Variant report

Variant	esv3366284
Chromosome Location	chr1:174323429-174327027
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577744255	chr1:174323524-174323525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs180737811	chr1:174323592-174323593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553640940	chr1:174323600-174323601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116141661	chr1:174323677-174323678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568919039	chr1:174323717-174323718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535792186	chr1:174323792-174323793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185088403	chr1:174323840-174323841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190729878	chr1:174323973-174323974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576433310	chr1:174323977-174323978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148706302	chr1:174324024-174324025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565375811	chr1:174324051-174324052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182291802	chr1:174324056-174324057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186960849	chr1:174324095-174324096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143500960	chr1:174324104-174324105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561521935	chr1:174324113-174324114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377633714	chr1:174324301-174324302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528908432	chr1:174324314-174324315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191704552	chr1:174324326-174324327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113398878	chr1:174324330-174324331	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
20	rs537572941	chr1:174324363-174324364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551441950	chr1:174324367-174324368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183210094	chr1:174324385-174324386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533692698	chr1:174324411-174324412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553659376	chr1:174324421-174324422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374837788	chr1:174324495-174324496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536267058	chr1:174324516-174324517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573434754	chr1:174324517-174324518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371119747	chr1:174324556-174324557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576367614	chr1:174324559-174324560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs367904608	chr1:174324560-174324561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545210649	chr1:174324566-174324567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565373093	chr1:174324607-174324608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12065180	chr1:174324615-174324616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541600221	chr1:174324619-174324620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561585474	chr1:174324622-174324623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530391900	chr1:174324649-174324650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187044911	chr1:174324657-174324658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562379463	chr1:174324702-174324703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558642058	chr1:174324714-174324715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190344371	chr1:174324717-174324718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182110340	chr1:174324765-174324766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116545606	chr1:174324852-174324853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533753156	chr1:174324926-174324927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547161153	chr1:174324947-174324948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75439498	chr1:174324965-174324966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536186495	chr1:174325043-174325044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs117294233	chr1:174325053-174325054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs186831800	chr1:174325085-174325086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs74128367	chr1:174325131-174325132	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs140354645	chr1:174325244-174325245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174298000-174361800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr1:174310600-174362400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:174315600-174366400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr1:174317400-174326800	Weak transcription	Primary T cells from cord blood	blood
5	chr1:174317400-174342400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr1:174318800-174369800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:174319200-174362600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr1:174322200-174328600	Weak transcription	Psoas Muscle	Psoas
9	chr1:174322400-174327000	Weak transcription	Primary B cells from cord blood	blood
10	chr1:174322400-174363000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr1:174322600-174328200	Weak transcription	Fetal Brain Male	brain
12	chr1:174322600-174334000	Weak transcription	Gastric	stomach
13	chr1:174322800-174327400	Weak transcription	Left Ventricle	heart
14	chr1:174323000-174325000	Weak transcription	GM12878-XiMat	blood
15	chr1:174323200-174326200	Weak transcription	Fetal Heart	heart
16	chr1:174325000-174325400	Enhancers	GM12878-XiMat	blood
17	chr1:174325400-174331200	Weak transcription	GM12878-XiMat	blood
18	chr1:174325800-174382800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:174326200-174328400	Enhancers	Fetal Heart	heart
20	chr1:174326200-174328800	Weak transcription	Brain Hippocampus Middle	brain
21	chr1:174326200-174334000	Weak transcription	Pancreas	Pancrea
22	chr1:174326400-174346800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:174326800-174327000	Enhancers	Fetal Intestine Small	intestine
24	chr1:174326800-174327400	Strong transcription	Primary T cells from cord blood	blood
25	chr1:174327000-174327400	Strong transcription	Primary B cells from cord blood	blood

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