Variant report

Variant	esv2516054
Chromosome Location	chr10:6097021-6098388
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	chr10:6092360..6095172-chr10:6096702..6099440,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543478291	chr10:6097103-6097104	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs79196724	chr10:6097140-6097141	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs533305541	chr10:6097143-6097144	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs2256774	chr10:6097165-6097166	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs566622031	chr10:6097171-6097172	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs115309327	chr10:6097182-6097183	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs373798884	chr10:6097217-6097218	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12722495	chr10:6097283-6097284	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
9	rs567285226	chr10:6097302-6097303	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189768639	chr10:6097328-6097329	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114032829	chr10:6097373-6097374	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371853522	chr10:6097380-6097381	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573415550	chr10:6097404-6097405	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs180856086	chr10:6097438-6097439	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113316230	chr10:6097473-6097474	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571602292	chr10:6097595-6097596	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535880719	chr10:6097626-6097627	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs367915952	chr10:6097629-6097630	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371647125	chr10:6097663-6097664	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538896002	chr10:6097675-6097676	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554063436	chr10:6097676-6097677	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572269725	chr10:6097695-6097696	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374995761	chr10:6097760-6097761	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570963738	chr10:6097790-6097791	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542885654	chr10:6097796-6097797	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555023329	chr10:6097798-6097799	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376281583	chr10:6097868-6097869	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs80325276	chr10:6097902-6097903	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs576506879	chr10:6097909-6097910	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs78817272	chr10:6097917-6097918	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs539719284	chr10:6097950-6097951	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs565238212	chr10:6097990-6097991	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs145330123	chr10:6098060-6098061	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs545296222	chr10:6098079-6098080	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs377295982	chr10:6098130-6098131	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs184485650	chr10:6098147-6098148	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs548935309	chr10:6098148-6098149	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs12722494	chr10:6098177-6098178	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs534115191	chr10:6098242-6098243	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs552696003	chr10:6098251-6098252	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs531349516	chr10:6098254-6098255	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
42	rs78728445	chr10:6098274-6098275	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	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
Breast cancer	17133270	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Ovarian cancer	22355333	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6093400-6097200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr10:6093400-6101000	Weak transcription	Psoas Muscle	Psoas
3	chr10:6093400-6102800	Enhancers	Primary B cells from peripheral blood	blood
4	chr10:6093800-6104200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
5	chr10:6094000-6097400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
6	chr10:6094200-6097200	Enhancers	Spleen	Spleen
7	chr10:6094800-6097200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr10:6095000-6097200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr10:6095200-6098400	Weak transcription	Left Ventricle	heart
10	chr10:6095400-6097400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr10:6095800-6097200	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
12	chr10:6096000-6097200	Enhancers	Lung	lung
13	chr10:6096000-6097400	Enhancers	GM12878-XiMat	blood
14	chr10:6096200-6098600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr10:6096200-6098800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr10:6096200-6102000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr10:6096200-6107400	Weak transcription	Placenta	Placenta
18	chr10:6096400-6100200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr10:6096400-6100400	Weak transcription	Primary T cells from cord blood	blood
20	chr10:6096400-6102800	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr10:6096400-6103800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr10:6096600-6098400	Weak transcription	Right Atrium	heart
23	chr10:6096600-6098600	Weak transcription	Primary B cells from cord blood	blood
24	chr10:6096600-6098600	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr10:6096600-6100600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr10:6096600-6103600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr10:6096800-6097200	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr10:6096800-6097200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr10:6096800-6098000	Weak transcription	Adipose Nuclei	Adipose
30	chr10:6096800-6098600	Weak transcription	Small Intestine	intestine
31	chr10:6096800-6099600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr10:6097000-6098200	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr10:6097200-6097800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr10:6097200-6098000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr10:6097200-6098000	Weak transcription	Spleen	Spleen
36	chr10:6097200-6098800	Weak transcription	Lung	lung
37	chr10:6097200-6100200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr10:6097200-6102200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr10:6097400-6097800	Weak transcription	GM12878-XiMat	blood
40	chr10:6097400-6098000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr10:6097400-6098400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr10:6097800-6098200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr10:6097800-6099400	Enhancers	GM12878-XiMat	blood
44	chr10:6097800-6102200	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
45	chr10:6098000-6098200	Enhancers	Adipose Nuclei	Adipose
46	chr10:6098000-6098200	Enhancers	Spleen	Spleen
47	chr10:6098000-6098400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr10:6098000-6104400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
49	chr10:6098200-6098600	Weak transcription	Adipose Nuclei	Adipose
50	chr10:6098200-6098800	Weak transcription	Spleen	Spleen

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