Variant report

Variant	esv6246
Chromosome Location	chr1:224200966-224203777
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 438 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:438 , 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	rs149715549	chr1:224200972-224200973	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147669923	chr1:224200988-224200989	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12068449	chr1:224200994-224200995	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142392186	chr1:224200995-224200996	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111205820	chr1:224200999-224201000	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146200301	chr1:224201012-224201013	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12075709	chr1:224201016-224201017	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148695317	chr1:224201017-224201018	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200901197	chr1:224201019-224201020	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374394105	chr1:224201029-224201030	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201278254	chr1:224201034-224201035	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375784738	chr1:224201041-224201042	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199630344	chr1:224201044-224201045	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111205821	chr1:224201047-224201048	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111205822	chr1:224201060-224201061	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537680318	chr1:224201077-224201078	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139126003	chr1:224201078-224201079	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144601421	chr1:224201083-224201084	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143792703	chr1:224201084-224201085	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62651634	chr1:224201085-224201086	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145393029	chr1:224201097-224201098	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559080841	chr1:224201108-224201109	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138357469	chr1:224201122-224201123	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373035798	chr1:224201126-224201127	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541563270	chr1:224201127-224201128	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147281990	chr1:224201128-224201129	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553060432	chr1:224201130-224201131	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542511077	chr1:224201133-224201134	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs151248844	chr1:224201135-224201136	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145118141	chr1:224201141-224201142	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143059536	chr1:224201148-224201149	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561284390	chr1:224201151-224201152	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143694530	chr1:224201158-224201159	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143119636	chr1:224201163-224201164	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76804107	chr1:224201168-224201169	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140193631	chr1:224201192-224201193	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543240560	chr1:224201194-224201195	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150126593	chr1:224201198-224201199	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111205823	chr1:224201210-224201211	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12127458	chr1:224201212-224201213	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564757901	chr1:224201213-224201214	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138866706	chr1:224201222-224201223	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149581644	chr1:224201223-224201224	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146393052	chr1:224201232-224201233	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200118685	chr1:224201248-224201249	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138781240	chr1:224201252-224201253	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140217838	chr1:224201253-224201254	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370416690	chr1:224201255-224201256	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62644761	chr1:224201256-224201257	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532044814	chr1:224201270-224201271	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:95 , 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	chr1:224199200-224201200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:224199200-224201200	ZNF genes & repeats	NHDF-Ad	bronchial
6	chr1:224199200-224201400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
7	chr1:224199200-224202600	ZNF genes & repeats	HSMMtube	muscle
8	chr1:224199200-224202800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:224199200-224202800	ZNF genes & repeats	GM12878-XiMat	blood
10	chr1:224199200-224203800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:224199200-224203800	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
12	chr1:224199200-224203800	ZNF genes & repeats	Aorta	Aorta
13	chr1:224199200-224203800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:224199200-224203800	ZNF genes & repeats	K562	blood
15	chr1:224199200-224203800	ZNF genes & repeats	Osteobl	bone
16	chr1:224199200-224204000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:224199200-224204000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:224199200-224204000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:224199200-224204000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
20	chr1:224199200-224204000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
21	chr1:224199200-224204000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
22	chr1:224199200-224204000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:224199200-224204000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
24	chr1:224199200-224204000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:224199200-224204000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
26	chr1:224199200-224204000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
27	chr1:224199200-224204000	ZNF genes & repeats	Brain Angular Gyrus	brain
28	chr1:224199200-224204000	ZNF genes & repeats	Brain Anterior Caudate	brain
29	chr1:224199200-224204000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
30	chr1:224199200-224204000	ZNF genes & repeats	Brain Hippocampus Middle	brain
31	chr1:224199200-224204000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
32	chr1:224199200-224204000	ZNF genes & repeats	Brain Substantia Nigra	brain
33	chr1:224199200-224204000	ZNF genes & repeats	Colonic Mucosa	Colon
34	chr1:224199200-224204000	ZNF genes & repeats	Colon Smooth Muscle	Colon
35	chr1:224199200-224204000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
36	chr1:224199200-224204000	ZNF genes & repeats	Fetal Brain Male	brain
37	chr1:224199200-224204000	ZNF genes & repeats	Fetal Heart	heart
38	chr1:224199200-224204000	ZNF genes & repeats	Fetal Kidney	kidney
39	chr1:224199200-224204000	ZNF genes & repeats	Fetal Lung	lung
40	chr1:224199200-224204000	ZNF genes & repeats	Pancreas	Pancrea
41	chr1:224199200-224204000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
42	chr1:224199200-224204000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
43	chr1:224199200-224204000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
44	chr1:224199200-224204000	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
45	chr1:224199200-224204000	ZNF genes & repeats	Stomach Mucosa	stomach
46	chr1:224199200-224204000	ZNF genes & repeats	Spleen	Spleen
47	chr1:224199200-224204000	ZNF genes & repeats	A549	lung
48	chr1:224199200-224204000	ZNF genes & repeats	Dnd41	blood
49	chr1:224199200-224204000	ZNF genes & repeats	HUVEC	blood vessel
50	chr1:224199200-224204200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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