Variant report

Variant	esv3439016
Chromosome Location	chr10:42358254-42359240
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 222 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:222 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62646698	chr10:42358256-42358257	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs200233620	chr10:42358268-42358269	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs562063797	chr10:42358275-42358276	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs201401112	chr10:42358276-42358277	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs199702545	chr10:42358289-42358290	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs200469668	chr10:42358292-42358293	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs575810267	chr10:42358297-42358298	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs62636733	chr10:42358306-42358307	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs11266127	chr10:42358312-42358313	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs10908997	chr10:42358313-42358314	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs564279696	chr10:42358321-42358322	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs370052160	chr10:42358328-42358329	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs62641327	chr10:42358330-42358331	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs62638129	chr10:42358333-42358334	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs61720742	chr10:42358341-42358342	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs533517591	chr10:42358352-42358353	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs374092065	chr10:42358354-42358355	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs370945309	chr10:42358357-42358358	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs61724253	chr10:42358359-42358360	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs377686093	chr10:42358362-42358363	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs375512234	chr10:42358366-42358367	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs62636734	chr10:42358367-42358368	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs373535008	chr10:42358371-42358372	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs59019282	chr10:42358381-42358382	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs377207028	chr10:42358386-42358387	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs201762826	chr10:42358412-42358413	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs111208815	chr10:42358414-42358415	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs200302389	chr10:42358416-42358417	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs374646667	chr10:42358417-42358418	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs376600679	chr10:42358419-42358420	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs200698361	chr10:42358422-42358423	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs201230572	chr10:42358423-42358424	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs374457007	chr10:42358433-42358434	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs376902500	chr10:42358437-42358438	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs560425520	chr10:42358446-42358447	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs201638553	chr10:42358447-42358448	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs374258863	chr10:42358449-42358450	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs370165558	chr10:42358457-42358458	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs140350493	chr10:42358462-42358463	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs529078986	chr10:42358464-42358465	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs200028827	chr10:42358466-42358467	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs62646700	chr10:42358472-42358473	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs374925551	chr10:42358473-42358474	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs373894860	chr10:42358478-42358479	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs549170830	chr10:42358497-42358498	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs569192451	chr10:42358498-42358499	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs537710298	chr10:42358500-42358501	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs368059467	chr10:42358502-42358503	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs551402940	chr10:42358503-42358504	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs62638131	chr10:42358506-42358507	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Autism	20858243	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

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:42354800-42366400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr10:42354800-42367200	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr10:42354800-42367200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
4	chr10:42354800-42367200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
5	chr10:42354800-42367400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr10:42354800-42367400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr10:42354800-42367400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr10:42354800-42367400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
9	chr10:42354800-42368000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr10:42354800-42368000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr10:42355000-42358800	ZNF genes & repeats	Fetal Brain Female	brain
12	chr10:42355000-42359200	ZNF genes & repeats	Brain Germinal Matrix	brain
13	chr10:42355000-42360400	ZNF genes & repeats	NHLF	lung
14	chr10:42355000-42362800	ZNF genes & repeats	Psoas Muscle	Psoas
15	chr10:42355000-42365400	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
16	chr10:42355000-42365400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr10:42355000-42365400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
18	chr10:42355000-42365600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
19	chr10:42355000-42365600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
20	chr10:42355000-42365600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr10:42355000-42365600	ZNF genes & repeats	Primary B cells from cord blood	blood
22	chr10:42355000-42365600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
23	chr10:42355000-42365600	ZNF genes & repeats	Aorta	Aorta
24	chr10:42355000-42365600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
25	chr10:42355000-42365600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
26	chr10:42355000-42365600	ZNF genes & repeats	Stomach Mucosa	stomach
27	chr10:42355000-42365600	ZNF genes & repeats	GM12878-XiMat	blood
28	chr10:42355000-42365600	ZNF genes & repeats	HepG2	liver
29	chr10:42355000-42365600	ZNF genes & repeats	HSMMtube	muscle
30	chr10:42355000-42365600	ZNF genes & repeats	HUVEC	blood vessel
31	chr10:42355000-42365800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
32	chr10:42355000-42365800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
33	chr10:42355000-42365800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr10:42355000-42365800	ZNF genes & repeats	Fetal Heart	heart
35	chr10:42355000-42365800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
36	chr10:42355000-42365800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
37	chr10:42355000-42365800	ZNF genes & repeats	K562	blood
38	chr10:42355000-42365800	ZNF genes & repeats	NH-A	brain
39	chr10:42355000-42366000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr10:42355000-42366000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr10:42355000-42366000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr10:42355000-42366000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
43	chr10:42355000-42366000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
44	chr10:42355000-42366000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
45	chr10:42355000-42366000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
46	chr10:42355000-42366000	ZNF genes & repeats	Brain Angular Gyrus	brain
47	chr10:42355000-42366000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
48	chr10:42355000-42366000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
49	chr10:42355000-42366000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
50	chr10:42355000-42366000	ZNF genes & repeats	Brain Substantia Nigra	brain

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