Variant report

Variant	nsv1007667
Chromosome Location	chr1:174438778-174556953
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:35)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:174522506..174524469-chr1:174526591..174528326,2	K562	blood:
2	chr1:174537054..174539369-chr1:174541231..174544062,3	K562	blood:
3	chr1:174447279..174449920-chr1:174453391..174456617,3	K562	blood:
4	chr1:174524894..174527021-chr1:174528165..174529898,2	K562	blood:
5	chr1:174544631..174547612-chr1:174552869..174554719,2	MCF-7	breast:
6	chr1:174458959..174461243-chr1:174465302..174467364,3	MCF-7	breast:
7	chr1:174485495..174487649-chr1:174503565..174506456,2	K562	blood:
8	chr1:174418631..174420346-chr1:174546629..174548508,2	K562	blood:
9	chr1:174522506..174524469-chr1:174526591..174528326,2	K562	blood:
10	chr1:174460451..174463330-chr1:174468900..174471148,2	K562	blood:
11	chr1:174478227..174480621-chr1:174484949..174486891,2	MCF-7	breast:
12	chr1:174518114..174520798-chr1:174523440..174525540,2	MCF-7	breast:
13	chr1:174460451..174463330-chr1:174468900..174471148,2	K562	blood:
14	chr1:174468172..174471596-chr1:174473522..174476530,3	K562	blood:
15	chr1:174468172..174471596-chr1:174473522..174476530,3	K562	blood:
16	chr1:174532659..174534724-chr1:174536541..174539409,2	K562	blood:
17	chr1:174447279..174449920-chr1:174453391..174456617,3	K562	blood:
18	chr1:174485495..174487649-chr1:174503565..174506456,2	K562	blood:
19	chr1:174537431..174539369-chr1:174541884..174544062,2	K562	blood:
20	chr1:174537431..174539369-chr1:174541884..174544062,2	K562	blood:
21	chr1:174524894..174527021-chr1:174528165..174529898,2	K562	blood:
22	chr1:174527785..174529980-chr1:174530540..174532967,2	MCF-7	breast:
23	chr1:174532659..174534724-chr1:174536541..174539409,2	K562	blood:
24	chr1:174537054..174539369-chr1:174541231..174544062,3	K562	blood:
25	chr1:174521191..174523406-chr1:174525648..174527204,2	MCF-7	breast:
26	chr1:174544631..174547612-chr1:174552869..174554719,2	MCF-7	breast:
27	chr1:174501105..174504016-chr1:174516125..174518683,2	K562	blood:
28	chr1:174445047..174445587-chr2:186343137..186343750,2	MCF-7	breast:
29	chr1:174518114..174520798-chr1:174523440..174525540,2	MCF-7	breast:
30	chr1:174536183..174536703-chr12:77045544..77046044,2	MCF-7	breast:
31	chr1:174478227..174480621-chr1:174484949..174486891,2	MCF-7	breast:
32	chr1:174521191..174523406-chr1:174525648..174527204,2	MCF-7	breast:
33	chr1:174458959..174461243-chr1:174465302..174467364,3	MCF-7	breast:
34	chr1:174501105..174504016-chr1:174516125..174518683,2	K562	blood:
35	chr1:174527785..174529980-chr1:174530540..174532967,2	MCF-7	breast:

No data

Extended variants
information (count: 4308 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:4308 , 50 per page) page: 1 2 3 4 5 6 7 ... 87

