Variant report

Variant	nsv948298
Chromosome Location	chr10:42648708-42649911
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:77)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:77 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr10:42648710-42649578	GM12878	blood:	n/a	n/a
2	BATF	chr10:42648769-42649302	GM12878	blood:	n/a	n/a
3	BCL11A	chr10:42648959-42649302	GM12878	blood:	n/a	n/a
4	BCL11A	chr10:42648740-42649373	GM12878	blood:	n/a	n/a
5	BCL11A	chr10:42648696-42648958	GM12878	blood:	n/a	n/a
6	BHLHE40	chr10:42649382-42649598	HepG2	liver:	n/a	n/a
7	EBF1	chr10:42648722-42649028	GM12878	blood:	n/a	n/a
8	EBF1	chr10:42648616-42649692	GM12878	blood:	n/a	n/a
9	EP300	chr10:42648098-42649428	GM12878	blood:	n/a	n/a
10	EP300	chr10:42649401-42649798	GM12878	blood:	n/a	n/a
11	EP300	chr10:42648764-42649350	GM12878	blood:	n/a	n/a
12	FOSL2	chr10:42648124-42649334	HepG2	liver:	n/a	chr10:42648422-42648434
13	FOSL2	chr10:42648103-42649443	HepG2	liver:	n/a	chr10:42648422-42648434
14	FOXA1	chr10:42648061-42649396	HepG2	liver:	n/a	n/a
15	GABPA	chr10:42648113-42649577	Hela-S3	cervix:	n/a	n/a
16	GABPA	chr10:42648793-42649038	Hela-S3	cervix:	n/a	n/a
17	GABPA	chr10:42649105-42649242	Hela-S3	cervix:	n/a	n/a
18	GATA2	chr10:42649377-42649626	K562	blood:	n/a	n/a
19	GATA2	chr10:42648818-42649257	K562	blood:	n/a	n/a
20	HEY1	chr10:42648086-42649251	K562	blood:	n/a	n/a
21	HEY1	chr10:42649095-42649255	HepG2	liver:	n/a	n/a
22	IRF4	chr10:42648092-42649524	GM12878	blood:	n/a	n/a
23	IRF4	chr10:42648648-42649443	GM12878	blood:	n/a	n/a
24	JUND	chr10:42648783-42649029	HepG2	liver:	n/a	n/a
25	JUND	chr10:42648678-42649377	HepG2	liver:	n/a	n/a
26	PAX5	chr10:42648664-42649105	GM12878	blood:	n/a	n/a
27	PAX5	chr10:42648099-42649471	GM12878	blood:	n/a	n/a
28	PAX5	chr10:42648706-42649279	GM12878	blood:	n/a	n/a
29	PAX5	chr10:42648794-42649093	GM12878	blood:	n/a	n/a
30	PBX3	chr10:42648755-42648937	GM12878	blood:	n/a	n/a
31	PBX3	chr10:42649382-42649618	GM12878	blood:	n/a	n/a
32	PBX3	chr10:42649023-42649348	GM12878	blood:	n/a	n/a
33	PBX3	chr10:42648750-42649094	GM12878	blood:	n/a	n/a
34	POLR2A	chr10:42649027-42649292	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr10:42648764-42649146	GM12878	blood:	n/a	n/a
36	POLR2A	chr10:42648646-42649183	H1-hESC	embryonic stem cell:	n/a	n/a
37	POU2F2	chr10:42648081-42649704	GM12878	blood:	n/a	chr10:42649339-42649349
38	POU2F2	chr10:42649650-42649811	GM12878	blood:	n/a	n/a
39	RXRA	chr10:42649796-42650742	HepG2	liver:	n/a	n/a
40	RXRA	chr10:42648953-42649418	HepG2	liver:	n/a	n/a
41	RXRA	chr10:42648101-42648952	HepG2	liver:	n/a	n/a
42	RXRA	chr10:42648114-42649786	HepG2	liver:	n/a	n/a
43	SIN3AK20	chr10:42648751-42649272	HepG2	liver:	n/a	n/a
44	SIN3AK20	chr10:42648647-42648744	HepG2	liver:	n/a	n/a
45	SIN3AK20	chr10:42648415-42649566	HepG2	liver:	n/a	n/a
46	SIN3AK20	chr10:42649896-42650008	HepG2	liver:	n/a	n/a
47	SIX5	chr10:42648815-42649856	GM12878	blood:	n/a	chr10:42649296-42649310
48	SIX5	chr10:42648111-42649575	K562	blood:	n/a	chr10:42649296-42649310
49	SIX5	chr10:42648108-42649597	K562	blood:	n/a	chr10:42649296-42649310
50	SP1	chr10:42648143-42650993	GM12878	blood:	n/a	chr10:42650169-42650176

