Variant report

Variant	esv3362317
Chromosome Location	chr1:223109129-223111477
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 153 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:153 , 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	rs116693955	chr1:223109180-223109181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541706453	chr1:223109192-223109193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533551952	chr1:223109205-223109206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568983555	chr1:223109224-223109225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2378616	chr1:223109309-223109310	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs138587075	chr1:223109352-223109353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573415891	chr1:223109359-223109360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368054978	chr1:223109363-223109364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187866571	chr1:223109390-223109391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573669275	chr1:223109432-223109433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191611643	chr1:223109455-223109456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562599378	chr1:223109526-223109527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577704692	chr1:223109588-223109589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545530234	chr1:223109590-223109591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564103896	chr1:223109607-223109608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528322828	chr1:223109616-223109617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs76087627	chr1:223109623-223109624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561966226	chr1:223109670-223109671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182110486	chr1:223109678-223109679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2609343	chr1:223109713-223109714	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs568921916	chr1:223109811-223109812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72742241	chr1:223109813-223109814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145568832	chr1:223109821-223109822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371734338	chr1:223109868-223109869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569484619	chr1:223109869-223109870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201636227	chr1:223109870-223109871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs56655013	chr1:223109881-223109882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs60649710	chr1:223109883-223109884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72200646	chr1:223109884-223109885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12744400	chr1:223109885-223109886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs202047604	chr1:223109887-223109888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538185759	chr1:223109891-223109892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71178506	chr1:223109895-223109896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71178507	chr1:223109920-223109921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71742733	chr1:223109930-223109931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs58978148	chr1:223109934-223109935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12120659	chr1:223109943-223109944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12142997	chr1:223109959-223109960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs59562360	chr1:223109968-223109969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187221743	chr1:223109969-223109970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113177785	chr1:223109971-223109972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112218632	chr1:223109972-223109973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536931781	chr1:223109984-223109985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12143000	chr1:223109985-223109986	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs375764830	chr1:223109995-223109996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554256056	chr1:223109999-223110000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs57175433	chr1:223110010-223110011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs57995298	chr1:223110019-223110020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572904778	chr1:223110026-223110027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs56371431	chr1:223110027-223110028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223092400-223116200	Weak transcription	Primary B cells from cord blood	blood
2	chr1:223100200-223116200	Weak transcription	Fetal Intestine Small	intestine
3	chr1:223102000-223113600	Weak transcription	Left Ventricle	heart
4	chr1:223102000-223116200	Weak transcription	Brain Substantia Nigra	brain
5	chr1:223102200-223116000	Weak transcription	Placenta	Placenta
6	chr1:223102200-223116200	Weak transcription	Fetal Stomach	stomach
7	chr1:223102200-223116200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr1:223102200-223119400	Weak transcription	NHLF	lung
9	chr1:223102200-223128000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:223102200-223130800	Weak transcription	Fetal Brain Male	brain
11	chr1:223102400-223121600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr1:223102600-223109200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:223102600-223117800	Weak transcription	Psoas Muscle	Psoas
14	chr1:223102600-223121200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:223102800-223116200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:223102800-223124400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:223103200-223116200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr1:223103800-223116200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr1:223104400-223116200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:223105000-223116400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:223105000-223128800	Weak transcription	Ovary	ovary
22	chr1:223105200-223118400	Weak transcription	HSMMtube	muscle
23	chr1:223105400-223115000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:223105400-223116400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:223105400-223119000	Weak transcription	Right Atrium	heart
26	chr1:223105600-223112200	Weak transcription	Fetal Lung	lung
27	chr1:223106200-223116200	Weak transcription	Stomach Mucosa	stomach
28	chr1:223108000-223109800	Enhancers	Colon Smooth Muscle	Colon
29	chr1:223108000-223120600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr1:223108400-223109600	Enhancers	Rectal Smooth Muscle	rectum
31	chr1:223109000-223109200	Enhancers	Right Ventricle	heart
32	chr1:223109200-223109600	Enhancers	Stomach Smooth Muscle	stomach
33	chr1:223109200-223116200	Weak transcription	Right Ventricle	heart
34	chr1:223109600-223114400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr1:223109600-223116200	Weak transcription	Liver	Liver
36	chr1:223109600-223116200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr1:223109800-223114200	Weak transcription	Colon Smooth Muscle	Colon
38	chr1:223111200-223111400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:223111200-223111400	Enhancers	Brain Anterior Caudate	brain
40	chr1:223111200-223112400	Weak transcription	Fetal Kidney	kidney
41	chr1:223111400-223116200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:223111400-223116200	Weak transcription	Brain Anterior Caudate	brain

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