Variant report

Variant	esv3507250
Chromosome Location	chr10:42599639-42663426
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1284)
CpG islands
(count:733)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1284 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr10:42599390-42600242	K562	blood:	n/a	n/a
2	ATF1	chr10:42599330-42600242	K562	blood:	n/a	n/a
3	BACH1	chr10:42599263-42600248	K562	blood:	n/a	n/a
4	BATF	chr10:42643179-42643456	GM12878	blood:	n/a	n/a
5	BATF	chr10:42648356-42648599	GM12878	blood:	n/a	n/a
6	BATF	chr10:42596620-42600732	GM12878	blood:	n/a	n/a
7	BATF	chr10:42648769-42649302	GM12878	blood:	n/a	n/a
8	BATF	chr10:42650167-42650682	GM12878	blood:	n/a	chr10:42650535-42650546
9	BATF	chr10:42610545-42610776	GM12878	blood:	n/a	n/a
10	BATF	chr10:42647658-42648038	GM12878	blood:	n/a	n/a
11	BATF	chr10:42600759-42601656	GM12878	blood:	n/a	n/a
12	BATF	chr10:42647665-42647940	GM12878	blood:	n/a	n/a
13	BATF	chr10:42611063-42611437	GM12878	blood:	n/a	n/a
14	BATF	chr10:42650381-42650675	GM12878	blood:	n/a	chr10:42650535-42650546
15	BATF	chr10:42614296-42614594	GM12878	blood:	n/a	n/a
16	BATF	chr10:42661279-42666179	GM12878	blood:	n/a	chr10:42665305-42665316
17	BATF	chr10:42614232-42614528	GM12878	blood:	n/a	n/a
18	BATF	chr10:42596622-42600748	GM12878	blood:	n/a	n/a
19	BATF	chr10:42651846-42652170	GM12878	blood:	n/a	n/a
20	BATF	chr10:42643277-42643477	GM12878	blood:	n/a	n/a
21	BATF	chr10:42611560-42611800	GM12878	blood:	n/a	n/a
22	BATF	chr10:42648710-42649578	GM12878	blood:	n/a	n/a
23	BATF	chr10:42610090-42610374	GM12878	blood:	n/a	n/a
24	BATF	chr10:42661385-42662259	GM12878	blood:	n/a	n/a
25	BATF	chr10:42610777-42611041	GM12878	blood:	n/a	n/a
26	BATF	chr10:42612767-42613144	GM12878	blood:	n/a	n/a
27	BATF	chr10:42648105-42648599	GM12878	blood:	n/a	n/a
28	BATF	chr10:42662289-42662960	GM12878	blood:	n/a	n/a
29	BATF	chr10:42611144-42611526	GM12878	blood:	n/a	n/a
30	BATF	chr10:42648114-42648316	GM12878	blood:	n/a	n/a
31	BATF	chr10:42651843-42652346	GM12878	blood:	n/a	n/a
32	BATF	chr10:42663387-42664486	GM12878	blood:	n/a	n/a
33	BATF	chr10:42601164-42601564	GM12878	blood:	n/a	n/a
34	BCL11A	chr10:42648402-42648579	GM12878	blood:	n/a	n/a
35	BCL11A	chr10:42662296-42663182	GM12878	blood:	n/a	n/a
36	BCL11A	chr10:42641003-42641194	GM12878	blood:	n/a	n/a
37	BCL11A	chr10:42650006-42650744	GM12878	blood:	n/a	n/a
38	BCL11A	chr10:42647046-42647301	GM12878	blood:	n/a	n/a
39	BCL11A	chr10:42648107-42648651	GM12878	blood:	n/a	n/a
40	BCL11A	chr10:42612765-42613115	GM12878	blood:	n/a	n/a
41	BCL11A	chr10:42650057-42650664	GM12878	blood:	n/a	n/a
42	BCL11A	chr10:42614300-42614515	GM12878	blood:	n/a	n/a
43	BCL11A	chr10:42651808-42652061	GM12878	blood:	n/a	n/a
44	BCL11A	chr10:42611136-42611522	GM12878	blood:	n/a	n/a
45	BCL11A	chr10:42596610-42601589	GM12878	blood:	n/a	n/a
46	BCL11A	chr10:42648959-42649302	GM12878	blood:	n/a	n/a
47	BCL11A	chr10:42647671-42648027	GM12878	blood:	n/a	n/a
48	BCL11A	chr10:42612506-42613155	GM12878	blood:	n/a	n/a
49	BCL11A	chr10:42647616-42648021	GM12878	blood:	n/a	n/a
50	BCL11A	chr10:42651805-42652095	GM12878	blood:	n/a	n/a

