Variant report

Variant	esv3387024
Chromosome Location	chr10:474452-476450
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:474901-474980	GM12878	blood:	n/a	n/a
2	CTCF	chr10:474901-474974	GM10266	blood:	n/a	n/a
3	POLR2A	chr10:476244-476407	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:474030..477219-chr10:480752..483760,5	MCF-7	breast:
2	chr10:472869..474856-chr10:476367..478438,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LARP4B-4	chr10:476181-476444	NONHSAT010858

Variant related genes	Relation type
RN7SL754P	TF binding region
ENSG00000239822	chromatin interactions
ENSG00000233021	chromatin interactions

Extended variants
information (count: 108 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529537027	chr10:474455-474456	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs549013622	chr10:474480-474481	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs559326094	chr10:474483-474484	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs193098933	chr10:474484-474485	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs551601781	chr10:474497-474498	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs546293497	chr10:474498-474499	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs78003271	chr10:474510-474511	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs539289200	chr10:474511-474512	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs145301326	chr10:474541-474542	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs570012584	chr10:474599-474600	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs535749054	chr10:474600-474601	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs555657262	chr10:474671-474672	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs147987167	chr10:474711-474712	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs534580751	chr10:474735-474736	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs115997519	chr10:474736-474737	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs184156065	chr10:474762-474763	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs141611439	chr10:474769-474770	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs188358098	chr10:474773-474774	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs150280665	chr10:474785-474786	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs573850664	chr10:474824-474825	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs145544237	chr10:474852-474853	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs200046057	chr10:474853-474854	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs542923744	chr10:474889-474890	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs180871370	chr10:474916-474917	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs528500260	chr10:474919-474920	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs183506031	chr10:474921-474922	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs545369356	chr10:474938-474939	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs547471796	chr10:474959-474960	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs75671481	chr10:474963-474964	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs376787361	chr10:474976-474977	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs550750778	chr10:474983-474984	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs138934032	chr10:474987-474988	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs539414851	chr10:474990-474991	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs79957073	chr10:475002-475003	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs549317817	chr10:475008-475009	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs12263864	chr10:475035-475036	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs534357277	chr10:475044-475045	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs12359901	chr10:475068-475069	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs571304165	chr10:475076-475077	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs537152642	chr10:475117-475118	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs190722837	chr10:475118-475119	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs182219911	chr10:475129-475130	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs71482856	chr10:475137-475138	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs573912812	chr10:475143-475144	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs537469259	chr10:475147-475148	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs542786504	chr10:475152-475153	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs187292035	chr10:475155-475156	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs201237897	chr10:475168-475169	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs191742046	chr10:475177-475178	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs540480160	chr10:475243-475244	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Glioblastoma multiforme	21525872	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21858162	CNVD
Obesity	19966786	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:395800-489400	Weak transcription	Stomach Mucosa	stomach
2	chr10:423600-480200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr10:436600-480200	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr10:436600-521200	Weak transcription	HepG2	liver
5	chr10:443400-497000	Weak transcription	Psoas Muscle	Psoas
6	chr10:445800-498400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr10:453400-485600	Weak transcription	Fetal Kidney	kidney
8	chr10:455000-480200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr10:456000-496600	Weak transcription	Fetal Heart	heart
10	chr10:456200-483200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr10:460400-482200	Weak transcription	Esophagus	oesophagus
12	chr10:463600-489600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr10:465200-483200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr10:465400-474600	Weak transcription	Fetal Brain Male	brain
15	chr10:465400-490200	Weak transcription	Brain Substantia Nigra	brain
16	chr10:466200-475200	Weak transcription	Placenta	Placenta
17	chr10:466200-484600	Weak transcription	Liver	Liver
18	chr10:466200-486000	Weak transcription	Brain Angular Gyrus	brain
19	chr10:466200-500000	Weak transcription	NHDF-Ad	bronchial
20	chr10:466400-482600	Weak transcription	Fetal Intestine Large	intestine
21	chr10:466400-497200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr10:466600-482200	Weak transcription	Fetal Lung	lung
23	chr10:466800-482000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr10:467000-485200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr10:467400-474600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr10:467600-486200	Weak transcription	Osteobl	bone
27	chr10:467600-496600	Weak transcription	Colon Smooth Muscle	Colon
28	chr10:468000-482400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr10:468400-482400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr10:468800-482000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr10:468800-482000	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr10:468800-485000	Weak transcription	Brain Anterior Caudate	brain
33	chr10:468800-485200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr10:468800-490000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr10:468800-496200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr10:469000-476200	Weak transcription	Fetal Muscle Leg	muscle
37	chr10:469000-481400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr10:469000-482000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr10:469000-482000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr10:469000-482200	Weak transcription	Spleen	Spleen
41	chr10:469000-482400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr10:469000-483200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr10:469000-484600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr10:469000-484800	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr10:469200-476200	Weak transcription	Gastric	stomach
46	chr10:469200-479200	Weak transcription	Fetal Intestine Small	intestine
47	chr10:469200-482000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr10:469200-482200	Weak transcription	Brain Germinal Matrix	brain
49	chr10:469200-483000	Weak transcription	Pancreas	Pancrea
50	chr10:469400-482000	Weak transcription	Right Ventricle	heart

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