Variant report

Variant	esv3452808
Chromosome Location	chr10:25276796-25278244
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:25277210..25278984-chr10:25279762..25281866,2	K562	blood:
2	chr10:25012272..25014940-chr10:25274213..25277169,2	MCF-7	breast:
3	chr10:25011866..25014535-chr10:25277806..25280414,2	K562	blood:
4	chr10:25241921..25243506-chr10:25276442..25278938,2	K562	blood:
5	chr10:25246877..25249016-chr10:25275912..25277898,2	K562	blood:

Variant related genes	Relation type
ENSG00000107863	chromatin interactions
ENSG00000273107	chromatin interactions

Extended variants
information (count: 52 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144873083	chr10:25276888-25276889	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs527245641	chr10:25276892-25276893	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs113010175	chr10:25276977-25276978	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs570514212	chr10:25276979-25276980	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs186931276	chr10:25276987-25276988	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs192800454	chr10:25277006-25277007	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs536516874	chr10:25277014-25277015	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs113448345	chr10:25277030-25277031	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs535365420	chr10:25277105-25277106	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs554982686	chr10:25277179-25277180	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs71399944	chr10:25277180-25277181	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs568133371	chr10:25277181-25277182	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs533907899	chr10:25277185-25277186	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs530204761	chr10:25277202-25277203	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs71495409	chr10:25277206-25277207	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs74587852	chr10:25277208-25277209	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs553853587	chr10:25277223-25277224	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs551356092	chr10:25277266-25277267	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs547147476	chr10:25277290-25277291	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs4556443	chr10:25277315-25277316	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs556420343	chr10:25277330-25277331	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs546422395	chr10:25277340-25277341	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs558822094	chr10:25277362-25277363	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs556457241	chr10:25277363-25277364	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs138774898	chr10:25277412-25277413	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs114907279	chr10:25277456-25277457	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs562378741	chr10:25277469-25277470	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs145632122	chr10:25277594-25277595	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs201511307	chr10:25277595-25277596	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs28610506	chr10:25277629-25277630	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs367758027	chr10:25277634-25277635	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs202105235	chr10:25277636-25277637	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs11014336	chr10:25277641-25277642	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs184437697	chr10:25277656-25277657	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs189210581	chr10:25277712-25277713	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs182208165	chr10:25277715-25277716	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs184972404	chr10:25277786-25277787	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs140333215	chr10:25277787-25277788	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs374739132	chr10:25277834-25277835	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs547125798	chr10:25277835-25277836	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs73608207	chr10:25277891-25277892	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs143535378	chr10:25277894-25277895	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs529053657	chr10:25277916-25277917	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs10764515	chr10:25277917-25277918	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs565594491	chr10:25277925-25277926	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs533943733	chr10:25277968-25277969	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs553745170	chr10:25278009-25278010	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs115061550	chr10:25278050-25278051	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs556094418	chr10:25278052-25278053	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs189599000	chr10:25278065-25278066	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:42)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Autism	21439084	CNVD
Maculopathy	20981449	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:25264400-25277600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr10:25264400-25277800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr10:25264400-25281800	Weak transcription	Fetal Intestine Small	intestine
4	chr10:25264600-25292200	Weak transcription	Ovary	ovary
5	chr10:25269200-25277800	Weak transcription	Brain Angular Gyrus	brain
6	chr10:25271200-25277800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr10:25272400-25277800	Weak transcription	Gastric	stomach
8	chr10:25272400-25281000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr10:25274200-25278200	Weak transcription	A549	lung
10	chr10:25274400-25277800	Weak transcription	Adipose Nuclei	Adipose
11	chr10:25275400-25278400	Enhancers	Brain Hippocampus Middle	brain
12	chr10:25276000-25277200	Enhancers	Brain Anterior Caudate	brain
13	chr10:25276000-25277200	Enhancers	Brain Substantia Nigra	brain
14	chr10:25276600-25276800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr10:25276600-25276800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr10:25276600-25276800	Enhancers	Hela-S3	cervix
17	chr10:25276600-25277000	Enhancers	Stomach Mucosa	stomach
18	chr10:25276600-25277800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr10:25276600-25280400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr10:25276800-25277800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr10:25276800-25277800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr10:25277000-25278200	Weak transcription	Hela-S3	cervix
23	chr10:25277200-25277600	Weak transcription	Brain Anterior Caudate	brain
24	chr10:25277200-25277600	Weak transcription	Brain Substantia Nigra	brain
25	chr10:25277400-25278400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr10:25277400-25278600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr10:25277600-25277800	Enhancers	K562	blood
28	chr10:25277600-25278400	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr10:25277600-25278400	Enhancers	Brain Anterior Caudate	brain
30	chr10:25277600-25278400	Enhancers	Brain Cingulate Gyrus	brain
31	chr10:25277600-25278400	Enhancers	Brain Substantia Nigra	brain
32	chr10:25277600-25278600	Enhancers	Fetal Brain Male	brain
33	chr10:25277800-25278000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr10:25277800-25278000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr10:25277800-25278000	Enhancers	Fetal Muscle Trunk	muscle
36	chr10:25277800-25278200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr10:25277800-25278400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr10:25277800-25278400	Enhancers	Brain Angular Gyrus	brain
39	chr10:25277800-25278400	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr10:25277800-25278400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr10:25277800-25278400	Enhancers	Fetal Thymus	thymus
42	chr10:25277800-25278400	Enhancers	Gastric	stomach
43	chr10:25277800-25278400	Enhancers	Left Ventricle	heart
44	chr10:25277800-25278400	Enhancers	Pancreas	Pancrea
45	chr10:25277800-25278400	Enhancers	Right Atrium	heart
46	chr10:25277800-25278400	Enhancers	Spleen	Spleen
47	chr10:25277800-25278400	Enhancers	HUVEC	blood vessel
48	chr10:25277800-25278400	Flanking Active TSS	K562	blood
49	chr10:25277800-25278600	Enhancers	Fetal Brain Female	brain
50	chr10:25277800-25279200	Enhancers	Adipose Nuclei	Adipose

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