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:42607695-42607745	BE2_C	brain:	n/a
2	chr10:42607695-42607745	BE2_C	brain:	n/a
3	chr10:42633559-42633609	HNPCEpiC	eye:	n/a
4	chr10:42645466-42645516	HRCEpiC	kidney:	n/a
5	chr10:42633181-42633231	Hepatocyte	liver:	n/a
6	chr10:42642959-42643009	H1-hESC	embryonic stem cell:	embryo
7	chr10:42607695-42607745	HUVEC	blood vessel:	n/a
8	chr10:42645466-42645516	Hepatocyte	liver:	n/a
9	chr10:42641430-42641480	AG10803	skin:	n/a
10	chr10:42646111-42646161	Caco-2	colon:	n/a
11	chr10:42641430-42641480	SK-N-MC	brain:	n/a
12	chr10:42607194-42607244	SAEC	small airway:	n/a
13	chr10:42607695-42607745	ProgFib	skin:	n/a
14	chr10:42607695-42607745	LNCaP	prostate:	n/a
15	chr10:42644887-42644937	HMEC	breast:	n/a
16	chr10:42642959-42643009	SK-N-SH_RA	brain:	n/a
17	chr10:42633181-42633231	HRE	kidney:	n/a
18	chr10:42641430-42641480	GM12878	blood:	n/a
19	chr10:42642959-42643009	SK-N-MC	brain:	n/a
20	chr10:42642959-42643009	HRCEpiC	kidney:	n/a
21	chr10:42633181-42633231	GM12892	blood:	n/a
22	chr10:42644887-42644937	K562	blood:	n/a
23	chr10:42644887-42644937	HIPEpiC	eye:	n/a
24	chr10:42644887-42644937	Hepatocyte	liver:	n/a
25	chr10:42607695-42607745	SKMC	muscle:	n/a
26	chr10:42608749-42608799	HCM	heart:	n/a
27	chr10:42633559-42633609	GM12892	blood:	n/a
28	chr10:42633181-42633231	PrEC	prostate:	n/a
29	chr10:42645466-42645516	GM06990	blood:	n/a
30	chr10:42649823-42649873	PANC-1	pancreas:	n/a
31	chr10:42646111-42646161	IMR90	lung:	fetal
32	chr10:42606808-42606858	Jurkat	blood:	n/a
33	chr10:42607695-42607745	MCF-7	breast:	n/a
34	chr10:42608749-42608799	U87	brain:	n/a
35	chr10:42644887-42644937	MCF10A-Er-Src	breast:	n/a
36	chr10:42633181-42633231	HIPEpiC	eye:	n/a
37	chr10:42645466-42645516	NHBE	bronchial:	n/a
38	chr10:42641430-42641480	HRCEpiC	kidney:	n/a
39	chr10:42633559-42633609	HCF	heart:	n/a
40	chr10:42608749-42608799	SK-N-SH_RA	brain:	n/a
41	chr10:42633181-42633231	SKMC	muscle:	n/a
42	chr10:42606808-42606858	SK-N-SH	brain:	n/a
43	chr10:42646111-42646161	SAEC	small airway:	n/a
44	chr10:42633559-42633609	GM19239	blood:	n/a
45	chr10:42633559-42633609	HRE	kidney:	n/a
46	chr10:42633559-42633609	NH-A	brain:	n/a
47	chr10:42608749-42608799	HepG2	liver:	n/a
48	chr10:42641430-42641480	GM12891	blood:	n/a
49	chr10:42607695-42607745	K562	blood:	n/a
50	chr10:42645466-42645516	SKMC	muscle:	n/a

No data

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

Extended variants
information (count: 4581 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:4581 , 50 per page) page: 1 2 3 4 5 6 7 ... 92

