Variant report

Variant	esv1812464
Chromosome Location	chr1:224077300-224090657
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224070627..224072910-chr1:224076240..224077802,2	K562	blood:

Extended variants
information (count: 338 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:338 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375136971	chr1:224077301-224077302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185758876	chr1:224077309-224077310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534706664	chr1:224077350-224077351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34607346	chr1:224077367-224077368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147487355	chr1:224077389-224077390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575140122	chr1:224077424-224077425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574310400	chr1:224077443-224077444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs34299856	chr1:224077486-224077487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541823187	chr1:224077493-224077494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563800634	chr1:224077508-224077509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182021129	chr1:224077541-224077542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs3872199	chr1:224077553-224077554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546120834	chr1:224077583-224077584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564327880	chr1:224077593-224077594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546641469	chr1:224077598-224077599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562229220	chr1:224077599-224077600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529246501	chr1:224077863-224077864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550934001	chr1:224078096-224078097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569194464	chr1:224078110-224078111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369162279	chr1:224078112-224078113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552551146	chr1:224078252-224078253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570615596	chr1:224078264-224078265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534820967	chr1:224078359-224078360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552757836	chr1:224078372-224078373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568167769	chr1:224078383-224078384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200828483	chr1:224078421-224078422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144843992	chr1:224078435-224078436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184660887	chr1:224078445-224078446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147575828	chr1:224078465-224078466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115608392	chr1:224078478-224078479	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
31	rs189155859	chr1:224078509-224078510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573058375	chr1:224078587-224078588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540450264	chr1:224078651-224078652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562175579	chr1:224078661-224078662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529376336	chr1:224078704-224078705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201660046	chr1:224078717-224078718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562897769	chr1:224078752-224078753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs57961271	chr1:224078785-224078786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373430685	chr1:224078819-224078820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200262488	chr1:224078850-224078851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570773811	chr1:224078921-224078922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs180998353	chr1:224078998-224078999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546752388	chr1:224078999-224079000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568195803	chr1:224079012-224079013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535522318	chr1:224079019-224079020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149703290	chr1:224079032-224079033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10915956	chr1:224079049-224079050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs115995153	chr1:224079103-224079104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558003319	chr1:224079127-224079128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573180074	chr1:224079145-224079146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224073000-224077400	Enhancers	Liver	Liver
2	chr1:224074400-224079200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:224076200-224077400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:224076600-224077400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr1:224076800-224077400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:224077000-224077400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr1:224077000-224077400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:224077000-224077400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr1:224077000-224077600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr1:224077400-224079000	Weak transcription	Liver	Liver
11	chr1:224077400-224085600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:224079200-224079400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:224079200-224079400	Enhancers	Liver	Liver
14	chr1:224083800-224084000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr1:224084000-224084800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr1:224084000-224085600	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:224084800-224085000	Enhancers	Psoas Muscle	Psoas
18	chr1:224084800-224086400	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr1:224085000-224086000	Weak transcription	Psoas Muscle	Psoas
20	chr1:224085400-224087400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:224085600-224086200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:224086000-224086400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:224086000-224086400	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr1:224086000-224086400	Enhancers	Psoas Muscle	Psoas
25	chr1:224086000-224086400	Enhancers	NHDF-Ad	bronchial
26	chr1:224086200-224087600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:224087600-224087800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:224087600-224087800	Enhancers	Fetal Muscle Leg	muscle

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