Variant report

Variant	esv1792278
Chromosome Location	chr1:175404515-175429913
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:175390294..175392332-chr1:175415075..175416817,2	K562	blood:
2	chr1:175413171..175415246-chr1:175435464..175437711,2	MCF-7	breast:

Extended variants
information (count: 1066 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1066 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534649998	chr1:175404526-175404527	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs554842827	chr1:175404548-175404549	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs189825440	chr1:175404552-175404553	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs527406987	chr1:175404563-175404564	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs537257615	chr1:175404585-175404586	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs149751536	chr1:175404601-175404602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34725056	chr1:175404686-175404687	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs112938501	chr1:175404734-175404735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs71645249	chr1:175404742-175404743	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs369817191	chr1:175404743-175404744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532731538	chr1:175404746-175404747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74642169	chr1:175404756-175404757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201232638	chr1:175404874-175404875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373242696	chr1:175404935-175404936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531071435	chr1:175404941-175404942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377470397	chr1:175404944-175404945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370708251	chr1:175404962-175404963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532279332	chr1:175404963-175404964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552290801	chr1:175404973-175404974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181021989	chr1:175405024-175405025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184321445	chr1:175405027-175405028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569513126	chr1:175405078-175405079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190483525	chr1:175405101-175405102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377297854	chr1:175405117-175405118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536922600	chr1:175405144-175405145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537887856	chr1:175405145-175405146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181739661	chr1:175405206-175405207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576614477	chr1:175405251-175405252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370858966	chr1:175405272-175405273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539587317	chr1:175405297-175405298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553431151	chr1:175405316-175405317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141528988	chr1:175405328-175405329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542217420	chr1:175405403-175405404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34370670	chr1:175405468-175405469	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs575921854	chr1:175405560-175405561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185905942	chr1:175405566-175405567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564709652	chr1:175405572-175405573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533560760	chr1:175405628-175405629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149176457	chr1:175405645-175405646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559405952	chr1:175405648-175405649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534031300	chr1:175405663-175405664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553808533	chr1:175405680-175405681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12131701	chr1:175405695-175405696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548192287	chr1:175405697-175405698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567943434	chr1:175405717-175405718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530749692	chr1:175405778-175405779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550452383	chr1:175405779-175405780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190661561	chr1:175405835-175405836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539614744	chr1:175405856-175405857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368673828	chr1:175405925-175405926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175400000-175413800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:175404400-175404600	ZNF genes & repeats	Fetal Kidney	kidney
3	chr1:175410800-175411600	Enhancers	Fetal Brain Male	brain
4	chr1:175411600-175414800	Weak transcription	Fetal Brain Male	brain
5	chr1:175412400-175413600	Enhancers	GM12878-XiMat	blood
6	chr1:175413600-175417800	Weak transcription	GM12878-XiMat	blood
7	chr1:175413800-175414000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:175414800-175416400	Enhancers	Fetal Brain Male	brain
9	chr1:175416400-175418200	Weak transcription	Fetal Brain Male	brain
10	chr1:175417800-175418400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr1:175417800-175419400	Enhancers	GM12878-XiMat	blood
12	chr1:175418000-175418600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr1:175418200-175418400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:175418200-175418600	Enhancers	Fetal Brain Male	brain
15	chr1:175418400-175418800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr1:175418400-175419000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:175418400-175419000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:175418400-175425200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:175418600-175421000	Weak transcription	Fetal Brain Male	brain
20	chr1:175421000-175422600	Enhancers	Fetal Brain Male	brain
21	chr1:175421200-175421600	Enhancers	Fetal Brain Female	brain
22	chr1:175421600-175422600	Enhancers	Fetal Muscle Leg	muscle
23	chr1:175422000-175422200	Enhancers	Fetal Brain Female	brain
24	chr1:175422600-175428200	Weak transcription	Fetal Brain Male	brain
25	chr1:175423200-175423400	Enhancers	Fetal Heart	heart
26	chr1:175425200-175425400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:175425200-175425400	Enhancers	Pancreas	Pancrea
28	chr1:175425400-175429200	Weak transcription	Pancreas	Pancrea
29	chr1:175428000-175428200	Bivalent/Poised TSS	Fetal Lung	lung
30	chr1:175428000-175428400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:175428000-175428400	Enhancers	Gastric	stomach
32	chr1:175428200-175429400	Enhancers	Fetal Brain Female	brain
33	chr1:175428200-175429800	Enhancers	Brain Cingulate Gyrus	brain
34	chr1:175428200-175432200	Enhancers	Fetal Brain Male	brain
35	chr1:175428400-175429600	Enhancers	Brain Hippocampus Middle	brain
36	chr1:175428600-175429200	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr1:175428600-175429200	Enhancers	Brain Substantia Nigra	brain
38	chr1:175428800-175429000	Enhancers	Brain Anterior Caudate	brain
39	chr1:175428800-175429600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:175428800-175429600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:175429200-175429800	Enhancers	Pancreas	Pancrea
42	chr1:175429400-175431200	Weak transcription	Fetal Brain Female	brain
43	chr1:175429600-175432600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:175429800-175435800	Weak transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links