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150054947	chr10:42599639-42599640	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145203825	chr10:42599640-42599641	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142322765	chr10:42599641-42599642	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146562919	chr10:42599643-42599644	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139135551	chr10:42599644-42599645	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs60506359	chr10:42599645-42599646	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145925166	chr10:42599646-42599647	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149027666	chr10:42599647-42599648	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141369534	chr10:42599648-42599649	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150788548	chr10:42599650-42599651	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs137914544	chr10:42599651-42599652	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142300103	chr10:42599652-42599653	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145981593	chr10:42599653-42599654	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139858221	chr10:42599662-42599663	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1134535	chr10:42599664-42599665	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561063071	chr10:42599665-42599666	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529888642	chr10:42599666-42599667	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144798889	chr10:42599667-42599668	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148551555	chr10:42599668-42599669	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549957277	chr10:42599670-42599671	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142981268	chr10:42599672-42599673	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs151104599	chr10:42599680-42599681	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569605466	chr10:42599681-42599682	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142375313	chr10:42599685-42599686	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144607273	chr10:42599687-42599688	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147912140	chr10:42599688-42599689	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141625148	chr10:42599690-42599691	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150421483	chr10:42599691-42599692	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145572522	chr10:42599694-42599695	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148865917	chr10:42599696-42599697	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143604431	chr10:42599697-42599698	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs57946756	chr10:42599702-42599703	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551739328	chr10:42599705-42599706	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142389618	chr10:42599707-42599708	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs55963846	chr10:42599708-42599709	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565364064	chr10:42599713-42599714	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7478278	chr10:42599717-42599718	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201993873	chr10:42599718-42599719	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138514754	chr10:42599722-42599723	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7475950	chr10:42599725-42599726	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534218680	chr10:42599728-42599729	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150734877	chr10:42599733-42599734	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113426781	chr10:42599734-42599735	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143204058	chr10:42599736-42599737	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149614523	chr10:42599738-42599739	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144410949	chr10:42599739-42599740	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141003136	chr10:42599740-42599741	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144644432	chr10:42599741-42599742	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147882048	chr10:42599742-42599743	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139833355	chr10:42599743-42599744	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
small cell lung cancer	20016488	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

Chromatin state (count:273 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:42596600-42600200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:42596600-42600200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:42596600-42600200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
4	chr10:42596600-42600200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
5	chr10:42596600-42600200	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
6	chr10:42596600-42600200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr10:42596600-42600200	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
8	chr10:42596600-42600200	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
9	chr10:42596600-42600200	ZNF genes & repeats	Aorta	Aorta
10	chr10:42596600-42600200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
11	chr10:42596600-42600200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
12	chr10:42596600-42600200	ZNF genes & repeats	Colonic Mucosa	Colon
13	chr10:42596600-42600200	ZNF genes & repeats	Colon Smooth Muscle	Colon
14	chr10:42596600-42600200	ZNF genes & repeats	Placenta	Placenta
15	chr10:42596600-42600200	ZNF genes & repeats	Fetal Stomach	stomach
16	chr10:42596600-42600200	ZNF genes & repeats	Small Intestine	intestine
17	chr10:42596600-42600200	ZNF genes & repeats	Stomach Mucosa	stomach
18	chr10:42596600-42600200	ZNF genes & repeats	Spleen	Spleen
19	chr10:42596600-42600200	ZNF genes & repeats	HSMMtube	muscle
20	chr10:42596600-42600200	ZNF genes & repeats	Osteobl	bone
21	chr10:42596600-42600400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr10:42596600-42600400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr10:42596600-42600400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
24	chr10:42596600-42600400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
25	chr10:42596600-42600400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
26	chr10:42596600-42600400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
27	chr10:42596600-42600400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
28	chr10:42596600-42600400	ZNF genes & repeats	Brain Anterior Caudate	brain
29	chr10:42596600-42600400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
30	chr10:42596600-42600400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
31	chr10:42596600-42600400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
32	chr10:42596600-42600400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
33	chr10:42596600-42600400	ZNF genes & repeats	Stomach Smooth Muscle	stomach
34	chr10:42596600-42600400	ZNF genes & repeats	GM12878-XiMat	blood
35	chr10:42596600-42600400	ZNF genes & repeats	Hela-S3	cervix
36	chr10:42596600-42600400	ZNF genes & repeats	NH-A	brain
37	chr10:42596600-42600600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
38	chr10:42596600-42600600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
39	chr10:42596600-42600600	ZNF genes & repeats	Primary B cells from cord blood	blood
40	chr10:42596600-42600600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
41	chr10:42596600-42600600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
42	chr10:42596600-42600600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
43	chr10:42596600-42600600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr10:42596600-42600600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr10:42596600-42600600	ZNF genes & repeats	Rectal Smooth Muscle	rectum
46	chr10:42596600-42600800	ZNF genes & repeats	HUVEC	blood vessel
47	chr10:42596600-42601400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr10:42596600-42601400	ZNF genes & repeats	HMEC	breast
49	chr10:42596600-42601600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
50	chr10:42596600-42601600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--

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