Variant report

Variant	esv1810701
Chromosome Location	chr10:37808117-37823398
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:83)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:83 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr10:37814530-37814563	HepG2	liver:	n/a	n/a
2	CEBPB	chr10:37809502-37809677	MCF-7	breast:	n/a	chr10:37809549-37809562
3	CTCF	chr10:37814460-37814592	Spleen_OC	spleen:	n/a	n/a
4	CTCF	chr10:37814417-37814593	GM13977	blood:	n/a	n/a
5	CTCF	chr10:37814420-37814570	A549	lung:	n/a	n/a
6	CTCF	chr10:37810611-37810682	Kidney_OC	kidney:	n/a	n/a
7	CTCF	chr10:37814280-37814430	HCT-116	colon:	n/a	n/a
8	CTCF	chr10:37814473-37814648	Gliobla	brain:	n/a	n/a
9	CTCF	chr10:37814360-37814510	GM12871	blood:	n/a	n/a
10	CTCF	chr10:37823290-37823292	Fibrobl	skin:	n/a	n/a
11	CTCF	chr10:37814500-37814650	WERI-Rb-1	eye:	n/a	n/a
12	CTCF	chr10:37823233-37823288	Fibrobl	skin:	n/a	n/a
13	CTCF	chr10:37823098-37823379	MCF-7	breast:	n/a	n/a
14	CTCF	chr10:37823161-37823359	MCF-7	breast:	n/a	n/a
15	CTCF	chr10:37814505-37814579	GM12878	blood:	n/a	n/a
16	CTCF	chr10:37814519-37814528	HUVEC	blood vessel:	n/a	n/a
17	CTCF	chr10:37814431-37814624	HepG2	liver:	n/a	n/a
18	CTCF	chr10:37814473-37814626	HepG2	liver:	n/a	n/a
19	CTCF	chr10:37814400-37814550	NHEK	skin:	n/a	n/a
20	CTCF	chr10:37814470-37814648	MCF-7	breast:	n/a	n/a
21	CTCF	chr10:37814500-37814650	HepG2	liver:	n/a	n/a
22	CTCF	chr10:37814400-37814550	SK-N-SH_RA	brain:	n/a	n/a
23	CTCF	chr10:37814407-37814633	A549	lung:	n/a	n/a
24	CTCF	chr10:37814487-37814638	ProgFib	skin:	n/a	n/a
25	CTCF	chr10:37823211-37823307	LNCaP	prostate:	n/a	n/a
26	CTCF	chr10:37814456-37814605	LNCaP	prostate:	n/a	n/a
27	CTCF	chr10:37814380-37814530	GM12875	blood:	n/a	n/a
28	CTCF	chr10:37814531-37814560	HUVEC	blood vessel:	n/a	n/a
29	CTCF	chr10:37814380-37814530	GM12874	blood:	n/a	n/a
30	CTCF	chr10:37814467-37814571	LNCaP	prostate:	n/a	n/a
31	CTCF	chr10:37814380-37814530	NHEK	skin:	n/a	n/a
32	CTCF	chr10:37814380-37814530	AG09319	gingival:	n/a	n/a
33	CTCF	chr10:37814520-37814670	AG09309	skin:	n/a	n/a
34	CTCF	chr10:37814441-37814680	GM12878	blood:	n/a	n/a
35	CTCF	chr10:37814459-37814594	Pancreas_OC	pancreas:	n/a	n/a
36	CTCF	chr10:37814060-37814210	NB4	blood:	n/a	n/a
37	CTCF	chr10:37814500-37814650	HMF	breast:	n/a	n/a
38	CTCF	chr10:37814400-37814550	Caco-2	colon:	n/a	n/a
39	CTCF	chr10:37814512-37814572	MCF-7	breast:	n/a	n/a
40	CTCF	chr10:37814503-37814554	GM10266	blood:	n/a	n/a
41	CTCF	chr10:37814505-37814578	K562	blood:	n/a	n/a
42	CTCF	chr10:37814510-37814635	Fibrobl	skin:	n/a	n/a
43	CTCF	chr10:37814280-37814430	NB4	blood:	n/a	n/a
44	CTCF	chr10:37814512-37814629	A549	lung:	n/a	n/a
45	CTCF	chr10:37814493-37814558	Kidney_OC	kidney:	n/a	n/a
46	CTCF	chr10:37814530-37814610	NHEK	skin:	n/a	n/a
47	CTCF	chr10:37814400-37814550	GM12870	blood:	n/a	n/a
48	CTCF	chr10:37814380-37814530	GM12866	blood:	n/a	n/a
49	CTCF	chr10:37814560-37814710	GM06990	blood:	n/a	n/a
50	CTCF	chr10:37814460-37814610	HEK293	kidney:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:37822844..37823593-chr8:38687776..38688471,2	K562	blood:
2	chr10:37813995..37814614-chr10:37996634..37997459,3	MCF-7	breast:
3	chr10:37822760..37823349-chr10:37996545..37997377,2	MCF-7	breast:

No data

Variant related genes	Relation type
TACC1P1	TF binding region

Extended variants
information (count: 144 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556087590	chr10:37809021-37809022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575954325	chr10:37809075-37809076	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs186556310	chr10:37809098-37809099	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs141195252	chr10:37809172-37809173	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs568086056	chr10:37809185-37809186	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs149763743	chr10:37809195-37809196	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs77962912	chr10:37809361-37809362	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs529135335	chr10:37809393-37809394	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs540072048	chr10:37809409-37809410	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs547168963	chr10:37809420-37809421	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs564826066	chr10:37809463-37809464	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs192211037	chr10:37809509-37809510	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs541210723	chr10:37809522-37809523	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs117704390	chr10:37809529-37809530	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs183540926	chr10:37809560-37809561	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs188737901	chr10:37809641-37809642	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs537424794	chr10:37809669-37809670	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs566661282	chr10:37809682-37809683	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs557872441	chr10:37809732-37809733	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs145106049	chr10:37809786-37809787	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs534043180	chr10:37809810-37809811	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs540434231	chr10:37809813-37809814	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs371047082	chr10:37809831-37809832	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs12355341	chr10:37809835-37809836	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs370989985	chr10:37809867-37809868	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs573621823	chr10:37809870-37809871	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs115286192	chr10:37810200-37810201	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs551801428	chr10:37810224-37810225	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs182552892	chr10:37810261-37810262	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs74977169	chr10:37810288-37810289	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs557431414	chr10:37810289-37810290	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs186837508	chr10:37810295-37810296	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs12777805	chr10:37810300-37810301	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs375328588	chr10:37810303-37810304	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs573535362	chr10:37810309-37810310	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs191464293	chr10:37810346-37810347	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs562490734	chr10:37810349-37810350	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs557587435	chr10:37810356-37810357	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs547555767	chr10:37810358-37810359	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs183594695	chr10:37810419-37810420	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs555219433	chr10:37810420-37810421	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs12776379	chr10:37810422-37810423	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs564288023	chr10:37810429-37810430	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs190525321	chr10:37810529-37810530	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs368671790	chr10:37810578-37810579	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs71489150	chr10:37810597-37810598	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs560550165	chr10:37810603-37810604	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs146953906	chr10:37810683-37810684	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs71489151	chr10:37810694-37810695	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs569545818	chr10:37810718-37810719	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Bethlem myopathy	20302629	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Glioblastoma multiforme	22286061	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hepatocellular carcinoma	16785998	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD
Lung cancer	21569311	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:37809000-37809400	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr10:37809000-37809400	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr10:37810200-37812400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr10:37823000-37825200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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