Variant report

Variant	esv275081
Chromosome Location	chr10:43996713-44018932
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:44004221-44004260	HepG2	liver:	n/a	chr10:44004244-44004255
2	CTCF	chr10:44002500-44002650	MCF-7	breast:	n/a	chr10:44002583-44002596
3	CTCF	chr10:44013840-44013990	Caco-2	colon:	n/a	n/a
4	FOXA1	chr10:43996204-43996773	T-47D	breast:	n/a	n/a
5	GATA3	chr10:43996141-43996787	T-47D	breast:	n/a	n/a
6	NFYA	chr10:44016547-44016669	GM12878	blood:	n/a	n/a
7	POLR2A	chr10:44016967-44017167	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr10:44011739-44011832	GM12878	blood:	n/a	n/a
9	POLR2A	chr10:44016232-44016298	ProgFib	skin:	n/a	n/a
10	POLR2A	chr10:44000532-44000579	MCF-7	breast:	n/a	n/a
11	RFX5	chr10:44018573-44018583	K562	blood:	n/a	n/a
12	SETDB1	chr10:44018233-44021472	K562	blood:	n/a	n/a
13	SPI1	chr10:44007636-44007842	K562	blood:	n/a	n/a
14	USF1	chr10:44006187-44006294	GM12878	blood:	n/a	n/a
15	ZNF274	chr10:44015616-44022534	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:44012452..44015448-chr10:44015913..44019917,3	MCF-7	breast:
2	chr10:44015456..44018280-chr10:44141593..44143815,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF487P-5	chr10:44018704-44020665	NONHSAT012972

No data

Variant related genes	Relation type
ENSG00000236114	TF binding region
ENSG00000169740	chromatin interactions
ENSG00000236114	chromatin interactions

Extended variants
information (count: 609 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:609 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542297774	chr10:43996769-43996770	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75024543	chr10:43996797-43996798	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561368618	chr10:43996821-43996822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542700655	chr10:43996907-43996908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs202175851	chr10:43996940-43996941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572623906	chr10:43996956-43996957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539794397	chr10:43996962-43996963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558065610	chr10:43996986-43996987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564909257	chr10:43996990-43996991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532298998	chr10:43997008-43997009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189906781	chr10:43997009-43997010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562652983	chr10:43997025-43997026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545418661	chr10:43997060-43997061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200518376	chr10:43997061-43997062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138298105	chr10:43997063-43997064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2393952	chr10:43997064-43997065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2393951	chr10:43997065-43997066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376348289	chr10:43997066-43997067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548421996	chr10:43997179-43997180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566944034	chr10:43997197-43997198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7478156	chr10:43997198-43997199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7476033	chr10:43997205-43997206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577752307	chr10:43997211-43997212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552279413	chr10:43997213-43997214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570870935	chr10:43997217-43997218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563673760	chr10:43997236-43997237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71016781	chr10:43997237-43997238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs398075113	chr10:43997245-43997246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs397793010	chr10:43997246-43997247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375848679	chr10:43997247-43997248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538133565	chr10:43997258-43997259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113246190	chr10:43997266-43997267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181202338	chr10:43997293-43997294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535623912	chr10:43997303-43997304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540467382	chr10:43997305-43997306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572560258	chr10:43997328-43997329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116991619	chr10:43997368-43997369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531019269	chr10:43997400-43997401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549339516	chr10:43997401-43997402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545018891	chr10:43997416-43997417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576801595	chr10:43997434-43997435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571421630	chr10:43997436-43997437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544165358	chr10:43997445-43997446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10751319	chr10:43997506-43997507	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs530039871	chr10:43997511-43997512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541999265	chr10:43997531-43997532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560398816	chr10:43997545-43997546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527965646	chr10:43997549-43997550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527780578	chr10:43997566-43997567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142826372	chr10:43997601-43997602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
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
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	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
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	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
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43987400-44003200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr10:43994600-44002200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr10:43995200-43997600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr10:43996400-43996800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr10:43996400-44002400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr10:43998000-44005000	Weak transcription	Brain Hippocampus Middle	brain
7	chr10:43999400-43999600	ZNF genes & repeats	Brain Angular Gyrus	brain
8	chr10:43999600-44000000	Weak transcription	Brain Angular Gyrus	brain
9	chr10:44000400-44002800	Weak transcription	Ovary	ovary
10	chr10:44002000-44002400	Enhancers	Fetal Heart	heart
11	chr10:44002200-44003000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
12	chr10:44002400-44002800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
13	chr10:44002800-44003200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr10:44012800-44021800	ZNF genes & repeats	Liver	Liver
15	chr10:44013000-44022600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr10:44016200-44021600	ZNF genes & repeats	Adipose Nuclei	Adipose
17	chr10:44018400-44020800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum

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