Variant report

Variant	nsv550627
Chromosome Location	chr10:42642528-42664245
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	BATF	chr10:42647665-42647940	GM12878	blood:	n/a	n/a
2	BATF	chr10:42643277-42643477	GM12878	blood:	n/a	n/a
3	BATF	chr10:42662289-42662960	GM12878	blood:	n/a	n/a
4	BATF	chr10:42648769-42649302	GM12878	blood:	n/a	n/a
5	BATF	chr10:42661279-42666179	GM12878	blood:	n/a	chr10:42665305-42665316
6	BATF	chr10:42650167-42650682	GM12878	blood:	n/a	chr10:42650535-42650546
7	BATF	chr10:42643179-42643456	GM12878	blood:	n/a	n/a
8	BATF	chr10:42648710-42649578	GM12878	blood:	n/a	n/a
9	BATF	chr10:42648356-42648599	GM12878	blood:	n/a	n/a
10	BATF	chr10:42651846-42652170	GM12878	blood:	n/a	n/a
11	BATF	chr10:42661385-42662259	GM12878	blood:	n/a	n/a
12	BATF	chr10:42647658-42648038	GM12878	blood:	n/a	n/a
13	BATF	chr10:42650381-42650675	GM12878	blood:	n/a	chr10:42650535-42650546
14	BATF	chr10:42651843-42652346	GM12878	blood:	n/a	n/a
15	BATF	chr10:42648105-42648599	GM12878	blood:	n/a	n/a
16	BATF	chr10:42648114-42648316	GM12878	blood:	n/a	n/a
17	BATF	chr10:42663387-42664486	GM12878	blood:	n/a	n/a
18	BCL11A	chr10:42657094-42657376	GM12878	blood:	n/a	n/a
19	BCL11A	chr10:42650006-42650744	GM12878	blood:	n/a	n/a
20	BCL11A	chr10:42663146-42664513	GM12878	blood:	n/a	n/a
21	BCL11A	chr10:42650057-42650664	GM12878	blood:	n/a	n/a
22	BCL11A	chr10:42651805-42652095	GM12878	blood:	n/a	n/a
23	BCL11A	chr10:42647671-42648027	GM12878	blood:	n/a	n/a
24	BCL11A	chr10:42647616-42648021	GM12878	blood:	n/a	n/a
25	BCL11A	chr10:42648696-42648958	GM12878	blood:	n/a	n/a
26	BCL11A	chr10:42648101-42648339	GM12878	blood:	n/a	n/a
27	BCL11A	chr10:42653464-42653613	GM12878	blood:	n/a	n/a
28	BCL11A	chr10:42662296-42663182	GM12878	blood:	n/a	n/a
29	BCL11A	chr10:42661292-42663036	GM12878	blood:	n/a	n/a
30	BCL11A	chr10:42651808-42652061	GM12878	blood:	n/a	n/a
31	BCL11A	chr10:42648107-42648651	GM12878	blood:	n/a	n/a
32	BCL11A	chr10:42648402-42648579	GM12878	blood:	n/a	n/a
33	BCL11A	chr10:42661318-42662144	GM12878	blood:	n/a	n/a
34	BCL11A	chr10:42648959-42649302	GM12878	blood:	n/a	n/a
35	BCL11A	chr10:42647046-42647301	GM12878	blood:	n/a	n/a
36	BCL11A	chr10:42648740-42649373	GM12878	blood:	n/a	n/a
37	BHLHE40	chr10:42649382-42649598	HepG2	liver:	n/a	n/a
38	BHLHE40	chr10:42662276-42662958	HepG2	liver:	n/a	n/a
39	BHLHE40	chr10:42664114-42664435	HepG2	liver:	n/a	n/a
40	BHLHE40	chr10:42661414-42661770	HepG2	liver:	n/a	n/a
41	BHLHE40	chr10:42650564-42650834	HepG2	liver:	n/a	n/a
42	BHLHE40	chr10:42648084-42648293	HepG2	liver:	n/a	n/a
43	BHLHE40	chr10:42651800-42652082	HepG2	liver:	n/a	n/a
44	BHLHE40	chr10:42663639-42664098	HepG2	liver:	n/a	n/a
45	BHLHE40	chr10:42661772-42662219	HepG2	liver:	n/a	n/a
46	BHLHE40	chr10:42647458-42647722	HepG2	liver:	n/a	n/a
47	BHLHE40	chr10:42652166-42652401	HepG2	liver:	n/a	n/a
48	CEBPB	chr10:42658920-42659121	HepG2	liver:	n/a	chr10:42659051-42659062 chr10:42659053-42659062 chr10:42659053-42659062 chr10:42659051-42659064 chr10:42659053-42659062 chr10:42659051-42659062 chr10:42659053-42659062 chr10:42659051-42659064 chr10:42659051-42659064 chr10:42659052-42659063
49	CEBPB	chr10:42658930-42659133	IMR90	lung:	n/a	chr10:42659051-42659062 chr10:42659053-42659062 chr10:42659053-42659062 chr10:42659051-42659064 chr10:42659053-42659062 chr10:42659051-42659062 chr10:42659053-42659062 chr10:42659051-42659064 chr10:42659051-42659064 chr10:42659052-42659063
50	CEBPD	chr10:42664067-42664520	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:42646111-42646161	HRPEpiC	eye:	n/a
2	chr10:42644887-42644937	HepG2	liver:	n/a
3	chr10:42645466-42645516	HepG2	liver:	n/a
4	chr10:42646111-42646161	NT2-D1	testis:	n/a
5	chr10:42644887-42644937	MCF10A-Er-Src	breast:	n/a
6	chr10:42649823-42649873	U87	brain:	n/a
7	chr10:42646111-42646161	HRCEpiC	kidney:	n/a
8	chr10:42646111-42646161	Caco-2	colon:	n/a
9	chr10:42649823-42649873	SAEC	small airway:	n/a
10	chr10:42642959-42643009	T-47D	breast:	n/a
11	chr10:42645466-42645516	SK-N-SH_RA	brain:	n/a
12	chr10:42649823-42649873	HUVEC	blood vessel:	n/a
13	chr10:42645466-42645516	GM19239	blood:	n/a
14	chr10:42649823-42649873	GM19239	blood:	n/a
15	chr10:42645466-42645516	HMEC	breast:	n/a
16	chr10:42646111-42646161	RPTEC	kidney:	n/a
17	chr10:42649823-42649873	AG09309	skin:	n/a
18	chr10:42649823-42649873	IMR90	lung:	fetal
19	chr10:42642959-42643009	HRPEpiC	eye:	n/a
20	chr10:42649823-42649873	HepG2	liver:	n/a
21	chr10:42649823-42649873	H1-hESC	embryonic stem cell:	embryo
22	chr10:42644887-42644937	HL-60	blood:	n/a
23	chr10:42649823-42649873	GM12892	blood:	n/a
24	chr10:42644887-42644937	ECC-1	luminal epithelium:	n/a
25	chr10:42649823-42649873	SK-N-MC	brain:	n/a
26	chr10:42649823-42649873	A549	lung:	n/a
