Variant report

Variant	esv3424055
Chromosome Location	chr1:246783438-246784197
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	chr1:246779828..246782694-chr1:246783827..246786516,2	K562	blood:

Extended variants
information (count: 93 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369891026	chr1:246783438-246783439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372046817	chr1:246783448-246783449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571693363	chr1:246783465-246783466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373423171	chr1:246783472-246783473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112528768	chr1:246783474-246783475	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112458787	chr1:246783482-246783483	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556188028	chr1:246783489-246783490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75216801	chr1:246783492-246783493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79720067	chr1:246783502-246783503	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200604950	chr1:246783505-246783506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376833670	chr1:246783526-246783527	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111662256	chr1:246783528-246783529	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112628370	chr1:246783530-246783531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112543374	chr1:246783536-246783537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369956735	chr1:246783556-246783557	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373161522	chr1:246783560-246783561	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113226628	chr1:246783575-246783576	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112704772	chr1:246783590-246783591	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12725156	chr1:246783600-246783601	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12724772	chr1:246783610-246783611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530948733	chr1:246783654-246783655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373993628	chr1:246783662-246783663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375807697	chr1:246783666-246783667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112236750	chr1:246783677-246783678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111597641	chr1:246783680-246783681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112204400	chr1:246783681-246783682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112449725	chr1:246783691-246783692	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377461017	chr1:246783696-246783697	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113745851	chr1:246783708-246783709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377664990	chr1:246783720-246783721	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550948615	chr1:246783721-246783722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112431233	chr1:246783731-246783732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111897107	chr1:246783734-246783735	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567554444	chr1:246783735-246783736	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545043237	chr1:246783741-246783742	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs60896679	chr1:246783750-246783751	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113055072	chr1:246783760-246783761	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111866299	chr1:246783770-246783771	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536099844	chr1:246783780-246783781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370528664	chr1:246783794-246783795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12729122	chr1:246783796-246783797	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552863492	chr1:246783797-246783798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34473780	chr1:246783798-246783799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112728954	chr1:246783804-246783805	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12139873	chr1:246783824-246783825	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111604489	chr1:246783827-246783828	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566300827	chr1:246783840-246783841	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112036796	chr1:246783841-246783842	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72056399	chr1:246783848-246783849	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71638362	chr1:246783849-246783850	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Ovarian clear cell carcinoma	21343371	CNVD
Oral cancer	21386901	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246739000-246806200	Weak transcription	Aorta	Aorta
2	chr1:246755400-246832800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:246764200-246784200	Weak transcription	Thymus	Thymus
4	chr1:246766200-246784200	Weak transcription	Dnd41	blood
5	chr1:246771400-246784600	Weak transcription	Fetal Stomach	stomach
6	chr1:246772200-246795600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:246772400-246784600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:246772600-246784000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:246772600-246784000	Weak transcription	Liver	Liver
10	chr1:246772600-246784000	Weak transcription	GM12878-XiMat	blood
11	chr1:246772600-246784800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:246772600-246784800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:246772600-246790600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:246772600-246795600	Weak transcription	HepG2	liver
15	chr1:246772800-246783800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:246772800-246783800	Weak transcription	Fetal Intestine Small	intestine
17	chr1:246772800-246784000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr1:246772800-246784000	Weak transcription	Spleen	Spleen
19	chr1:246772800-246789200	Weak transcription	Ovary	ovary
20	chr1:246773000-246784800	Weak transcription	Fetal Muscle Leg	muscle
21	chr1:246773000-246784800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:246773000-246790200	Weak transcription	Small Intestine	intestine
23	chr1:246773000-246790200	Weak transcription	HSMM	muscle
24	chr1:246773000-246792400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:246773200-246799000	Weak transcription	Fetal Lung	lung
26	chr1:246773400-246784400	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr1:246773400-246785000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:246773600-246795400	Weak transcription	Placenta	Placenta
29	chr1:246773800-246784600	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr1:246773800-246795800	Weak transcription	Hela-S3	cervix
31	chr1:246774000-246792600	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr1:246774400-246785600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr1:246774600-246800400	Weak transcription	Pancreas	Pancrea
34	chr1:246774800-246795600	Weak transcription	Brain Substantia Nigra	brain
35	chr1:246776000-246790000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr1:246776200-246784000	Weak transcription	Lung	lung
37	chr1:246776400-246790400	Weak transcription	Brain Hippocampus Middle	brain
38	chr1:246776600-246784200	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr1:246776600-246790600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr1:246776600-246794000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr1:246776800-246784400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr1:246776800-246785400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr1:246776800-246786800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr1:246776800-246790200	Weak transcription	Brain Angular Gyrus	brain
45	chr1:246776800-246795600	Weak transcription	HUVEC	blood vessel
46	chr1:246777000-246796000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:246777000-246799800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:246777000-246802000	Weak transcription	NHEK	skin
49	chr1:246777400-246784000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr1:246778600-246784000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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