Variant report

Variant	esv3430657
Chromosome Location	chr1:239395029-239397077
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546427282	chr1:239395038-239395039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571105064	chr1:239395075-239395076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184222371	chr1:239395088-239395089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187709798	chr1:239395090-239395091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570099731	chr1:239395119-239395120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560150984	chr1:239395139-239395140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12075647	chr1:239395140-239395141	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs555750712	chr1:239395180-239395181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574397958	chr1:239395202-239395203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527603389	chr1:239395209-239395210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190615771	chr1:239395218-239395219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553650195	chr1:239395267-239395268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182931818	chr1:239395283-239395284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2790654	chr1:239395430-239395431	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs35453116	chr1:239395431-239395432	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs2820014	chr1:239395448-239395449	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs187225847	chr1:239395451-239395452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2790653	chr1:239395466-239395467	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs528414441	chr1:239395470-239395471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546464119	chr1:239395511-239395512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10925847	chr1:239395555-239395556	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs192913934	chr1:239395569-239395570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532222271	chr1:239395603-239395604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550723024	chr1:239395679-239395680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10925848	chr1:239395693-239395694	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs116764813	chr1:239395733-239395734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531296400	chr1:239395734-239395735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143036398	chr1:239395736-239395737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200666037	chr1:239395747-239395748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201733601	chr1:239395754-239395755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535367990	chr1:239395764-239395765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12406073	chr1:239395817-239395818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10925849	chr1:239395823-239395824	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs538885379	chr1:239395842-239395843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs56058219	chr1:239395862-239395863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199913789	chr1:239395903-239395904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114201622	chr1:239395918-239395919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10925850	chr1:239395925-239395926	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs560575196	chr1:239395961-239395962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572486718	chr1:239395965-239395966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184732557	chr1:239395988-239395989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10925851	chr1:239395993-239395994	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs138096119	chr1:239396007-239396008	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs10925852	chr1:239396013-239396014	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs550510481	chr1:239396023-239396024	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562694413	chr1:239396046-239396047	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188028112	chr1:239396059-239396060	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs16838047	chr1:239396065-239396066	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs567698095	chr1:239396115-239396116	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192254096	chr1:239396134-239396135	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:239394800-239396200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:239395000-239396000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr1:239395000-239396200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:239395000-239396400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:239395000-239396600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:239395000-239396600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:239395200-239396200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:239396000-239396400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:239396000-239396400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr1:239396000-239396400	Enhancers	Stomach Mucosa	stomach
11	chr1:239396000-239396600	Enhancers	Fetal Intestine Large	intestine
12	chr1:239396000-239397800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr1:239396200-239396400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr1:239396200-239396800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr1:239396200-239397000	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr1:239396200-239397600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr1:239396200-239397600	Enhancers	Fetal Intestine Small	intestine
18	chr1:239396200-239397800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:239396400-239396800	Enhancers	H9 Cell Line	embryonic stem cell
20	chr1:239396400-239397200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:239396400-239397200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:239396400-239397200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:239396600-239397200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:239396600-239397400	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr1:239396600-239397800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr1:239396800-239399000	Weak transcription	H9 Cell Line	embryonic stem cell

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