27	chr10:42646111-42646161	HCT-116	colon:	n/a
28	chr10:42645466-42645516	SK-N-MC	brain:	n/a
29	chr10:42645466-42645516	HRCEpiC	kidney:	n/a
30	chr10:42645466-42645516	HRPEpiC	eye:	n/a
31	chr10:42646111-42646161	ovcar-3	ovarian:	n/a
32	chr10:42649823-42649873	ovcar-3	ovarian:	n/a
33	chr10:42646111-42646161	HCPEpiC	choroid plexus:	n/a
34	chr10:42645466-42645516	PrEC	prostate:	n/a
35	chr10:42642959-42643009	PFSK-1	brain:	n/a
36	chr10:42645466-42645516	AG09319	gingival:	n/a
37	chr10:42644887-42644937	LNCaP	prostate:	n/a
38	chr10:42644887-42644937	ProgFib	skin:	n/a
39	chr10:42642959-42643009	HIPEpiC	eye:	n/a
40	chr10:42649823-42649873	ProgFib	skin:	n/a
41	chr10:42645466-42645516	HAEpiC	amniotic membrane:	n/a
42	chr10:42642959-42643009	NHBE	bronchial:	n/a
43	chr10:42649823-42649873	GM12891	blood:	n/a
44	chr10:42645466-42645516	H1-hESC	embryonic stem cell:	embryo
45	chr10:42646111-42646161	SKMC	muscle:	n/a
46	chr10:42645466-42645516	CMK	blood:	n/a
47	chr10:42646111-42646161	MCF10A-Er-Src	breast:	n/a
48	chr10:42649823-42649873	HRE	kidney:	n/a
49	chr10:42646111-42646161	IMR90	lung:	fetal
50	chr10:42649823-42649873	AoSMC	blood vessel:	n/a

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

Extended variants
information (count: 2421 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:2421 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12779446	chr10:42642528-42642529	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113274155	chr10:42642530-42642531	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146627374	chr10:42642538-42642539	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76816219	chr10:42642547-42642548	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373844809	chr10:42642552-42642553	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563860778	chr10:42642556-42642557	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532818681	chr10:42642580-42642581	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75436373	chr10:42642581-42642582	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138702563	chr10:42642590-42642591	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376816537	chr10:42642593-42642594	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528600823	chr10:42642599-42642600	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538458905	chr10:42642621-42642622	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78005500	chr10:42642625-42642626	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199969379	chr10:42642632-42642633	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568533943	chr10:42642635-42642636	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201092659	chr10:42642641-42642642	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550928068	chr10:42642647-42642648	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570674893	chr10:42642648-42642649	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558426687	chr10:42642654-42642655	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552761017	chr10:42642655-42642656	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369452638	chr10:42642656-42642657	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79227738	chr10:42642657-42642658	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75835786	chr10:42642681-42642682	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373940018	chr10:42642693-42642694	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75423367	chr10:42642694-42642695	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374043538	chr10:42642706-42642707	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535268593	chr10:42642711-42642712	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184401545	chr10:42642712-42642713	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75362923	chr10:42642718-42642719	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111944249	chr10:42642720-42642721	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200456816	chr10:42642731-42642732	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543895218	chr10:42642748-42642749	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79716386	chr10:42642765-42642766	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564081656	chr10:42642784-42642785	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78560523	chr10:42642786-42642787	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77942516	chr10:42642793-42642794	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75652422	chr10:42642794-42642795	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76194104	chr10:42642800-42642801	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577477366	chr10:42642818-42642819	