Variant report

Variant	esv1828305
Chromosome Location	chr1:174796556-174801840
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	chr1:174790254..174793205-chr1:174795715..174797901,2	K562	blood:
3	chr1:174787124..174790078-chr1:174796659..174798420,2	K562	blood:
4	chr1:174132422..174134111-chr1:174800626..174802567,2	K562	blood:
5	chr1:174790148..174791754-chr1:174795715..174797239,2	K562	blood:

Extended variants
information (count: 132 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59605831	chr1:174796596-174796597	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75613731	chr1:174796609-174796610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs28615954	chr1:174796615-174796616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556623458	chr1:174796642-174796643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576356382	chr1:174796687-174796688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545425444	chr1:174796688-174796689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76572643	chr1:174796816-174796817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs397825622	chr1:174796825-174796826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572803397	chr1:174796851-174796852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565211295	chr1:174796869-174796870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541766465	chr1:174796883-174796884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561431474	chr1:174796993-174796994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376053167	chr1:174797039-174797040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78405822	chr1:174797048-174797049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs58824296	chr1:174797107-174797108	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs77515017	chr1:174797116-174797117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533759172	chr1:174797130-174797131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75299700	chr1:174797179-174797180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570934988	chr1:174797202-174797203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527549435	chr1:174797219-174797220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547299003	chr1:174797281-174797282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567303472	chr1:174797409-174797410	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182147286	chr1:174797430-174797431	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375473487	chr1:174797491-174797492	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147257595	chr1:174797548-174797549	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368081107	chr1:174797562-174797563	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570166482	chr1:174797598-174797599	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539012981	chr1:174797603-174797604	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187678556	chr1:174797724-174797725	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572488012	chr1:174797737-174797738	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs371607276	chr1:174797740-174797741	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372595404	chr1:174797743-174797744	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542602702	chr1:174797778-174797779	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550732150	chr1:174797859-174797860	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574928995	chr1:174797861-174797862	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78046773	chr1:174797864-174797865	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2156853	chr1:174797867-174797868	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs536391762	chr1:174797895-174797896	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192209321	chr1:174797938-174797939	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544720947	chr1:174797942-174797943	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184045646	chr1:174797974-174797975	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527294803	chr1:174798111-174798112	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547288906	chr1:174798281-174798282	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188631340	chr1:174798439-174798440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11802150	chr1:174798485-174798486	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs549975543	chr1:174798561-174798562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184339260	chr1:174798584-174798585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559101336	chr1:174798597-174798598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566030152	chr1:174798738-174798739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12123947	chr1:174798749-174798750	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:37 , 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	chr1:174782200-174813000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr1:174782600-174799200	Weak transcription	Liver	Liver
6	chr1:174784400-174797200	Weak transcription	Esophagus	oesophagus
7	chr1:174784800-174806600	Weak transcription	HSMMtube	muscle
8	chr1:174785600-174796800	Weak transcription	Primary B cells from peripheral blood	blood
9	chr1:174786800-174798200	Weak transcription	Left Ventricle	heart
10	chr1:174789000-174797400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:174792600-174801600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:174794400-174797400	Weak transcription	NHEK	skin
13	chr1:174795600-174797200	Weak transcription	Fetal Intestine Small	intestine
14	chr1:174795800-174797400	Weak transcription	GM12878-XiMat	blood
15	chr1:174796000-174796600	Strong transcription	Primary B cells from cord blood	blood
16	chr1:174796000-174796800	Enhancers	Fetal Heart	heart
17	chr1:174796400-174797400	Weak transcription	Fetal Thymus	thymus
18	chr1:174796600-174796800	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr1:174796600-174833400	Weak transcription	Primary B cells from cord blood	blood
20	chr1:174797200-174798400	Enhancers	HMEC	breast
21	chr1:174797400-174797600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr1:174797400-174797600	Enhancers	Esophagus	oesophagus
23	chr1:174797400-174797600	Enhancers	Fetal Thymus	thymus
24	chr1:174797400-174797800	Genic enhancers	GM12878-XiMat	blood
25	chr1:174797400-174798000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:174797400-174798400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:174797400-174798400	Enhancers	NHEK	skin
28	chr1:174797600-174797800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr1:174797600-174797800	Enhancers	Thymus	Thymus
30	chr1:174797800-174798400	Strong transcription	GM12878-XiMat	blood
31	chr1:174798400-174810800	Weak transcription	GM12878-XiMat	blood
32	chr1:174800800-174801600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr1:174801600-174801800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr1:174801600-174801800	Enhancers	Brain Cingulate Gyrus	brain
35	chr1:174801600-174801800	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr1:174801600-174802200	Enhancers	Brain Angular Gyrus	brain
37	chr1:174801800-174808400	Weak transcription	Brain Cingulate Gyrus	brain

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