Variant report

Variant	esv3346045
Chromosome Location	chr1:246048030-246057611
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	chr1:246045213..246048314-chr1:246048887..246051390,3	K562	blood:
2	chr1:246042188..246045452-chr1:246045602..246048464,3	K562	blood:
3	chr1:246050469..246052522-chr1:246064028..246067020,2	K562	blood:
4	chr1:246053925..246056156-chr1:246060360..246064629,3	MCF-7	breast:
5	chr1:246051737..246052708-chr1:246165978..246167068,4	MCF-7	breast:
6	chr1:246045213..246048314-chr1:246048887..246051390,3	K562	blood:
7	chr1:246052212..246052783-chr1:246166153..246166798,3	K562	blood:
8	chr1:246057307..246059352-chr1:246513090..246515764,2	K562	blood:

No data

Extended variants
information (count: 448 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:448 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11582561	chr1:246048041-246048042	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546462494	chr1:246048053-246048054	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139072943	chr1:246048054-246048055	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12748838	chr1:246048055-246048056	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188215218	chr1:246048057-246048058	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34210654	chr1:246048058-246048059	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs12749150	chr1:246048066-246048067	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541364023	chr1:246048072-246048073	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527710858	chr1:246048087-246048088	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374911060	chr1:246048091-246048092	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs60714829	chr1:246048093-246048094	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs67269567	chr1:246048094-246048095	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144180750	chr1:246048097-246048098	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74163089	chr1:246048120-246048121	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113674369	chr1:246048121-246048122	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201506643	chr1:246048129-246048130	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113973998	chr1:246048131-246048132	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544832604	chr1:246048142-246048143	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147814356	chr1:246048158-246048159	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566450565	chr1:246048209-246048210	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11578736	chr1:246048222-246048223	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs11586340	chr1:246048235-246048236	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs569890207	chr1:246048248-246048249	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535400558	chr1:246048288-246048289	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs193158385	chr1:246048318-246048319	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565519461	chr1:246048331-246048332	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2362262	chr1:246048332-246048333	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs561772099	chr1:246048362-246048363	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112087542	chr1:246048363-246048364	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2362261	chr1:246048367-246048368	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs72494102	chr1:246048382-246048383	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs386641624	chr1:246048401-246048402	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113808186	chr1:246048402-246048403	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2362259	chr1:246048403-246048404	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs529266964	chr1:246048404-246048405	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187242719	chr1:246048405-246048406	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149208244	chr1:246048444-246048445	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573023358	chr1:246048445-246048446	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191897396	chr1:246048454-246048455	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78937250	chr1:246048456-246048457	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183712664	chr1:246048479-246048480	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75026524	chr1:246048482-246048483	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549530321	chr1:246048483-246048484	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569773303	chr1:246048523-246048524	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529113950	chr1:246048536-246048537	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189635042	chr1:246048539-246048540	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566006930	chr1:246048604-246048605	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138940293	chr1:246048616-246048617	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112868577	chr1:246048631-246048632	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145332041	chr1:246048632-246048633	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246001800-246056800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:246012800-246049600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:246019200-246067400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr1:246036800-246057800	Weak transcription	Primary T cells from cord blood	blood
5	chr1:246038800-246052000	Weak transcription	Aorta	Aorta
6	chr1:246038800-246068200	Weak transcription	Gastric	stomach
7	chr1:246039200-246080000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:246040600-246057800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:246042200-246048800	Weak transcription	Brain Germinal Matrix	brain
10	chr1:246045000-246052000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:246045200-246095600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:246045400-246049000	Weak transcription	Lung	lung
13	chr1:246045400-246052000	Weak transcription	Osteobl	bone
14	chr1:246045400-246054800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:246045600-246049200	Weak transcription	Placenta	Placenta
16	chr1:246045800-246058200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:246046400-246052600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:246047400-246056800	Strong transcription	K562	blood
19	chr1:246047600-246048800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:246047800-246057600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr1:246048800-246050000	Enhancers	Brain Germinal Matrix	brain
22	chr1:246048800-246055800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:246049400-246050400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr1:246049600-246049800	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr1:246050600-246056400	Weak transcription	Dnd41	blood
26	chr1:246051000-246052000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:246051200-246057800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:246052000-246052200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:246052000-246052600	Enhancers	HepG2	liver
30	chr1:246052000-246052600	Enhancers	Osteobl	bone
31	chr1:246052200-246053600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:246052600-246056600	Weak transcription	Osteobl	bone
33	chr1:246052800-246054800	Weak transcription	Aorta	Aorta
34	chr1:246054800-246055000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:246054800-246055400	ZNF genes & repeats	Aorta	Aorta
36	chr1:246055000-246055600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:246055000-246057600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:246055400-246077600	Weak transcription	Primary B cells from cord blood	blood
39	chr1:246055800-246057600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:246056600-246057000	ZNF genes & repeats	Osteobl	bone
41	chr1:246056600-246089200	Weak transcription	Ovary	ovary
42	chr1:246056800-246058400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
43	chr1:246056800-246059200	ZNF genes & repeats	K562	blood
44	chr1:246057000-246057200	Strong transcription	Osteobl	bone
45	chr1:246057000-246059200	Weak transcription	Thymus	Thymus
46	chr1:246057000-246059600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr1:246057200-246057400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:246057200-246057800	Weak transcription	Osteobl	bone
49	chr1:246057400-246058000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:246057600-246058000	Weak transcription	Pancreas	Pancrea

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