Variant report

Variant	esv3446937
Chromosome Location	chr1:173340081-173348710
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 338 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:338 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554191060	chr1:173340084-173340085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12723393	chr1:173340087-173340088	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs185092159	chr1:173340124-173340125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11804254	chr1:173340215-173340216	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs140370924	chr1:173340326-173340327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190734176	chr1:173340351-173340352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6425219	chr1:173340416-173340417	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs181920730	chr1:173340425-173340426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115688924	chr1:173340458-173340459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144214267	chr1:173340478-173340479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186634849	chr1:173340535-173340536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147760227	chr1:173340547-173340548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191743528	chr1:173340549-173340550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373831222	chr1:173340563-173340564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568142911	chr1:173340564-173340565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552098545	chr1:173340571-173340572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550507386	chr1:173340589-173340590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2422346	chr1:173340656-173340657	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs116424879	chr1:173340721-173340722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2422347	chr1:173340741-173340742	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs2422348	chr1:173340780-173340781	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs536754650	chr1:173340802-173340803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2422349	chr1:173340809-173340810	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs149850494	chr1:173340813-173340814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183571866	chr1:173340902-173340903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541874991	chr1:173340907-173340908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4382762	chr1:173340972-173340973	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs575687815	chr1:173340982-173340983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546153521	chr1:173340990-173340991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564362302	chr1:173340991-173340992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528339520	chr1:173341015-173341016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145835956	chr1:173341033-173341034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188219164	chr1:173341048-173341049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374814227	chr1:173341102-173341103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558849444	chr1:173341153-173341154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528957022	chr1:173341185-173341186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370663733	chr1:173341205-173341206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568549512	chr1:173341212-173341213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532758571	chr1:173341222-173341223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552499310	chr1:173341225-173341226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190421474	chr1:173341230-173341231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148977528	chr1:173341231-173341232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1832847	chr1:173341415-173341416	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs574121660	chr1:173341434-173341435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182092522	chr1:173341436-173341437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553792821	chr1:173341445-173341446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79139561	chr1:173341467-173341468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575748817	chr1:173341478-173341479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546213193	chr1:173341496-173341497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200336387	chr1:173341517-173341518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
Myelofibrosis	22110671	CNVD
Breast cancer	21509527	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173330400-173344800	Weak transcription	Primary T cells from cord blood	blood
2	chr1:173330400-173355400	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr1:173333200-173340400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:173339000-173340600	Enhancers	K562	blood
5	chr1:173340400-173340600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:173340400-173340600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr1:173343800-173347000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:173344800-173345600	ZNF genes & repeats	Primary T cells from cord blood	blood
9	chr1:173345600-173346800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:173345600-173368000	Weak transcription	Primary T cells from cord blood	blood
11	chr1:173346400-173346800	ZNF genes & repeats	Aorta	Aorta
12	chr1:173346800-173363800	Weak transcription	Aorta	Aorta
13	chr1:173347000-173348600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:173347200-173375000	Weak transcription	Spleen	Spleen
15	chr1:173348400-173349200	Enhancers	K562	blood
16	chr1:173348600-173349000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:173348600-173389400	Weak transcription	Right Ventricle	heart

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