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185140854	chr1:174438790-174438791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577230390	chr1:174438793-174438794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545227454	chr1:174438903-174438904	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546072466	chr1:174438909-174438910	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565577990	chr1:174438913-174438914	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141625762	chr1:174438924-174438925	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12071171	chr1:174438929-174438930	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs150917972	chr1:174438935-174438936	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531281661	chr1:174438953-174438954	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190088323	chr1:174439030-174439031	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181742465	chr1:174439049-174439050	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139413051	chr1:174439061-174439062	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544913179	chr1:174439089-174439090	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570668153	chr1:174439093-174439094	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375118321	chr1:174439144-174439145	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546073504	chr1:174439216-174439217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144465118	chr1:174439231-174439232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146128061	chr1:174439234-174439235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140115665	chr1:174439253-174439254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575562051	chr1:174439279-174439280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568161550	chr1:174439324-174439325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143726197	chr1:174439349-174439350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530095733	chr1:174439374-174439375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529557758	chr1:174439418-174439419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557121374	chr1:174439456-174439457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547093130	chr1:174439458-174439459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77744821	chr1:174439465-174439466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539790764	chr1:174439562-174439563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553283444	chr1:174439606-174439607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185603488	chr1:174439703-174439704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566818855	chr1:174439734-174439735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561909199	chr1:174439769-174439770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78236679	chr1:174439797-174439798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544337023	chr1:174439829-174439830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564376665	chr1:174439836-174439837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533349004	chr1:174439837-174439838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546919370	chr1:174439841-174439842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560400269	chr1:174439844-174439845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529527935	chr1:174439854-174439855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548191905	chr1:174439859-174439860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190309127	chr1:174439862-174439863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145995375	chr1:174439910-174439911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537160404	chr1:174439944-174439945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116550726	chr1:174439952-174439953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145756635	chr1:174439967-174439968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148941119	chr1:174440026-174440027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12058377	chr1:174440109-174440110	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs180804188	chr1:174440166-174440167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537781892	chr1:174440175-174440176	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140550042	chr1:174440176-174440177	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Autism	19404257	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:241 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174381200-174438800	Weak transcription	Primary B cells from cord blood	blood
2	chr1:174415400-174444800	Weak transcription	Aorta	Aorta
3	chr1:174417800-174440800	Weak transcription	GM12878-XiMat	blood
4	chr1:174418000-174439000	Weak transcription	Left Ventricle	heart
5	chr1:174418000-174440000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr1:174430800-174445800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:174437400-174439400	Enhancers	Fetal Heart	heart
8	chr1:174438800-174439200	Strong transcription	Primary B cells from cord blood	blood
9	chr1:174439000-174439200	Enhancers	Left Ventricle	heart
10	chr1:174439000-174460200	Weak transcription	Primary T cells from cord blood	blood
11	chr1:174439200-174439600	Weak transcription	Left Ventricle	heart
12	chr1:174439200-174441600	Weak transcription	Primary B cells from cord blood	blood
13	chr1:174439400-174449800	Weak transcription	Fetal Heart	heart
14	chr1:174439600-174439800	Enhancers	Left Ventricle	heart
15	chr1:174439800-174445800	Weak transcription	Left Ventricle	heart
16	chr1:174440000-174441400	Strong transcription	Primary B cells from peripheral blood	blood
17	chr1:174440000-174443000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr1:174440000-174448800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr1:174440800-174442000	Strong transcription	GM12878-XiMat	blood
20	chr1:174441200-174441600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:174441400-174459200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr1:174441600-174442200	Strong transcription	Primary B cells from cord blood	blood
23	chr1:174442000-174452000	Weak transcription	GM12878-XiMat	blood
24	chr1:174442200-174491800	Weak transcription	Primary B cells from cord blood	blood
25	chr1:174445800-174446000	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr1:174445800-174446200	Enhancers	Left Ventricle	heart
27	chr1:174448800-174449000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr1:174449600-174450000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr1:174449800-174450000	Enhancers	Fetal Heart	heart
30	chr1:174452000-174452600	Enhancers	GM12878-XiMat	blood
31	chr1:174454000-174455600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:174455600-174457600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:174457000-174457600	Enhancers	Fetal Heart	heart
34	chr1:174457400-174473600	Weak transcription	Aorta	Aorta
35	chr1:174457600-174460800	Weak transcription	GM12878-XiMat	blood
36	chr1:174457600-174475400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:174459000-174459200	Weak transcription	Fetal Intestine Large	intestine
38	chr1:174459200-174459400	ZNF genes & repeats	Fetal Intestine Large	intestine
39	chr1:174459200-174459800	Strong transcription	Primary B cells from peripheral blood	blood
40	chr1:174459200-174459800	Enhancers	Dnd41	blood
41	chr1:174459400-174470000	Weak transcription	Fetal Intestine Large	intestine
42	chr1:174459800-174461800	Weak transcription	Dnd41	blood
43	chr1:174459800-174469200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr1:174460000-174460200	ZNF genes & repeats	Fetal Stomach	stomach
45	chr1:174460200-174461200	Strong transcription	Primary T cells from cord blood	blood
46	chr1:174460200-174461600	Weak transcription	Fetal Stomach	stomach
47	chr1:174460800-174461200	Strong transcription	GM12878-XiMat	blood
48	chr1:174461200-174474200	Weak transcription	GM12878-XiMat	blood
49	chr1:174461200-174476800	Weak transcription	Primary T cells from cord blood	blood
50	chr1:174463000-174466600	Weak transcription	Brain Cingulate Gyrus	brain

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