Variant report

Variant	nsv511735
Chromosome Location	chr1:224199853-224201765
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 312 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:312 , 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	rs200116148	chr1:224199854-224199855	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368520703	chr1:224199856-224199857	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370777913	chr1:224199866-224199867	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531612628	chr1:224199867-224199868	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550842144	chr1:224199892-224199893	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111980251	chr1:224199895-224199896	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374401260	chr1:224199897-224199898	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569209009	chr1:224199899-224199900	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12028103	chr1:224199901-224199902	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551572670	chr1:224199905-224199906	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566686703	chr1:224199910-224199911	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200075953	chr1:224199914-224199915	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201357111	chr1:224199917-224199918	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371818516	chr1:224199919-224199920	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376155132	chr1:224199921-224199922	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533840266	chr1:224199964-224199965	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555170439	chr1:224199965-224199966	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573580759	chr1:224199967-224199968	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537487517	chr1:224199975-224199976	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556427188	chr1:224199985-224199986	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs28972720	chr1:224199987-224199988	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75016499	chr1:224199999-224200000	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs202148539	chr1:224200017-224200018	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377065830	chr1:224200023-224200024	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371469815	chr1:224200027-224200028	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572561355	chr1:224200035-224200036	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543061193	chr1:224200036-224200037	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112729796	chr1:224200066-224200067	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111214095	chr1:224200074-224200075	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531715126	chr1:224200076-224200077	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76636217	chr1:224200090-224200091	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550226151	chr1:224200107-224200108	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565299991	chr1:224200109-224200110	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200167375	chr1:224200115-224200116	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200954318	chr1:224200117-224200118	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371392519	chr1:224200132-224200133	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111214044	chr1:224200141-224200142	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533227744	chr1:224200147-224200148	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140895239	chr1:224200149-224200150	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551708670	chr1:224200159-224200160	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373716017	chr1:224200182-224200183	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566611775	chr1:224200183-224200184	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62642846	chr1:224200184-224200185	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111143909	chr1:224200186-224200187	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367755765	chr1:224200194-224200195	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371324504	chr1:224200205-224200206	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200468559	chr1:224200209-224200210	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370062180	chr1:224200210-224200211	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201359727	chr1:224200211-224200212	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148091516	chr1:224200218-224200219	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
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
Cancer	17060936	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224181800-224201800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:224198800-224204200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:224199000-224204400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:224199200-224200600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
5	chr1:224199200-224201200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:224199200-224201200	ZNF genes & repeats	NHDF-Ad	bronchial
7	chr1:224199200-224201400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
8	chr1:224199200-224202600	ZNF genes & repeats	HSMMtube	muscle
9	chr1:224199200-224202800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:224199200-224202800	ZNF genes & repeats	GM12878-XiMat	blood
11	chr1:224199200-224203800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:224199200-224203800	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:224199200-224203800	ZNF genes & repeats	Aorta	Aorta
14	chr1:224199200-224203800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:224199200-224203800	ZNF genes & repeats	K562	blood
16	chr1:224199200-224203800	ZNF genes & repeats	Osteobl	bone
17	chr1:224199200-224204000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:224199200-224204000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:224199200-224204000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:224199200-224204000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
21	chr1:224199200-224204000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
22	chr1:224199200-224204000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
23	chr1:224199200-224204000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:224199200-224204000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
25	chr1:224199200-224204000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr1:224199200-224204000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
27	chr1:224199200-224204000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
28	chr1:224199200-224204000	ZNF genes & repeats	Brain Angular Gyrus	brain
29	chr1:224199200-224204000	ZNF genes & repeats	Brain Anterior Caudate	brain
30	chr1:224199200-224204000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
31	chr1:224199200-224204000	ZNF genes & repeats	Brain Hippocampus Middle	brain
32	chr1:224199200-224204000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
33	chr1:224199200-224204000	ZNF genes & repeats	Brain Substantia Nigra	brain
34	chr1:224199200-224204000	ZNF genes & repeats	Colonic Mucosa	Colon
35	chr1:224199200-224204000	ZNF genes & repeats	Colon Smooth Muscle	Colon
36	chr1:224199200-224204000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
37	chr1:224199200-224204000	ZNF genes & repeats	Fetal Brain Male	brain
38	chr1:224199200-224204000	ZNF genes & repeats	Fetal Heart	heart
39	chr1:224199200-224204000	ZNF genes & repeats	Fetal Kidney	kidney
40	chr1:224199200-224204000	ZNF genes & repeats	Fetal Lung	lung
41	chr1:224199200-224204000	ZNF genes & repeats	Pancreas	Pancrea
42	chr1:224199200-224204000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
43	chr1:224199200-224204000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
44	chr1:224199200-224204000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
45	chr1:224199200-224204000	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
46	chr1:224199200-224204000	ZNF genes & repeats	Stomach Mucosa	stomach
47	chr1:224199200-224204000	ZNF genes & repeats	Spleen	Spleen
48	chr1:224199200-224204000	ZNF genes & repeats	A549	lung
49	chr1:224199200-224204000	ZNF genes & repeats	Dnd41	blood
50	chr1:224199200-224204000	ZNF genes & repeats	HUVEC	blood vessel

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