Variant report

Variant	nsv1014340
Chromosome Location	chr1:161822791-161852384
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:161839566..161842330-chr1:161842859..161844409,2	K562	blood:
2	chr1:161820600..161823167-chr1:161894156..161896088,2	K562	blood:
3	chr1:161832356..161834052-chr1:161839680..161841205,2	MCF-7	breast:
4	chr1:161834761..161835393-chr1:162006439..162007058,2	MCF-7	breast:
5	chr1:161842879..161844626-chr1:161848201..161850655,3	MCF-7	breast:
6	chr1:161832356..161834052-chr1:161839680..161841205,2	MCF-7	breast:
7	chr1:161826549..161828276-chr1:161829766..161831936,2	K562	blood:
8	chr1:161852144..161853945-chr1:161868652..161871755,3	K562	blood:
9	chr1:161842879..161844626-chr1:161848201..161850655,3	MCF-7	breast:
10	chr1:161834350..161835016-chr1:161874785..161875694,3	MCF-7	breast:
11	chr1:161839566..161842441-chr1:161842909..161844787,2	K562	blood:
12	chr1:161839566..161842441-chr1:161842909..161844787,2	K562	blood:
13	chr1:161817528..161820186-chr1:161824155..161825796,2	MCF-7	breast:
14	chr1:161850891..161854466-chr1:161861324..161863852,3	K562	blood:
15	chr1:161850891..161853176-chr1:161861324..161863697,2	K562	blood:
16	chr1:161803188..161805868-chr1:161828143..161830220,2	MCF-7	breast:
17	chr1:161826549..161828276-chr1:161829766..161831936,2	K562	blood:
18	chr1:161852144..161853945-chr1:161868652..161871034,2	K562	blood:
19	chr1:161839566..161842330-chr1:161842859..161844409,2	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ATF6	hsa-miR-335-5p	chr1:161835699-161835720

Extended variants
information (count: 961 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:961 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545331110	chr1:161822894-161822895	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565551319	chr1:161822958-161822959	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2340717	chr1:161822959-161822960	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs202088315	chr1:161822985-161822986	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2257107	chr1:161823011-161823012	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs367722298	chr1:161823044-161823045	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561285880	chr1:161823065-161823066	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1058408	chr1:161823071-161823072	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529018288	chr1:161823084-161823085	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs201415050	chr1:161823100-161823101	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374129058	chr1:161823103-161823104	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7547538	chr1:161823121-161823122	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372094399	chr1:161823126-161823127	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368265110	chr1:161823147-161823148	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559424079	chr1:161823162-161823163	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147409184	chr1:161823179-161823180	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528070570	chr1:161823195-161823196	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551744811	chr1:161823196-161823197	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs3215134	chr1:161823197-161823198	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs397717177	chr1:161823199-161823200	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201065701	chr1:161823200-161823201	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs202224387	chr1:161823202-161823203	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571506977	chr1:161823288-161823289	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190746460	chr1:161823317-161823318	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181672844	chr1:161823327-161823328	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567323204	chr1:161823351-161823352	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536364939	chr1:161823388-161823389	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187640868	chr1:161823424-161823425	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12042546	chr1:161823492-161823493	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs191978195	chr1:161823587-161823588	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559027534	chr1:161823600-161823601	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs931778	chr1:161823618-161823619	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs183899582	chr1:161823632-161823633	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528620525	chr1:161823700-161823701	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555158693	chr1:161823732-161823733	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114079562	chr1:161823753-161823754	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542771870	chr1:161823754-161823755	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12044770	chr1:161823821-161823822	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs186711138	chr1:161823879-161823880	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544995938	chr1:161823901-161823902	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564677961	chr1:161823932-161823933	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530857810	chr1:161823941-161823942	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550569581	chr1:161823952-161823953	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567490856	chr1:161823959-161823960	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529820560	chr1:161823976-161823977	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546736375	chr1:161824059-161824060	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs114776066	chr1:161824080-161824081	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538707065	chr1:161824104-161824105	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189606802	chr1:161824136-161824137	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116740318	chr1:161824196-161824197	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	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
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
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Idiopathic thrombocytopenic purpura	17827395	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Cancer	17440070	CNVD

Chromatin state (count:448 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161773400-161854400	Weak transcription	Small Intestine	intestine
2	chr1:161780400-161824400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:161780600-161823400	Weak transcription	A549	lung
4	chr1:161780600-161836600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:161780800-161823000	Weak transcription	HSMMtube	muscle
6	chr1:161780800-161825800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:161780800-161834000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:161781000-161823000	Weak transcription	Fetal Kidney	kidney
9	chr1:161791400-161823000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr1:161791600-161823000	Weak transcription	Fetal Lung	lung
11	chr1:161791800-161823000	Weak transcription	Fetal Brain Female	brain
12	chr1:161791800-161823600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:161791800-161842000	Weak transcription	Brain Angular Gyrus	brain
14	chr1:161792000-161823200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr1:161792200-161838000	Weak transcription	Fetal Brain Male	brain
16	chr1:161795200-161860200	Weak transcription	Lung	lung
17	chr1:161795600-161823000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr1:161795800-161827600	Weak transcription	Gastric	stomach
19	chr1:161795800-161859000	Weak transcription	Pancreas	Pancrea
20	chr1:161802200-161823200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:161802400-161825000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:161805800-161838200	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr1:161805800-161846200	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr1:161806200-161825600	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr1:161808400-161823200	Weak transcription	Brain Substantia Nigra	brain
26	chr1:161808400-161863200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr1:161808600-161840200	Weak transcription	Right Ventricle	heart
28	chr1:161808800-161858800	Weak transcription	Spleen	Spleen
29	chr1:161809200-161827000	Strong transcription	Primary B cells from peripheral blood	blood
30	chr1:161809400-161838000	Weak transcription	HMEC	breast
31	chr1:161810200-161824200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr1:161810200-161829000	Weak transcription	Stomach Mucosa	stomach
33	chr1:161810600-161835800	Weak transcription	Colonic Mucosa	Colon
34	chr1:161811400-161838400	Strong transcription	Primary B cells from cord blood	blood
35	chr1:161811800-161838200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr1:161813000-161834200	Weak transcription	Esophagus	oesophagus
37	chr1:161813200-161823000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr1:161813200-161823000	Weak transcription	Psoas Muscle	Psoas
39	chr1:161813400-161822800	Weak transcription	Osteobl	bone
40	chr1:161813400-161823200	Weak transcription	NH-A	brain
41	chr1:161814200-161825600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr1:161814400-161823000	Weak transcription	HUVEC	blood vessel
43	chr1:161815200-161823400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr1:161815200-161834600	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr1:161815400-161823600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:161816000-161825200	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr1:161816000-161825400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:161816000-161826400	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr1:161816000-161826400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:161816000-161826400	Strong transcription	Liver	Liver

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