Variant report

Variant	esv3426722
Chromosome Location	chr10:112837812-112839710
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:112837126..112840004-chr10:112842044..112844644,2	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13306143	chr10:112837863-112837864	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539511086	chr10:112837870-112837871	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1800034	chr10:112837873-112837874	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs111872241	chr10:112837874-112837875	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186847183	chr10:112837919-112837920	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533963725	chr10:112837920-112837921	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376175216	chr10:112837931-112837932	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368175821	chr10:112837958-112837959	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12416313	chr10:112837979-112837980	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544890991	chr10:112837998-112837999	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs33944494	chr10:112838006-112838007	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs375858769	chr10:112838012-112838013	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs367957599	chr10:112838043-112838044	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs138797613	chr10:112838046-112838047	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs372220514	chr10:112838082-112838083	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs374866490	chr10:112838122-112838123	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs142434876	chr10:112838135-112838136	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs201396701	chr10:112838159-112838160	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs369222614	chr10:112838184-112838185	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs373186564	chr10:112838217-112838218	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs146469074	chr10:112838241-112838242	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs138747761	chr10:112838252-112838253	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs199783285	chr10:112838284-112838285	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs540202469	chr10:112838306-112838307	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs561690973	chr10:112838329-112838330	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs200592713	chr10:112838337-112838338	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs377089521	chr10:112838347-112838348	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs370131502	chr10:112838352-112838353	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs550864420	chr10:112838359-112838360	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs372604656	chr10:112838396-112838397	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs200814490	chr10:112838436-112838437	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs200429541	chr10:112838442-112838443	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs149350078	chr10:112838456-112838457	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs375615894	chr10:112838473-112838474	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs375697365	chr10:112838506-112838507	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs566589780	chr10:112838550-112838551	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs1800035	chr10:112838552-112838553	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs112643166	chr10:112838582-112838583	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs548917756	chr10:112838643-112838644	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs567331068	chr10:112838796-112838797	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs538147682	chr10:112838856-112838857	Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs372201152	chr10:112838882-112838883	Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs1800038	chr10:112838892-112838893	Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs370313798	chr10:112838901-112838902	Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs1800036	chr10:112838904-112838905	Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs201475397	chr10:112838909-112838910	Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs566971712	chr10:112838921-112838922	Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs375454021	chr10:112838922-112838923	Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs369392326	chr10:112838948-112838949	Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs373130841	chr10:112838949-112838950	Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
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
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
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	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
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myxofibrosarcoma	16751306	CNVD
Cornelia de Lange syndrome	24599119	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	16397240	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	16616336	CNVD
Chronic lymphocytic leukemia	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Barrett''s syndrome	19417022	CNVD
Sezary syndrome	18413736	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:232 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:112835400-112838000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr10:112835600-112838400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr10:112835600-112838400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
4	chr10:112835600-112838400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
5	chr10:112835600-112839000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr10:112835600-112839000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr10:112835800-112838000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr10:112835800-112838000	Active TSS	HSMM	muscle
9	chr10:112835800-112838200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr10:112835800-112838200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr10:112835800-112838400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr10:112835800-112838400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
13	chr10:112835800-112838400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
14	chr10:112835800-112838400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
15	chr10:112835800-112840400	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr10:112836000-112838000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr10:112836000-112838000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr10:112836000-112838000	Flanking Active TSS	Liver	Liver
19	chr10:112836000-112838000	Bivalent/Poised TSS	Thymus	Thymus
20	chr10:112836000-112838200	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
21	chr10:112836000-112838400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
22	chr10:112836000-112839200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr10:112836200-112838400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
24	chr10:112836400-112838000	Enhancers	Fetal Heart	heart
25	chr10:112836400-112838000	Bivalent Enhancer	Fetal Lung	lung
26	chr10:112836400-112838200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
27	chr10:112836400-112838400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
28	chr10:112836400-112838400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
29	chr10:112836600-112838000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
30	chr10:112836600-112838200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
31	chr10:112836600-112838200	Bivalent Enhancer	Fetal Thymus	thymus
32	chr10:112836800-112838000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
33	chr10:112836800-112838200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
34	chr10:112836800-112838400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
35	chr10:112836800-112839200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
36	chr10:112837000-112838000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr10:112837000-112838000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
38	chr10:112837000-112838000	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr10:112837000-112838200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
40	chr10:112837000-112838200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
41	chr10:112837000-112838200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
42	chr10:112837000-112838400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr10:112837000-112839400	Bivalent/Poised TSS	Fetal Brain Female	brain
44	chr10:112837200-112838000	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr10:112837200-112838400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
46	chr10:112837200-112839600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
47	chr10:112837400-112838000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr10:112837400-112838000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr10:112837400-112838000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr10:112837400-112838200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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