Variant report

Variant	esv2569869
Chromosome Location	chr1:246034890-246036244
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:246023716..246025920-chr1:246033122..246035027,2	K562	blood:
2	chr1:246029738..246031717-chr1:246033304..246035056,2	K562	blood:
3	chr1:246033173..246035050-chr1:246037494..246039763,2	MCF-7	breast:
4	chr1:246035292..246038297-chr1:246038719..246042153,3	MCF-7	breast:
5	chr1:246035195..246037363-chr1:246059907..246062133,2	K562	blood:
6	chr1:246028187..246030314-chr1:246034757..246036995,2	K562	blood:
7	chr1:246024420..246026159-chr1:246033527..246035816,2	K562	blood:
8	chr1:246033705..246036760-chr1:246037432..246040238,3	K562	blood:

No data

Extended variants
information (count: 63 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111297820	chr1:246034922-246034923	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs558874213	chr1:246034923-246034924	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs575568083	chr1:246034939-246034940	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs568538835	chr1:246034956-246034957	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs544625665	chr1:246035023-246035024	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs147709346	chr1:246035038-246035039	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs12124226	chr1:246035054-246035055	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs140938827	chr1:246035097-246035098	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs12744526	chr1:246035118-246035119	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs190521843	chr1:246035147-246035148	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs566050479	chr1:246035185-246035186	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs144283328	chr1:246035219-246035220	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs569160509	chr1:246035254-246035255	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs563322599	chr1:246035268-246035269	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs547820766	chr1:246035325-246035326	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs146090430	chr1:246035351-246035352	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs572756861	chr1:246035399-246035400	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs567811421	chr1:246035427-246035428	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533642472	chr1:246035437-246035438	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553108829	chr1:246035443-246035444	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10924371	chr1:246035492-246035493	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs539288118	chr1:246035533-246035534	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147806580	chr1:246035572-246035573	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576953157	chr1:246035582-246035583	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148821367	chr1:246035584-246035585	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75434485	chr1:246035601-246035602	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs143469368	chr1:246035614-246035615	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs57194645	chr1:246035628-246035629	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs72207027	chr1:246035629-246035630	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs71563764	chr1:246035632-246035633	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs397952676	chr1:246035633-246035634	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs574940801	chr1:246035649-246035650	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs368608807	chr1:246035650-246035651	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs140860753	chr1:246035651-246035652	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs576986063	chr1:246035683-246035684	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs182983632	chr1:246035702-246035703	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs11321844	chr1:246035706-246035707	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs562631698	chr1:246035713-246035714	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs200635957	chr1:246035732-246035733	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs71585187	chr1:246035733-246035734	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs386641620	chr1:246035737-246035738	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs61830210	chr1:246035738-246035739	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs527349456	chr1:246035751-246035752	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs113205001	chr1:246035791-246035792	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs386641621	chr1:246035792-246035793	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs200823927	chr1:246035793-246035794	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs561570857	chr1:246035795-246035796	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs570552122	chr1:246035797-246035798	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs144897209	chr1:246035802-246035803	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138649738	chr1:246035816-246035817	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	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
Breast cancer	21858162	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
Autism	20841430	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:245991000-246045000	Weak transcription	Spleen	Spleen
2	chr1:245999800-246038400	Weak transcription	Aorta	Aorta
3	chr1:246001800-246056800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:246006800-246041200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:246009600-246038200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr1:246012800-246049600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:246015400-246038200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:246017800-246036400	Weak transcription	Right Ventricle	heart
9	chr1:246019200-246067400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr1:246020200-246036000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr1:246021000-246038200	Weak transcription	Pancreas	Pancrea
12	chr1:246022000-246037800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:246022000-246038200	Weak transcription	Gastric	stomach
14	chr1:246022000-246042600	Weak transcription	Fetal Intestine Small	intestine
15	chr1:246022200-246037800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:246023000-246038200	Weak transcription	Fetal Kidney	kidney
17	chr1:246023600-246037000	Weak transcription	Lung	lung
18	chr1:246023600-246038200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:246023600-246038400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:246024400-246038200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:246024800-246037400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:246024800-246037800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:246025000-246036400	Weak transcription	Fetal Brain Male	brain
24	chr1:246025000-246037000	Weak transcription	Left Ventricle	heart
25	chr1:246025200-246036600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:246025400-246037800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:246027000-246037800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:246027200-246037600	Weak transcription	Primary B cells from peripheral blood	blood
29	chr1:246027200-246041600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr1:246027400-246036600	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr1:246029600-246038200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr1:246030600-246037400	Enhancers	Fetal Heart	heart
33	chr1:246033200-246037600	Strong transcription	K562	blood
34	chr1:246033400-246035000	Weak transcription	Fetal Muscle Leg	muscle
35	chr1:246033400-246035400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr1:246033800-246038000	Weak transcription	Placenta	Placenta
37	chr1:246033800-246038200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:246033800-246039600	Enhancers	NHDF-Ad	bronchial
39	chr1:246034000-246038000	Enhancers	NH-A	brain
40	chr1:246034600-246035200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:246034600-246036600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:246034600-246038000	Enhancers	NHLF	lung
43	chr1:246034600-246039800	Enhancers	Osteobl	bone
44	chr1:246034800-246035000	Enhancers	Brain Germinal Matrix	brain
45	chr1:246034800-246035400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:246034800-246035600	Enhancers	Fetal Lung	lung
47	chr1:246034800-246036000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:246034800-246036000	Enhancers	Fetal Stomach	stomach
49	chr1:246034800-246036800	Strong transcription	Primary T cells from cord blood	blood
50	chr1:246034800-246045600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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