600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr1:191503200-191503800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr1:191503600-191503800	Enhancers	Fetal Intestine Large	intestine
20	chr1:191504000-191505000	Weak transcription	Fetal Intestine Large	intestine
21	chr1:191505000-191505800	Enhancers	Fetal Intestine Large	intestine

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