Variant report

Variant	esv3453124
Chromosome Location	chr1:174794529-174801327
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:174798481..174800550-chr1:174807771..174810609,2	MCF-7	breast:
2	chr1:174793359..174795191-chr1:174840553..174843195,2	MCF-7	breast:
3	chr1:174787877..174789729-chr1:174792923..174795229,2	K562	blood:
4	chr1:174790148..174791754-chr1:174795715..174797239,2	K562	blood:
5	chr1:174790254..174793205-chr1:174795715..174797901,2	K562	blood:
6	chr1:174132422..174134111-chr1:174800626..174802567,2	K562	blood:
7	chr1:174787124..174790078-chr1:174796659..174798420,2	K562	blood:

Extended variants
information (count: 185 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:185 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147940730	chr1:174794577-174794578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555376426	chr1:174794598-174794599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575391793	chr1:174794694-174794695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141841038	chr1:174794716-174794717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184138513	chr1:174794736-174794737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533276563	chr1:174794771-174794772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540348133	chr1:174794793-174794794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560078810	chr1:174794805-174794806	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1793313	chr1:174794816-174794817	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs549650707	chr1:174794832-174794833	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569492689	chr1:174794847-174794848	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540260574	chr1:174794850-174794851	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551717812	chr1:174794905-174794906	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188134686	chr1:174794921-174794922	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs180675240	chr1:174794925-174794926	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148826543	chr1:174794988-174794989	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116277433	chr1:174795007-174795008	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
18	rs535489312	chr1:174795026-174795027	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555625995	chr1:174795031-174795032	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575483396	chr1:174795093-174795094	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544372297	chr1:174795107-174795108	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557637619	chr1:174795118-174795119	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184378128	chr1:174795135-174795136	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552919308	chr1:174795153-174795154	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540286106	chr1:174795230-174795231	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190486835	chr1:174795240-174795241	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143474496	chr1:174795255-174795256	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542693492	chr1:174795258-174795259	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182208716	chr1:174795276-174795277	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs74524401	chr1:174795281-174795282	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1793309	chr1:174795337-174795338	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs7411689	chr1:174795340-174795341	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs565439205	chr1:174795341-174795342	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs137935438	chr1:174795355-174795356	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186877362	chr1:174795432-174795433	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574809476	chr1:174795443-174795444	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543829756	chr1:174795446-174795447	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560924814	chr1:174795455-174795456	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566611295	chr1:174795456-174795457	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140949086	chr1:174795465-174795466	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144763385	chr1:174795470-174795471	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568854825	chr1:174795521-174795522	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs537714284	chr1:174795640-174795641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537775498	chr1:174795685-174795686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs115963617	chr1:174795686-174795687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577368151	chr1:174795731-174795732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540322254	chr1:174795752-174795753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533781112	chr1:174795809-174795810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553837000	chr1:174795868-174795869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573826397	chr1:174795903-174795904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174772200-174796600	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr1:174777600-174799800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:174782000-174800800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr1:174782200-174794800	Weak transcription	Fetal Intestine Small	intestine
5	chr1:174782200-174813000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr1:174782600-174799200	Weak transcription	Liver	Liver
7	chr1:174784400-174797200	Weak transcription	Esophagus	oesophagus
8	chr1:174784800-174806600	Weak transcription	HSMMtube	muscle
9	chr1:174785600-174796000	Weak transcription	Primary B cells from cord blood	blood
10	chr1:174785600-174796800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr1:174786800-174798200	Weak transcription	Left Ventricle	heart
12	chr1:174789000-174797400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:174792600-174801600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr1:174794000-174795800	Enhancers	Thymus	Thymus
15	chr1:174794200-174796400	Enhancers	Fetal Thymus	thymus
16	chr1:174794400-174797400	Weak transcription	NHEK	skin
17	chr1:174794800-174795600	Strong transcription	Fetal Intestine Small	intestine
18	chr1:174795200-174795800	Enhancers	GM12878-XiMat	blood
19	chr1:174795600-174797200	Weak transcription	Fetal Intestine Small	intestine
20	chr1:174795800-174797400	Weak transcription	GM12878-XiMat	blood
21	chr1:174796000-174796600	Strong transcription	Primary B cells from cord blood	blood
22	chr1:174796000-174796800	Enhancers	Fetal Heart	heart
23	chr1:174796400-174797400	Weak transcription	Fetal Thymus	thymus
24	chr1:174796600-174796800	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr1:174796600-174833400	Weak transcription	Primary B cells from cord blood	blood
26	chr1:174797200-174798400	Enhancers	HMEC	breast
27	chr1:174797400-174797600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr1:174797400-174797600	Enhancers	Esophagus	oesophagus
29	chr1:174797400-174797600	Enhancers	Fetal Thymus	thymus
30	chr1:174797400-174797800	Genic enhancers	GM12878-XiMat	blood
31	chr1:174797400-174798000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:174797400-174798400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:174797400-174798400	Enhancers	NHEK	skin
34	chr1:174797600-174797800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:174797600-174797800	Enhancers	Thymus	Thymus
36	chr1:174797800-174798400	Strong transcription	GM12878-XiMat	blood
37	chr1:174798400-174810800	Weak transcription	GM12878-XiMat	blood
38	chr1:174800800-174801600	Weak transcription	Brain Cingulate Gyrus	brain

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