Variant report

Variant	esv3358436
Chromosome Location	chr1:246233429-246237627
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:246228312..246231050-chr1:246233097..246234864,3	K562	blood:
2	chr1:246232489..246234482-chr1:246354523..246357372,2	K562	blood:
3	chr1:246231832..246234229-chr1:246235006..246238019,3	K562	blood:
4	chr1:246235580..246237637-chr1:246239913..246241714,2	K562	blood:
5	chr1:246231832..246234229-chr1:246235006..246238019,3	K562	blood:
6	chr1:246237075..246239017-chr1:246241942..246243808,2	K562	blood:

Variant related genes	Relation type
ENSG00000185420	chromatin interactions

Extended variants
information (count: 227 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:227 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2787997	chr1:246233442-246233443	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs146126479	chr1:246233444-246233445	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs140105667	chr1:246233481-246233482	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs2787998	chr1:246233492-246233493	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs142403660	chr1:246233505-246233506	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs192428790	chr1:246233508-246233509	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs151180879	chr1:246233512-246233513	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs78222676	chr1:246233518-246233519	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs559337941	chr1:246233536-246233537	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs183948162	chr1:246233545-246233546	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs115003894	chr1:246233615-246233616	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs564916647	chr1:246233626-246233627	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs2787999	chr1:246233630-246233631	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs550892691	chr1:246233635-246233636	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs369736768	chr1:246233659-246233660	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs555381590	chr1:246233704-246233705	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs112638478	chr1:246233710-246233711	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs546588975	chr1:246233721-246233722	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs566487622	chr1:246233742-246233743	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs111681212	chr1:246233744-246233745	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs2787969	chr1:246233779-246233780	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs578106871	chr1:246233805-246233806	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs376984893	chr1:246233917-246233918	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs537202257	chr1:246233929-246233930	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs557142126	chr1:246233964-246233965	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs2787968	chr1:246233969-246233970	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs542936015	chr1:246233970-246233971	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs139086049	chr1:246233972-246233973	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs545185318	chr1:246233973-246233974	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs573224162	chr1:246233988-246233989	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs149886445	chr1:246234006-246234007	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs139151579	chr1:246234032-246234033	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs2787967	chr1:246234042-246234043	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs147554385	chr1:246234061-246234062	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs142288518	chr1:246234078-246234079	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs543669584	chr1:246234098-246234099	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs12075850	chr1:246234124-246234125	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs146069939	chr1:246234151-246234152	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs566333045	chr1:246234164-246234165	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs10924483	chr1:246234173-246234174	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs548708936	chr1:246234204-246234205	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs192863181	chr1:246234250-246234251	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs375621615	chr1:246234320-246234321	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs57358675	chr1:246234352-246234353	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs551887142	chr1:246234367-246234368	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs12565239	chr1:246234425-246234426	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs374081375	chr1:246234428-246234429	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs563977610	chr1:246234455-246234456	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs34416507	chr1:246234473-246234474	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs10924484	chr1:246234535-246234536	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	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
Neuroblastoma	21899760	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	20729466	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	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
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
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD
Schizophrenia	20967226	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246203800-246257600	Weak transcription	Primary T cells from cord blood	blood
2	chr1:246231000-246234200	Enhancers	K562	blood
3	chr1:246231000-246235000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:246231400-246234200	Enhancers	Primary hematopoietic stem cells	blood
5	chr1:246231400-246234800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:246231400-246235000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:246231400-246235200	Weak transcription	NHDF-Ad	bronchial
8	chr1:246231400-246238000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:246231400-246239800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:246231800-246234800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:246232000-246235400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr1:246232000-246240200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:246232200-246234000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr1:246232200-246235000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr1:246232200-246236000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:246232400-246234400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr1:246232600-246233600	Enhancers	HSMMtube	muscle
18	chr1:246233000-246233600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:246233000-246233800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr1:246233200-246237800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:246233400-246233600	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr1:246233400-246233800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:246233400-246235000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:246233400-246235000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr1:246233400-246237800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:246233400-246238000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr1:246233600-246234800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:246233600-246236400	Weak transcription	HSMMtube	muscle
29	chr1:246233800-246234000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:246233800-246234800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr1:246234000-246234200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr1:246234000-246235000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr1:246234000-246237200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:246234200-246239600	Weak transcription	K562	blood
35	chr1:246234400-246235000	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr1:246234800-246235000	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr1:246234800-246235000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:246234800-246235000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:246234800-246235200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:246234800-246235800	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr1:246235000-246235200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:246235000-246235200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr1:246235000-246235200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr1:246235000-246235400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr1:246235000-246235600	Enhancers	Spleen	Spleen
46	chr1:246235000-246235800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:246235000-246235800	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr1:246235000-246235800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:246235000-246236400	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr1:246235200-246235400	Enhancers	NHDF-Ad	bronchial

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