Variant report

Variant	esv2762198
Chromosome Location	chr1:174552605-174559182
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	chr1:174544631..174547612-chr1:174552869..174554719,2	MCF-7	breast:

Extended variants
information (count: 268 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:268 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551126915	chr1:174552630-174552631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs74126843	chr1:174552640-174552641	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs191357223	chr1:174552656-174552657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146007059	chr1:174552722-174552723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74126844	chr1:174552731-174552732	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs74126845	chr1:174552809-174552810	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs17301853	chr1:174552811-174552812	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
8	rs569648586	chr1:174552848-174552849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139909104	chr1:174552868-174552869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149281669	chr1:174552898-174552899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144492645	chr1:174552907-174552908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148416252	chr1:174552932-174552933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142515450	chr1:174552950-174552951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115995269	chr1:174552968-174552969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544056350	chr1:174552999-174553000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs16847226	chr1:174553082-174553083	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs546094575	chr1:174553100-174553101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370091033	chr1:174553153-174553154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532736359	chr1:174553201-174553202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147131098	chr1:174553202-174553203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375617860	chr1:174553205-174553206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559749491	chr1:174553267-174553268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10489263	chr1:174553276-174553277	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs75534464	chr1:174553332-174553333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567044955	chr1:174553340-174553341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529724636	chr1:174553351-174553352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549604061	chr1:174553376-174553377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10489264	chr1:174553448-174553449	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs140212505	chr1:174553476-174553477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372055667	chr1:174553485-174553486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145637268	chr1:174553549-174553550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368306109	chr1:174553610-174553611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531864680	chr1:174553611-174553612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147728544	chr1:174553717-174553718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548215011	chr1:174553748-174553749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535037052	chr1:174553774-174553775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75306744	chr1:174553800-174553801	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575023962	chr1:174553811-174553812	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543926370	chr1:174553838-174553839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557638238	chr1:174553856-174553857	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11290858	chr1:174553977-174553978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75126772	chr1:174553986-174553987	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184584289	chr1:174554051-174554052	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546039988	chr1:174554052-174554053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116212011	chr1:174554068-174554069	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199740293	chr1:174554105-174554106	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187903016	chr1:174554139-174554140	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12751270	chr1:174554140-174554141	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs560537105	chr1:174554187-174554188	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529783984	chr1:174554201-174554202	Weak transcription Strong 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
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
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174545200-174555800	Weak transcription	Psoas Muscle	Psoas
2	chr1:174546000-174573000	Weak transcription	Left Ventricle	heart
3	chr1:174546200-174556800	Weak transcription	Primary B cells from cord blood	blood
4	chr1:174547200-174554400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr1:174552200-174554400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr1:174552800-174554600	Weak transcription	GM12878-XiMat	blood
7	chr1:174553000-174553800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr1:174553400-174554800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:174553600-174570200	Weak transcription	Gastric	stomach
10	chr1:174553800-174555000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:174554400-174554800	Strong transcription	Primary B cells from peripheral blood	blood
12	chr1:174554400-174555000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
13	chr1:174554600-174555000	Strong transcription	GM12878-XiMat	blood
14	chr1:174554800-174555000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
15	chr1:174554800-174555400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr1:174555000-174558600	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr1:174555000-174558600	Weak transcription	GM12878-XiMat	blood
18	chr1:174555000-174574000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr1:174555000-174575000	Weak transcription	Duodenum Mucosa	Duodenum

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