Variant report

Variant	esv3373310
Chromosome Location	chr10:42359387-42360118
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 174 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:174 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534530524	chr10:42359390-42359391	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200033848	chr10:42359391-42359392	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111208832	chr10:42359392-42359393	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548086742	chr10:42359395-42359396	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62641329	chr10:42359396-42359397	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567932316	chr10:42359401-42359402	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111208833	chr10:42359403-42359404	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536265765	chr10:42359409-42359410	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200220146	chr10:42359410-42359411	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556478358	chr10:42359413-42359414	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576460018	chr10:42359414-42359415	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201516690	chr10:42359416-42359417	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539118211	chr10:42359418-42359419	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558510057	chr10:42359421-42359422	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571896327	chr10:42359426-42359427	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199672609	chr10:42359437-42359438	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540956883	chr10:42359441-42359442	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62638921	chr10:42359448-42359449	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560873902	chr10:42359449-42359450	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574358061	chr10:42359450-42359451	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62646719	chr10:42359455-42359456	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543059793	chr10:42359457-42359458	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201546253	chr10:42359463-42359464	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532156038	chr10:42359471-42359472	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199577937	chr10:42359472-42359473	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200567250	chr10:42359487-42359488	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376146557	chr10:42359497-42359498	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552241694	chr10:42359502-42359503	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62638922	chr10:42359508-42359509	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146602895	chr10:42359511-42359512	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62641330	chr10:42359520-42359521	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527908423	chr10:42359522-42359523	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547975540	chr10:42359525-42359526	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567969225	chr10:42359527-42359528	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530369858	chr10:42359535-42359536	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201846322	chr10:42359537-42359538	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570021426	chr10:42359538-42359539	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538792827	chr10:42359550-42359551	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558608042	chr10:42359556-42359557	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565811192	chr10:42359558-42359559	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62646720	chr10:42359560-42359561	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189122134	chr10:42359562-42359563	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534527801	chr10:42359566-42359567	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554302793	chr10:42359570-42359571	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543699288	chr10:42359575-42359576	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62646721	chr10:42359576-42359577	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556724578	chr10:42359579-42359580	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62646722	chr10:42359581-42359582	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199879300	chr10:42359582-42359583	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545453446	chr10:42359585-42359586	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	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:89 , 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	chr10:42355000-42360400	ZNF genes & repeats	NHLF	lung
12	chr10:42355000-42362800	ZNF genes & repeats	Psoas Muscle	Psoas
13	chr10:42355000-42365400	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
14	chr10:42355000-42365400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr10:42355000-42365400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
16	chr10:42355000-42365600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
17	chr10:42355000-42365600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
18	chr10:42355000-42365600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr10:42355000-42365600	ZNF genes & repeats	Primary B cells from cord blood	blood
20	chr10:42355000-42365600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
21	chr10:42355000-42365600	ZNF genes & repeats	Aorta	Aorta
22	chr10:42355000-42365600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
23	chr10:42355000-42365600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
24	chr10:42355000-42365600	ZNF genes & repeats	Stomach Mucosa	stomach
25	chr10:42355000-42365600	ZNF genes & repeats	GM12878-XiMat	blood
26	chr10:42355000-42365600	ZNF genes & repeats	HepG2	liver
27	chr10:42355000-42365600	ZNF genes & repeats	HSMMtube	muscle
28	chr10:42355000-42365600	ZNF genes & repeats	HUVEC	blood vessel
29	chr10:42355000-42365800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
30	chr10:42355000-42365800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
31	chr10:42355000-42365800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr10:42355000-42365800	ZNF genes & repeats	Fetal Heart	heart
33	chr10:42355000-42365800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
34	chr10:42355000-42365800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
35	chr10:42355000-42365800	ZNF genes & repeats	K562	blood
36	chr10:42355000-42365800	ZNF genes & repeats	NH-A	brain
37	chr10:42355000-42366000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr10:42355000-42366000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr10:42355000-42366000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr10:42355000-42366000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
41	chr10:42355000-42366000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
42	chr10:42355000-42366000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
43	chr10:42355000-42366000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
44	chr10:42355000-42366000	ZNF genes & repeats	Brain Angular Gyrus	brain
45	chr10:42355000-42366000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
46	chr10:42355000-42366000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
47	chr10:42355000-42366000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
48	chr10:42355000-42366000	ZNF genes & repeats	Brain Substantia Nigra	brain
49	chr10:42355000-42366000	ZNF genes & repeats	Colon Smooth Muscle	Colon
50	chr10:42355000-42366000	ZNF genes & repeats	Pancreas	Pancrea

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