Variant report

Variant	esv6652
Chromosome Location	chr10:42599270-42599969
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 287 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:287 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145059476	chr10:42599279-42599280	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370678866	chr10:42599281-42599282	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549323663	chr10:42599288-42599289	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569190922	chr10:42599291-42599292	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147568586	chr10:42599305-42599306	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531611225	chr10:42599307-42599308	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551431243	chr10:42599308-42599309	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78304714	chr10:42599332-42599333	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75587887	chr10:42599336-42599337	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79732959	chr10:42599339-42599340	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571455307	chr10:42599341-42599342	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77956088	chr10:42599347-42599348	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79352278	chr10:42599348-42599349	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76015583	chr10:42599356-42599357	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533932604	chr10:42599361-42599362	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554010031	chr10:42599362-42599363	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75251964	chr10:42599363-42599364	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79784013	chr10:42599364-42599365	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78654992	chr10:42599366-42599367	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145486944	chr10:42599367-42599368	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535982215	chr10:42599372-42599373	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556111986	chr10:42599373-42599374	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77559404	chr10:42599383-42599384	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs61848024	chr10:42599387-42599388	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113891376	chr10:42599395-42599396	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575983875	chr10:42599397-42599398	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370560054	chr10:42599404-42599405	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs202200896	chr10:42599412-42599413	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544886891	chr10:42599418-42599419	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77648983	chr10:42599421-42599422	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs80005749	chr10:42599422-42599423	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75441585	chr10:42599423-42599424	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199852456	chr10:42599426-42599427	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558208091	chr10:42599428-42599429	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201845168	chr10:42599434-42599435	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77146921	chr10:42599436-42599437	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577926875	chr10:42599439-42599440	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540382266	chr10:42599442-42599443	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112410389	chr10:42599444-42599445	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560328346	chr10:42599446-42599447	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529330203	chr10:42599447-42599448	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373610766	chr10:42599452-42599453	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371231995	chr10:42599455-42599456	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs61848025	chr10:42599457-42599458	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376840816	chr10:42599460-42599461	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376765818	chr10:42599461-42599462	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531646533	chr10:42599462-42599463	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs61848026	chr10:42599465-42599466	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368540668	chr10:42599480-42599481	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551758487	chr10:42599481-42599482	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Obesity	20622171	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Lung cancer	21569311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:42596600-42600200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:42596600-42600200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:42596600-42600200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
4	chr10:42596600-42600200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
5	chr10:42596600-42600200	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
6	chr10:42596600-42600200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr10:42596600-42600200	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
8	chr10:42596600-42600200	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
9	chr10:42596600-42600200	ZNF genes & repeats	Aorta	Aorta
10	chr10:42596600-42600200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
11	chr10:42596600-42600200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
12	chr10:42596600-42600200	ZNF genes & repeats	Colonic Mucosa	Colon
13	chr10:42596600-42600200	ZNF genes & repeats	Colon Smooth Muscle	Colon
14	chr10:42596600-42600200	ZNF genes & repeats	Placenta	Placenta
15	chr10:42596600-42600200	ZNF genes & repeats	Fetal Stomach	stomach
16	chr10:42596600-42600200	ZNF genes & repeats	Small Intestine	intestine
17	chr10:42596600-42600200	ZNF genes & repeats	Stomach Mucosa	stomach
18	chr10:42596600-42600200	ZNF genes & repeats	Spleen	Spleen
19	chr10:42596600-42600200	ZNF genes & repeats	HSMMtube	muscle
20	chr10:42596600-42600200	ZNF genes & repeats	Osteobl	bone
21	chr10:42596600-42600400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr10:42596600-42600400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr10:42596600-42600400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
24	chr10:42596600-42600400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
25	chr10:42596600-42600400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
26	chr10:42596600-42600400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
27	chr10:42596600-42600400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
28	chr10:42596600-42600400	ZNF genes & repeats	Brain Anterior Caudate	brain
29	chr10:42596600-42600400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
30	chr10:42596600-42600400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
31	chr10:42596600-42600400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
32	chr10:42596600-42600400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
33	chr10:42596600-42600400	ZNF genes & repeats	Stomach Smooth Muscle	stomach
34	chr10:42596600-42600400	ZNF genes & repeats	GM12878-XiMat	blood
35	chr10:42596600-42600400	ZNF genes & repeats	Hela-S3	cervix
36	chr10:42596600-42600400	ZNF genes & repeats	NH-A	brain
37	chr10:42596600-42600600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
38	chr10:42596600-42600600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
39	chr10:42596600-42600600	ZNF genes & repeats	Primary B cells from cord blood	blood
40	chr10:42596600-42600600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
41	chr10:42596600-42600600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
42	chr10:42596600-42600600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
43	chr10:42596600-42600600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr10:42596600-42600600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr10:42596600-42600600	ZNF genes & repeats	Rectal Smooth Muscle	rectum
46	chr10:42596600-42600800	ZNF genes & repeats	HUVEC	blood vessel
47	chr10:42596600-42601400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr10:42596600-42601400	ZNF genes & repeats	HMEC	breast
49	chr10:42596600-42601600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
50	chr10:42596600-42601600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--

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