Variant report

Variant	esv2462320
Chromosome Location	chr1:180182918-180184580
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180183081..180185563-chr1:180187908..180189784,2	K562	blood:
2	chr1:180179618..180183395-chr1:180184350..180187119,5	K562	blood:
3	chr1:180183289..180186252-chr1:180197125..180198628,2	MCF-7	breast:
4	chr1:180179618..180183395-chr1:180184350..180187119,5	K562	blood:
5	chr1:180183763..180186747-chr1:180199591..180203355,3	MCF-7	breast:

Extended variants
information (count: 60 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138979070	chr1:180182936-180182937	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570174	chr1:180182972-180182973	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs551526586	chr1:180182988-180182989	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571335857	chr1:180183113-180183114	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs35724524	chr1:180183157-180183158	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs527303342	chr1:180183185-180183186	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs184214319	chr1:180183263-180183264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567055027	chr1:180183264-180183265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141669394	chr1:180183287-180183288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566044235	chr1:180183322-180183323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188278434	chr1:180183369-180183370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs56332928	chr1:180183400-180183401	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs371341210	chr1:180183426-180183427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150120578	chr1:180183505-180183506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138364474	chr1:180183516-180183517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533612285	chr1:180183521-180183522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs56050375	chr1:180183536-180183537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs398074456	chr1:180183545-180183546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs397982131	chr1:180183546-180183547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181174811	chr1:180183564-180183565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs377471955	chr1:180183573-180183574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567653731	chr1:180183584-180183585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12408974	chr1:180183585-180183586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573940180	chr1:180183617-180183618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542974472	chr1:180183662-180183663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10913950	chr1:180183676-180183677	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs147419361	chr1:180183677-180183678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545189694	chr1:180183792-180183793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564838418	chr1:180183873-180183874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527333833	chr1:180183875-180183876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556655482	chr1:180183883-180183884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568850780	chr1:180183902-180183903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547167783	chr1:180183952-180183953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560973797	chr1:180183955-180183956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539123027	chr1:180183990-180183991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557839783	chr1:180184009-180184010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573074026	chr1:180184013-180184014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534018250	chr1:180184036-180184037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs61809100	chr1:180184073-180184074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs61809101	chr1:180184079-180184080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs61809102	chr1:180184093-180184094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs61809103	chr1:180184097-180184098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs61809104	chr1:180184103-180184104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs61809105	chr1:180184104-180184105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs61809106	chr1:180184111-180184112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs56000377	chr1:180184130-180184131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs55793551	chr1:180184146-180184147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201635154	chr1:180184149-180184150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs202178842	chr1:180184150-180184151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs73042408	chr1:180184188-180184189	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:87)

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
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
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
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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180164800-180187800	Weak transcription	Right Atrium	heart
2	chr1:180182400-180183000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:180182400-180183200	Flanking Active TSS	Dnd41	blood
4	chr1:180182600-180183000	Enhancers	Primary T cells from cord blood	blood
5	chr1:180182600-180183000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr1:180182600-180183000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:180182600-180183000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:180182600-180183000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:180182600-180183000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:180182600-180183000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr1:180182600-180183000	Enhancers	Placenta	Placenta
12	chr1:180182600-180183000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr1:180182600-180183000	Enhancers	HSMM	muscle
14	chr1:180182600-180183000	Active TSS	Monocytes-CD14+_RO01746	blood
15	chr1:180182600-180183200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
16	chr1:180182600-180183200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:180182600-180183200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr1:180182600-180183200	Enhancers	Fetal Thymus	thymus
19	chr1:180182600-180183200	Enhancers	Thymus	Thymus
20	chr1:180182600-180183200	Flanking Active TSS	K562	blood
21	chr1:180182600-180183400	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr1:180182600-180183400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr1:180182600-180183400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:180182600-180183400	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr1:180182600-180183400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:180182600-180183400	Enhancers	Fetal Lung	lung
27	chr1:180182600-180183400	Enhancers	Fetal Muscle Leg	muscle
28	chr1:180182800-180183000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
29	chr1:180182800-180183000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr1:180182800-180183000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr1:180182800-180183000	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr1:180182800-180183000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
33	chr1:180182800-180183000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr1:180182800-180183000	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr1:180182800-180183000	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr1:180182800-180183000	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr1:180182800-180183000	Enhancers	Brain Substantia Nigra	brain
38	chr1:180182800-180183000	Enhancers	HSMMtube	muscle
39	chr1:180182800-180183000	Enhancers	NHLF	lung
40	chr1:180182800-180183200	Enhancers	H1 Cell Line	embryonic stem cell
41	chr1:180182800-180183200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr1:180182800-180183200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:180182800-180183200	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr1:180182800-180183200	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr1:180182800-180183200	Enhancers	Brain Germinal Matrix	brain
46	chr1:180182800-180183200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr1:180182800-180183200	Weak transcription	Spleen	Spleen
48	chr1:180182800-180183200	Enhancers	GM12878-XiMat	blood
49	chr1:180183000-180183200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
50	chr1:180183000-180183200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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