Variant report

Variant	nsv1000079
Chromosome Location	chr1:172146935-172230545
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:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:172140818..172144091-chr1:172144720..172148796,3	MCF-7	breast:
2	chr1:12333996..12334497-chr1:172225767..172226267,2	Hela-S3	cervix:
3	chr1:172182635..172185349-chr1:172186407..172188943,2	K562	blood:
4	chr1:172140042..172142782-chr1:172145211..172147416,2	MCF-7	breast:
5	chr1:172192046..172193599-chr1:172210543..172213398,2	K562	blood:
6	chr1:172192915..172195699-chr1:172196372..172197884,2	K562	blood:
7	chr1:172223524..172225386-chr1:172246377..172249330,2	MCF-7	breast:
8	chr1:172228270..172230641-chr1:172232280..172235057,2	K562	blood:
9	chr1:172192915..172195699-chr1:172196372..172197884,2	K562	blood:
10	chr1:172223489..172225833-chr1:172289738..172293302,4	MCF-7	breast:
11	chr1:172224104..172227089-chr1:172327866..172331463,5	MCF-7	breast:
12	chr1:172223818..172226357-chr1:172229730..172231454,2	MCF-7	breast:
13	chr1:172207485..172209594-chr1:172210521..172213485,2	MCF-7	breast:
14	chr1:172153958..172156265-chr1:172172390..172174263,2	K562	blood:
15	chr1:172146908..172150355-chr1:172151675..172155662,5	MCF-7	breast:
16	chr1:172227773..172230310-chr1:172254726..172257439,2	MCF-7	breast:
17	chr1:172171990..172172595-chr2:69095492..69096217,2	MCF-7	breast:
18	chr1:172223330..172225504-chr1:172229542..172231885,2	MCF-7	breast:
19	chr1:172223432..172226037-chr1:172367106..172368941,2	MCF-7	breast:
20	chr1:172146908..172150355-chr1:172151675..172155662,5	MCF-7	breast:
21	chr1:172221315..172226024-chr1:172325981..172331432,5	MCF-7	breast:
22	chr1:172223818..172226357-chr1:172229730..172231454,2	MCF-7	breast:
23	chr1:172227596..172229761-chr6:26156100..26157990,2	MCF-7	breast:
24	chr1:172182635..172185349-chr1:172186407..172188943,2	K562	blood:
25	chr1:172207485..172209594-chr1:172210521..172213485,2	MCF-7	breast:
26	chr1:172192046..172193599-chr1:172210543..172213398,2	K562	blood:
27	chr1:172230387..172232137-chr1:172254891..172256764,2	K562	blood:
28	chr1:172217494..172219854-chr1:172223387..172225787,2	MCF-7	breast:
29	chr1:172184147..172186042-chr1:172327490..172329598,2	MCF-7	breast:
30	chr1:172147006..172149581-chr1:172326946..172329408,2	MCF-7	breast:
31	chr1:172153958..172156265-chr1:172172390..172174263,2	K562	blood:
32	chr1:172217494..172219854-chr1:172223387..172225787,2	MCF-7	breast:
33	chr1:172223330..172225504-chr1:172229542..172231885,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000168298	chromatin interactions

