Variant report

Variant	esv1004280
Chromosome Location	chr1:223273275-223277103
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:223271779..223273735-chr1:223275202..223277036,2	MCF-7	breast:
2	chr1:223275284..223278279-chr1:223280567..223284100,3	MCF-7	breast:
3	chr1:223271779..223273735-chr1:223275202..223277036,2	MCF-7	breast:
4	chr1:223268458..223270530-chr1:223275710..223277683,2	MCF-7	breast:

Extended variants
information (count: 135 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551951752	chr1:223273276-223273277	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs369016250	chr1:223273403-223273404	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs7414121	chr1:223273405-223273406	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs149732786	chr1:223273431-223273432	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs190840119	chr1:223273551-223273552	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs116444744	chr1:223273581-223273582	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs144683069	chr1:223273586-223273587	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs182706472	chr1:223273590-223273591	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs375535291	chr1:223273624-223273625	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs187530797	chr1:223273642-223273643	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs533011850	chr1:223273665-223273666	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs367603457	chr1:223273689-223273690	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs371825872	chr1:223273692-223273693	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs562297930	chr1:223273720-223273721	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs533007248	chr1:223273806-223273807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs35737021	chr1:223273813-223273814	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs560223450	chr1:223273823-223273824	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs192983548	chr1:223273874-223273875	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs373492286	chr1:223273899-223273900	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs148499465	chr1:223273905-223273906	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs376761432	chr1:223273918-223273919	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs567286235	chr1:223273925-223273926	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs372361089	chr1:223273930-223273931	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs531386505	chr1:223273944-223273945	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs536880899	chr1:223273963-223273964	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs73115888	chr1:223273993-223273994	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs145473035	chr1:223274033-223274034	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs184142206	chr1:223274034-223274035	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs535955015	chr1:223274037-223274038	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs566212874	chr1:223274040-223274041	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs555225366	chr1:223274089-223274090	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs61840135	chr1:223274168-223274169	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs187679356	chr1:223274169-223274170	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs191975662	chr1:223274211-223274212	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs34199805	chr1:223274271-223274272	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs184961429	chr1:223274290-223274291	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs142573320	chr1:223274294-223274295	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs376945192	chr1:223274340-223274341	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs577402670	chr1:223274372-223274373	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs370442833	chr1:223274442-223274443	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544903413	chr1:223274507-223274508	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144815701	chr1:223274577-223274578	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9442457	chr1:223274612-223274613	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572213728	chr1:223274630-223274631	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554094404	chr1:223274633-223274634	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376107551	chr1:223274638-223274639	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564016826	chr1:223274729-223274730	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35691729	chr1:223274759-223274760	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560862913	chr1:223274769-223274770	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34270714	chr1:223274801-223274802	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:95)

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
Acute lymphoblastic leukemia	21098271	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
Endometrioid adenocarcinoma	16974079	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
Congenital diaphragmatic hernia	21085971	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Glioblastoma multiforme	21138945	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223271400-223273800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:223271600-223276000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:223272600-223273800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:223273800-223274200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:223274200-223274400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:223274400-223276400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:223275600-223276400	Enhancers	HUVEC	blood vessel
8	chr1:223276000-223276400	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr1:223276000-223277000	Enhancers	Fetal Intestine Small	intestine
10	chr1:223276000-223283800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:223276200-223276600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:223276200-223276600	Enhancers	Ovary	ovary
13	chr1:223276200-223276600	Enhancers	Right Atrium	heart
14	chr1:223276200-223276600	Enhancers	Right Ventricle	heart
15	chr1:223276200-223276800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:223276200-223276800	Enhancers	Fetal Muscle Trunk	muscle
17	chr1:223276200-223276800	Enhancers	Left Ventricle	heart
18	chr1:223276200-223276800	Enhancers	Spleen	Spleen
19	chr1:223276200-223277000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr1:223276200-223277000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr1:223276200-223277000	Enhancers	Fetal Intestine Large	intestine
22	chr1:223276200-223277000	Enhancers	Fetal Muscle Leg	muscle
23	chr1:223276200-223277000	Enhancers	Fetal Thymus	thymus
24	chr1:223276200-223277000	Enhancers	Stomach Mucosa	stomach
25	chr1:223276400-223276600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:223276400-223276600	Flanking Active TSS	HUVEC	blood vessel
27	chr1:223276400-223276800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:223276400-223276800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:223276400-223276800	Enhancers	Pancreas	Pancrea
30	chr1:223276400-223277000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:223276600-223276800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:223276600-223276800	Enhancers	Esophagus	oesophagus
33	chr1:223276600-223276800	Enhancers	Stomach Smooth Muscle	stomach
34	chr1:223276600-223276800	Enhancers	HUVEC	blood vessel
35	chr1:223276600-223277000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:223276600-223277000	Enhancers	Dnd41	blood
37	chr1:223276600-223279000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:223276600-223284000	Weak transcription	Ovary	ovary
39	chr1:223276600-223287400	Weak transcription	Right Atrium	heart
40	chr1:223276600-223287600	Weak transcription	Right Ventricle	heart
41	chr1:223276800-223277000	Enhancers	Primary T cells from cord blood	blood
42	chr1:223276800-223277000	Flanking Active TSS	HUVEC	blood vessel
43	chr1:223276800-223277600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:223276800-223279800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr1:223276800-223280200	Weak transcription	Left Ventricle	heart
46	chr1:223276800-223280200	Weak transcription	Pancreas	Pancrea
47	chr1:223276800-223280200	Weak transcription	Spleen	Spleen
48	chr1:223276800-223287400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr1:223276800-223302200	Weak transcription	Esophagus	oesophagus
50	chr1:223277000-223277400	Weak transcription	Fetal Muscle Leg	muscle

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