Variant report

Variant	esv3584614
Chromosome Location	chr1:239590223-239601163
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:239597996..239599675-chr1:239599865..239601591,2	K562	blood:
2	chr1:239597996..239599675-chr1:239599865..239601591,2	K562	blood:
3	chr1:239595515..239596274-chr19:36392405..36393038,2	MCF-7	breast:

Extended variants
information (count: 408 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:408 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6429138	chr1:239590223-239590224	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs554984932	chr1:239590264-239590265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573223567	chr1:239590326-239590327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35019974	chr1:239590394-239590395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540745229	chr1:239590407-239590408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564887971	chr1:239590431-239590432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79091190	chr1:239590510-239590511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544045401	chr1:239590554-239590555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373890498	chr1:239590566-239590567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371596492	chr1:239590615-239590616	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187048831	chr1:239590632-239590633	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529971599	chr1:239590680-239590681	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547842825	chr1:239590717-239590718	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560114258	chr1:239590742-239590743	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527350073	chr1:239590799-239590800	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555896730	chr1:239590806-239590807	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190077385	chr1:239590835-239590836	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182360194	chr1:239590851-239590852	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs61485588	chr1:239590852-239590853	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs551226544	chr1:239590908-239590909	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569558991	chr1:239590938-239590939	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536970400	chr1:239590982-239590983	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375659774	chr1:239591026-239591027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186591593	chr1:239591172-239591173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368385401	chr1:239591201-239591202	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs193290012	chr1:239591215-239591216	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558620549	chr1:239591249-239591250	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576949748	chr1:239591258-239591259	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146757289	chr1:239591287-239591288	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140448308	chr1:239591303-239591304	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185606512	chr1:239591325-239591326	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541306856	chr1:239591332-239591333	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143584999	chr1:239591352-239591353	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559854624	chr1:239591353-239591354	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549029110	chr1:239591362-239591363	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371906181	chr1:239591399-239591400	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527271566	chr1:239591416-239591417	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567420138	chr1:239591423-239591424	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551932266	chr1:239591443-239591444	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375288228	chr1:239591463-239591464	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs72754667	chr1:239591465-239591466	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs151255206	chr1:239591466-239591467	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528309691	chr1:239591471-239591472	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565743780	chr1:239591473-239591474	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140489664	chr1:239591500-239591501	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111787087	chr1:239591523-239591524	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114892872	chr1:239591551-239591552	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531975419	chr1:239591644-239591645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116645995	chr1:239591721-239591722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536501211	chr1:239591723-239591724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Liposarcoma	21253554	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
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	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
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:239582200-239590600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr1:239585400-239590400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:239586400-239590600	Weak transcription	Pancreas	Pancrea
4	chr1:239587000-239591200	Weak transcription	Fetal Intestine Large	intestine
5	chr1:239588200-239595000	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:239590200-239590600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:239590200-239591800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:239590600-239590800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:239590600-239591000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr1:239590600-239591400	Enhancers	Gastric	stomach
11	chr1:239590600-239591600	Enhancers	Pancreas	Pancrea
12	chr1:239590800-239591200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:239590800-239591600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:239590800-239591600	Enhancers	Fetal Intestine Small	intestine
15	chr1:239591000-239591400	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr1:239591200-239591600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr1:239591200-239591600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:239591200-239591600	Enhancers	Fetal Intestine Large	intestine
19	chr1:239591200-239592200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:239591400-239591600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
21	chr1:239591400-239591800	Enhancers	H9 Cell Line	embryonic stem cell
22	chr1:239591600-239592000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:239591600-239592600	Weak transcription	Fetal Intestine Large	intestine
24	chr1:239591600-239592800	Weak transcription	Fetal Intestine Small	intestine
25	chr1:239591600-239595200	Weak transcription	Pancreas	Pancrea
26	chr1:239592000-239592400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:239592400-239592600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:239592600-239593200	Enhancers	Fetal Brain Male	brain
29	chr1:239592600-239594400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:239592800-239593000	Enhancers	Fetal Intestine Large	intestine
31	chr1:239592800-239593000	Enhancers	Fetal Intestine Small	intestine
32	chr1:239592800-239593400	Enhancers	Duodenum Mucosa	Duodenum
33	chr1:239593200-239594000	Weak transcription	Fetal Brain Male	brain
34	chr1:239594000-239594200	Enhancers	Fetal Brain Male	brain
35	chr1:239594400-239595400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:239595000-239595200	Enhancers	Colon Smooth Muscle	Colon
37	chr1:239595200-239595400	Enhancers	Pancreas	Pancrea
38	chr1:239595200-239595600	Weak transcription	Colon Smooth Muscle	Colon
39	chr1:239595400-239595600	Enhancers	Small Intestine	intestine
40	chr1:239595400-239599400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:239595400-239614200	Weak transcription	Pancreas	Pancrea
42	chr1:239595600-239595800	Enhancers	Colon Smooth Muscle	Colon
43	chr1:239595800-239597400	Weak transcription	Colon Smooth Muscle	Colon
44	chr1:239596600-239597800	Enhancers	Rectal Smooth Muscle	rectum
45	chr1:239597200-239597600	Enhancers	Ovary	ovary
46	chr1:239597200-239597800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:239597200-239598000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:239597400-239598200	Enhancers	Colon Smooth Muscle	Colon
49	chr1:239597600-239613000	Weak transcription	Ovary	ovary
50	chr1:239597800-239601800	Weak transcription	Rectal Smooth Muscle	rectum

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