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76425136	chr10:42642819-42642820	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201725657	chr10:42642837-42642838	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560084518	chr10:42642869-42642870	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140561228	chr10:42642870-42642871	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79638532	chr10:42642896-42642897	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368564626	chr10:42642898-42642899	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77227111	chr10:42642899-42642900	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs80303055	chr10:42642930-42642931	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145857368	chr10:42642953-42642954	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368703695	chr10:42642954-42642955	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74522004	chr10:42642964-42642965	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	20531469	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:42640000-42644600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr10:42640400-42644800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr10:42640600-42646400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr10:42641000-42645400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr10:42641600-42643600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:42643400-42645200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr10:42643400-42645800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
8	chr10:42643600-42645000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
9	chr10:42643600-42645200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
10	chr10:42643600-42646000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr10:42643600-42646000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr10:42643600-42646200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:42643800-42646400	ZNF genes & repeats	Fetal Stomach	stomach
14	chr10:42644000-42645400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
15	chr10:42644000-42646000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr10:42644000-42646600	ZNF genes & repeats	Adipose Nuclei	Adipose
17	chr10:42644200-42644600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
18	chr10:42644200-42644800	ZNF genes & repeats	Primary T cells from cord blood	blood
19	chr10:42644200-42645200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
20	chr10:42644200-42645400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
21	chr10:42644200-42645600	ZNF genes & repeats	Thymus	Thymus
22	chr10:42644200-42646000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
23	chr10:42644200-42646200	ZNF genes & repeats	Lung	lung
24	chr10:42644200-42646400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr10:42644400-42645400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr10:42644400-42645600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
27	chr10:42644400-42645800	ZNF genes & repeats	Colonic Mucosa	Colon
28	chr10:42644400-42645800	ZNF genes & repeats	Spleen	Spleen
29	chr10:42644400-42646600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr10:42644400-42646600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
31	chr10:42644400-42646600	ZNF genes & repeats	Pancreas	Pancrea
32	chr10:42644600-42645800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr10:42644600-42645800	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
34	chr10:42644600-42646000	ZNF genes & repeats	Ovary	ovary
35	chr10:42644800-42645200	Bivalent Enhancer	Placenta	Placenta
36	chr10:42644800-42646200	Active TSS	Primary T cells from cord blood	blood
37	chr10:42644800-42646400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
38	chr10:42645000-42645400	ZNF genes & repeats	HMEC	breast
39	chr10:42645000-42645800	Bivalent/Poised TSS	Right Ventricle	heart
40	chr10:42645000-42645800	Bivalent/Poised TSS	A549	lung
41	chr10:42645000-42646400	ZNF genes & repeats	Fetal Intestine Large	intestine
42	chr10:42645200-42645400	Flanking Bivalent TSS/Enh	Placenta	Placenta
43	chr10:42645200-42645800	ZNF genes & repeats	HUVEC	blood vessel
44	chr10:42645200-42646200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
45	chr10:42645200-42646200	Active TSS	Osteobl	bone
46	chr10:42645200-42646400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
47	chr10:42645400-42645600	Bivalent Enhancer	Placenta	Placenta
48	chr10:42645400-42645600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
49	chr10:42645600-42645800	Flanking Bivalent TSS/Enh	Placenta	Placenta
50	chr10:42645600-42646400	Active TSS	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links