Variant report

Variant	esv3442435
Chromosome Location	chr10:42725946-42732444
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	chr10:42728616-42728667	Kidney_OC	kidney:	n/a	n/a
2	EP300	chr10:42728422-42728691	GM12878	blood:	n/a	n/a
3	FOSL2	chr10:42728425-42728846	HepG2	liver:	n/a	n/a
4	GABPA	chr10:42728463-42728840	Hela-S3	cervix:	n/a	n/a
5	GABPA	chr10:42726134-42726345	Hela-S3	cervix:	n/a	n/a
6	PAX5	chr10:42726176-42726428	GM12878	blood:	n/a	n/a
7	POLR2A	chr10:42730003-42730193	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr10:42728872-42729008	Gliobla	brain:	n/a	n/a
9	POU2F2	chr10:42726118-42726531	GM12878	blood:	n/a	n/a
10	POU2F2	chr10:42728401-42728793	GM12878	blood:	n/a	n/a
11	REST	chr10:42730078-42730565	PANC-1	pancreas:	n/a	n/a
12	TAF1	chr10:42726134-42726571	GM12892	blood:	n/a	n/a
13	ZBTB33	chr10:42728525-42728762	K562	blood:	n/a	n/a
14	ZBTB33	chr10:42732383-42732492	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000264398	TF binding region

Extended variants
information (count: 376 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:376 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572140907	chr10:42725949-42725950	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541041045	chr10:42725981-42725982	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560971569	chr10:42726001-42726002	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529634137	chr10:42726040-42726041	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75302631	chr10:42726068-42726069	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77591107	chr10:42726073-42726074	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549695619	chr10:42726080-42726081	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528638130	chr10:42726091-42726092	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144338581	chr10:42726093-42726094	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377141847	chr10:42726104-42726105	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs180671938	chr10:42726137-42726138	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35767676	chr10:42726145-42726146	Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74230800	chr10:42726225-42726226	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs372371936	chr10:42726233-42726234	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs571424519	chr10:42726235-42726236	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs79015042	chr10:42726256-42726257	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs199542962	chr10:42726272-42726273	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs112283349	chr10:42726295-42726296	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs202031673	chr10:42726308-42726309	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs534062428	chr10:42726309-42726310	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs547464659	chr10:42726313-42726314	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs76043651	chr10:42726349-42726350	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs78324735	chr10:42726368-42726369	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs567700553	chr10:42726378-42726379	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs74230801	chr10:42726404-42726405	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs193082178	chr10:42726418-42726419	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs536243973	chr10:42726440-42726441	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs370258441	chr10:42726443-42726444	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs184740018	chr10:42726469-42726470	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs74947556	chr10:42726470-42726471	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs541839106	chr10:42726475-42726476	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs375123094	chr10:42726476-42726477	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs538855967	chr10:42726479-42726480	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs558748714	chr10:42726481-42726482	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs369333752	chr10:42726496-42726497	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs372739443	chr10:42726510-42726511	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs572251939	chr10:42726522-42726523	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs376248762	chr10:42726529-42726530	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs368284543	chr10:42726559-42726560	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs541153640	chr10:42726560-42726561	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs560815889	chr10:42726576-42726577	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs201112664	chr10:42726580-42726581	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs574413563	chr10:42726581-42726582	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs368179409	chr10:42726591-42726592	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs374810839	chr10:42726608-42726609	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs543010379	chr10:42726613-42726614	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs563200004	chr10:42726619-42726620	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs531850863	chr10:42726649-42726650	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs376743702	chr10:42726650-42726651	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs145785464	chr10:42726738-42726739	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Breast cancer	21509527	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
Obesity	20622171	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
Lung cancer	21569311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
Autism	20531469	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:42725600-42726200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:42725600-42726200	Enhancers	Pancreas	Pancrea
3	chr10:42725600-42726800	ZNF genes & repeats	Esophagus	oesophagus
4	chr10:42726200-42726800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:42726800-42728200	Weak transcription	Esophagus	oesophagus
6	chr10:42728200-42730600	Enhancers	Esophagus	oesophagus
7	chr10:42728800-42729400	ZNF genes & repeats	Spleen	Spleen
8	chr10:42728800-42730400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr10:42729000-42729400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr10:42729400-42732200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr10:42732200-42732400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr10:42732200-42732400	Enhancers	Gastric	stomach
13	chr10:42732400-42742600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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