Extended variants
information (count: 2603 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:2603 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552191	chr1:172146935-172146936	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140554963	chr1:172146973-172146974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531392229	chr1:172147006-172147007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150149501	chr1:172147024-172147025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs979021	chr1:172147027-172147028	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs569443774	chr1:172147046-172147047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188986243	chr1:172147047-172147048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558150833	chr1:172147073-172147074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115535172	chr1:172147109-172147110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372800372	chr1:172147165-172147166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562923263	chr1:172147247-172147248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555693839	chr1:172147271-172147272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573700909	chr1:172147388-172147389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544272804	chr1:172147405-172147406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529183604	chr1:172147450-172147451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs74330390	chr1:172147572-172147573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181406941	chr1:172147613-172147614	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs545217701	chr1:172147637-172147638	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs556401819	chr1:172147700-172147701	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs560187729	chr1:172147734-172147735	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs184769885	chr1:172147776-172147777	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs189232533	chr1:172147874-172147875	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs72721151	chr1:172147913-172147914	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs531352290	chr1:172147928-172147929	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs61807788	chr1:172147974-172147975	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs571398735	chr1:172148018-172148019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544860412	chr1:172148036-172148037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533543103	chr1:172148041-172148042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs180964317	chr1:172148101-172148102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567043409	chr1:172148117-172148118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114299979	chr1:172148144-172148145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555808841	chr1:172148146-172148147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567289544	chr1:172148160-172148161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577951291	chr1:172148161-172148162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556219713	chr1:172148162-172148163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577764285	chr1:172148207-172148208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538448404	chr1:172148334-172148335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74396835	chr1:172148480-172148481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10489298	chr1:172148538-172148539	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs185912225	chr1:172148548-172148549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539911086	chr1:172148563-172148564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191607704	chr1:172148755-172148756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545317257	chr1:172148791-172148792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181286291	chr1:172148875-172148876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576090904	chr1:172148888-172148889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145838305	chr1:172148934-172148935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556632120	chr1:172149031-172149032	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs650603	chr1:172149048-172149049	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs651032	chr1:172149108-172149109	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs547178486	chr1:172149152-172149153	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	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
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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	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
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
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
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Autism	20531469	CNVD
Hereditary coagulopathy	21993689	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:722 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172123400-172149200	Weak transcription	Brain Anterior Caudate	brain
2	chr1:172128400-172149800	Weak transcription	Aorta	Aorta
3	chr1:172132800-172150000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:172138200-172147800	Weak transcription	Brain Angular Gyrus	brain
5	chr1:172138400-172149800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:172138600-172147600	Weak transcription	Small Intestine	intestine
7	chr1:172138600-172147800	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:172138600-172147800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr1:172139600-172148000	Weak transcription	Fetal Stomach	stomach
10	chr1:172142200-172149600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:172143600-172148000	Weak transcription	Colon Smooth Muscle	Colon
12	chr1:172145800-172150000	Weak transcription	Psoas Muscle	Psoas
13	chr1:172146000-172149000	Weak transcription	Fetal Kidney	kidney
14	chr1:172146400-172149600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr1:172146600-172150200	Enhancers	Stomach Mucosa	stomach
16	chr1:172146800-172148400	Enhancers	Placenta Amnion	Placenta Amnion
17	chr1:172146800-172152000	Enhancers	Fetal Intestine Small	intestine
18	chr1:172147200-172149000	Enhancers	Fetal Lung	lung
19	chr1:172147400-172154000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr1:172147600-172148000	Active TSS	GM12878-XiMat	blood
21	chr1:172147600-172149600	Enhancers	Small Intestine	intestine
22	chr1:172147600-172151200	Enhancers	Fetal Intestine Large	intestine
23	chr1:172147800-172148200	Enhancers	Brain Hippocampus Middle	brain
24	chr1:172147800-172148200	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr1:172147800-172148400	Enhancers	Brain Angular Gyrus	brain
26	chr1:172147800-172148400	Enhancers	Ovary	ovary
27	chr1:172148000-172148200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr1:172148000-172148200	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr1:172148000-172148200	Enhancers	Fetal Heart	heart
30	chr1:172148000-172148200	Enhancers	Fetal Stomach	stomach
31	chr1:172148000-172149000	Weak transcription	GM12878-XiMat	blood
32	chr1:172148000-172149400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr1:172148000-172149800	Enhancers	Colon Smooth Muscle	Colon
34	chr1:172148200-172149000	Weak transcription	Fetal Stomach	stomach
35	chr1:172148200-172149200	Weak transcription	Brain Hippocampus Middle	brain
36	chr1:172148200-172149400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr1:172148200-172149400	Weak transcription	Fetal Heart	heart
38	chr1:172148200-172149600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr1:172148200-172149800	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr1:172148200-172149800	Enhancers	Duodenum Mucosa	Duodenum
41	chr1:172148400-172148800	Weak transcription	Ovary	ovary
42	chr1:172148400-172148800	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr1:172148400-172149000	Weak transcription	Brain Angular Gyrus	brain
44	chr1:172148400-172149400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr1:172148800-172149400	Enhancers	Ovary	ovary
46	chr1:172148800-172149800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr1:172148800-172149800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:172148800-172152000	Enhancers	Placenta Amnion	Placenta Amnion
49	chr1:172149000-172149200	Flanking Active TSS	GM12878-XiMat	blood
50	chr1:172149000-172149400	Enhancers	Primary T helper cells fromperipheralblood	blood

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