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:42649823-42649873	HCT-116	colon:	n/a
2	chr10:42649823-42649873	Hela-S3	cervix:	n/a
3	chr10:42649823-42649873	BE2_C	brain:	n/a
4	chr10:42649823-42649873	NH-A	brain:	n/a
5	chr10:42649823-42649873	AG10803	skin:	n/a
6	chr10:42649823-42649873	AG04449	skin:	fetal
7	chr10:42649823-42649873	GM12891	blood:	n/a
8	chr10:42649823-42649873	HMEC	breast:	n/a
9	chr10:42649823-42649873	A549	lung:	n/a
10	chr10:42649823-42649873	Jurkat	blood:	n/a
11	chr10:42649823-42649873	ProgFib	skin:	n/a
12	chr10:42649823-42649873	HEEpiC	esophagus:	n/a
13	chr10:42649823-42649873	ECC-1	luminal epithelium:	n/a
14	chr10:42649823-42649873	PFSK-1	brain:	n/a
15	chr10:42649823-42649873	NT2-D1	testis:	n/a
16	chr10:42649823-42649873	HRPEpiC	eye:	n/a
17	chr10:42649823-42649873	Caco-2	colon:	n/a
18	chr10:42649823-42649873	T-47D	breast:	n/a
19	chr10:42649823-42649873	HepG2	liver:	n/a
20	chr10:42649823-42649873	HPAEpiC	pulmonary alveolar:	n/a
21	chr10:42649823-42649873	HCPEpiC	choroid plexus:	n/a
22	chr10:42649823-42649873	GM12892	blood:	n/a
23	chr10:42649823-42649873	AG09309	skin:	n/a
24	chr10:42649823-42649873	PrEC	prostate:	n/a
25	chr10:42649823-42649873	SK-N-MC	brain:	n/a
26	chr10:42649823-42649873	AG09319	gingival:	n/a
27	chr10:42649823-42649873	SK-N-SH_RA	brain:	n/a
28	chr10:42649823-42649873	K562	blood:	n/a
29	chr10:42649823-42649873	PANC-1	pancreas:	n/a
30	chr10:42649823-42649873	HUVEC	blood vessel:	n/a
31	chr10:42649823-42649873	HRCEpiC	kidney:	n/a
32	chr10:42649823-42649873	AG04450	lung:	fetal
33	chr10:42649823-42649873	LNCaP	prostate:	n/a
34	chr10:42649823-42649873	MCF10A-Er-Src	breast:	n/a
35	chr10:42649823-42649873	HL-60	blood:	n/a
36	chr10:42649823-42649873	NB4	blood:	n/a
37	chr10:42649823-42649873	HAEpiC	amniotic membrane:	n/a
38	chr10:42649823-42649873	Hepatocyte	liver:	n/a
39	chr10:42649823-42649873	NHBE	bronchial:	n/a
40	chr10:42649823-42649873	HNPCEpiC	eye:	n/a
41	chr10:42649823-42649873	GM19239	blood:	n/a
42	chr10:42649823-42649873	HCF	heart:	n/a
43	chr10:42649823-42649873	ovcar-3	ovarian:	n/a
44	chr10:42649823-42649873	RPTEC	kidney:	n/a
45	chr10:42649823-42649873	HIPEpiC	eye:	n/a
46	chr10:42649823-42649873	CMK	blood:	n/a
47	chr10:42649823-42649873	GM12878	blood:	n/a
48	chr10:42649823-42649873	GM06990	blood:	n/a
49	chr10:42649823-42649873	U87	brain:	n/a
50	chr10:42649823-42649873	SK-N-SH	brain:	n/a

No data

Variant related genes	Relation type
KSR1P1	TF binding region
KSR1P1	CpG island

Extended variants
information (count: 156 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:156 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4606439	chr10:42648722-42648723	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs572285732	chr10:42648724-42648725	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs4551714	chr10:42648740-42648741	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs554716019	chr10:42648744-42648745	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs75390897	chr10:42648758-42648759	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs79233160	chr10:42648791-42648792	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs201658472	chr10:42648823-42648824	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs369899802	chr10:42648831-42648832	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs201209405	chr10:42648832-42648833	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs370961582	chr10:42648854-42648855	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs201985801	chr10:42648855-42648856	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs370236357	chr10:42648856-42648857	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs4550173	chr10:42648866-42648867	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs199954468	chr10:42648871-42648872	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs75352940	chr10:42648886-42648887	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs543158318	chr10:42648896-42648897	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs556627301	chr10:42648906-42648907	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs75715424	chr10:42648909-42648910	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs76219273	chr10:42648912-42648913	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs189519093	chr10:42648918-42648919	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs576463374	chr10:42648932-42648933	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs4420215	chr10:42648942-42648943	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs201457839	chr10:42648946-42648947	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs4312021	chr10:42648948-42648949	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs78648434	chr10:42648950-42648951	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs61847216	chr10:42648959-42648960	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs78950707	chr10:42648960-42648961	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs527949372	chr10:42648962-42648963	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs61847217	chr10:42648966-42648967	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs77574617	chr10:42648975-42648976	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs561484549	chr10:42648989-42648990	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs76868620	chr10:42648998-42648999	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs4561157	chr10:42649003-42649004	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs61847218	chr10:42649008-42649009	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs4478943	chr10:42649018-42649019	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs181539619	chr10:42649023-42649024	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs373392071	chr10:42649024-42649025	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs80080343	chr10:42649025-42649026	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs530315711	chr10:42649043-42649044	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs367573589	chr10:42649049-42649050	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs4604825	chr10:42649053-42649054	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs550340405	chr10:42649079-42649080	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs201543713	chr10:42649088-42649089	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs376041800	chr10:42649092-42649093	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs570151342	chr10:42649094-42649095	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs532582385	chr10:42649095-42649096	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs552577322	chr10:42649101-42649102	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs565852535	chr10:42649110-42649111	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs534878563	chr10:42649113-42649114	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs10444173	chr10:42649120-42649121	Inactive region	TF binding region	1 gene(s)	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:42649600-42651200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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