Variant report

Variant	esv3396299
Chromosome Location	chr10:1281398-1281759
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367920904	chr10:1281406-1281407	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs111828417	chr10:1281409-1281410	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs79045750	chr10:1281413-1281414	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs533091007	chr10:1281419-1281420	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs79680907	chr10:1281433-1281434	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs113348039	chr10:1281436-1281437	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs71494946	chr10:1281438-1281439	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs77255982	chr10:1281457-1281458	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs200948252	chr10:1281460-1281461	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs71376901	chr10:1281471-1281472	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs374207238	chr10:1281473-1281474	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs376666964	chr10:1281481-1281482	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs61832009	chr10:1281484-1281485	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs193086297	chr10:1281485-1281486	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs112070596	chr10:1281497-1281498	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs368837346	chr10:1281508-1281509	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs61832010	chr10:1281509-1281510	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs61832011	chr10:1281521-1281522	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs200342462	chr10:1281529-1281530	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs201424104	chr10:1281532-1281533	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs371550299	chr10:1281545-1281546	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs375248231	chr10:1281553-1281554	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs200805596	chr10:1281555-1281556	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs368256445	chr10:1281556-1281557	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs199797757	chr10:1281557-1281558	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs372807963	chr10:1281569-1281570	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs375973747	chr10:1281577-1281578	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs71494947	chr10:1281580-1281581	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs113321331	chr10:1281581-1281582	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs563971373	chr10:1281599-1281600	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs371746588	chr10:1281601-1281602	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71491352	chr10:1281604-1281605	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs202000809	chr10:1281606-1281607	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112797015	chr10:1281607-1281608	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201204550	chr10:1281610-1281611	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369249805	chr10:1281617-1281618	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111627806	chr10:1281628-1281629	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377340697	chr10:1281641-1281642	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574171275	chr10:1281647-1281648	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139133365	chr10:1281649-1281650	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113116869	chr10:1281652-1281653	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377041468	chr10:1281653-1281654	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs61832012	chr10:1281665-1281666	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145438865	chr10:1281673-1281674	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62634808	chr10:1281676-1281677	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370480706	chr10:1281677-1281678	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62634809	chr10:1281689-1281690	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111988257	chr10:1281697-1281698	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201844564	chr10:1281700-1281701	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113643054	chr10:1281713-1281714	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Autism	22543975	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1273400-1281600	Strong transcription	Primary T cells from cord blood	blood
2	chr10:1274200-1281600	Weak transcription	HSMM	muscle
3	chr10:1277000-1282400	Weak transcription	Primary B cells from cord blood	blood
4	chr10:1279000-1281400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr10:1279400-1282200	Weak transcription	Dnd41	blood
6	chr10:1280400-1282600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr10:1280800-1282000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr10:1280800-1282800	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr10:1281000-1281400	Flanking Active TSS	H9 Cell Line	embryonic stem cell
10	chr10:1281000-1281400	Transcr. at gene 5' and 3'	Brain Angular Gyrus	brain
11	chr10:1281000-1281400	Flanking Active TSS	Brain Cingulate Gyrus	brain
12	chr10:1281000-1281400	Active TSS	Brain Hippocampus Middle	brain
13	chr10:1281000-1281400	ZNF genes & repeats	Gastric	stomach
14	chr10:1281000-1281400	ZNF genes & repeats	Right Atrium	heart
15	chr10:1281000-1281600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
16	chr10:1281000-1281600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
17	chr10:1281000-1281600	Transcr. at gene 5' and 3'	Brain Substantia Nigra	brain
18	chr10:1281000-1281600	ZNF genes & repeats	Spleen	Spleen
19	chr10:1281000-1281800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr10:1281000-1282200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr10:1281000-1282600	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr10:1281000-1282800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr10:1281200-1281400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
24	chr10:1281200-1281400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr10:1281200-1281400	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr10:1281200-1281400	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr10:1281200-1281400	Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr10:1281200-1281400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr10:1281200-1281400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr10:1281200-1281400	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr10:1281200-1281400	Bivalent Enhancer	Fetal Intestine Large	intestine
32	chr10:1281200-1281400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr10:1281200-1281400	Bivalent Enhancer	Placenta	Placenta
34	chr10:1281200-1281400	Bivalent Enhancer	Fetal Stomach	stomach
35	chr10:1281200-1281600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
36	chr10:1281200-1281600	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr10:1281200-1281600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr10:1281200-1281600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
39	chr10:1281200-1281600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr10:1281200-1281600	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
41	chr10:1281200-1281600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
42	chr10:1281200-1281600	Bivalent/Poised TSS	Fetal Kidney	kidney
43	chr10:1281200-1281600	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr10:1281200-1281600	Bivalent Enhancer	A549	lung
45	chr10:1281200-1281800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr10:1281200-1281800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr10:1281200-1281800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr10:1281200-1281800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
49	chr10:1281200-1282000	ZNF genes & repeats	Lung	lung
50	chr10:1281200-1282600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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