Variant report

Variant	nsv550616
Chromosome Location	chr10:42533318-42667035
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2082)
CpG islands
(count:733)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2082 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

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	ARID3A	chr10:42597838-42598531	K562	blood:	n/a	n/a
3	ARID3A	chr10:42597406-42597416	K562	blood:	n/a	n/a
4	ARID3A	chr10:42535480-42535514	HepG2	liver:	n/a	n/a
5	ATF1	chr10:42539003-42539017	K562	blood:	n/a	n/a
6	ATF1	chr10:42535479-42535678	K562	blood:	n/a	n/a
7	ATF1	chr10:42599330-42600242	K562	blood:	n/a	n/a
8	ATF1	chr10:42597833-42598535	K562	blood:	n/a	n/a
9	ATF1	chr10:42534553-42534934	K562	blood:	n/a	n/a
10	ATF1	chr10:42539718-42539917	K562	blood:	n/a	n/a
11	BACH1	chr10:42599263-42600248	K562	blood:	n/a	n/a
12	BACH1	chr10:42597763-42598620	K562	blood:	n/a	n/a
13	BATF	chr10:42643277-42643477	GM12878	blood:	n/a	n/a
14	BATF	chr10:42610090-42610374	GM12878	blood:	n/a	n/a
15	BATF	chr10:42596622-42600748	GM12878	blood:	n/a	n/a
16	BATF	chr10:42611144-42611526	GM12878	blood:	n/a	n/a
17	BATF	chr10:42648710-42649578	GM12878	blood:	n/a	n/a
18	BATF	chr10:42650381-42650675	GM12878	blood:	n/a	chr10:42650535-42650546
19	BATF	chr10:42610545-42610776	GM12878	blood:	n/a	n/a
20	BATF	chr10:42612767-42613144	GM12878	blood:	n/a	n/a
21	BATF	chr10:42647665-42647940	GM12878	blood:	n/a	n/a
22	BATF	chr10:42663387-42664486	GM12878	blood:	n/a	n/a
23	BATF	chr10:42614232-42614528	GM12878	blood:	n/a	n/a
24	BATF	chr10:42601164-42601564	GM12878	blood:	n/a	n/a
25	BATF	chr10:42666306-42667023	GM12878	blood:	n/a	n/a
26	BATF	chr10:42611063-42611437	GM12878	blood:	n/a	n/a
27	BATF	chr10:42666434-42667002	GM12878	blood:	n/a	n/a
28	BATF	chr10:42614296-42614594	GM12878	blood:	n/a	n/a
29	BATF	chr10:42662289-42662960	GM12878	blood:	n/a	n/a
30	BATF	chr10:42610777-42611041	GM12878	blood:	n/a	n/a
31	BATF	chr10:42651843-42652346	GM12878	blood:	n/a	n/a
32	BATF	chr10:42600759-42601656	GM12878	blood:	n/a	n/a
33	BATF	chr10:42648356-42648599	GM12878	blood:	n/a	n/a
34	BATF	chr10:42531702-42546600	GM12878	blood:	n/a	n/a
35	BATF	chr10:42527163-42546716	GM12878	blood:	n/a	n/a
36	BATF	chr10:42643179-42643456	GM12878	blood:	n/a	n/a
37	BATF	chr10:42648114-42648316	GM12878	blood:	n/a	n/a
38	BATF	chr10:42661279-42666179	GM12878	blood:	n/a	chr10:42665305-42665316
39	BATF	chr10:42650167-42650682	GM12878	blood:	n/a	chr10:42650535-42650546
40	BATF	chr10:42651846-42652170	GM12878	blood:	n/a	n/a
41	BATF	chr10:42611560-42611800	GM12878	blood:	n/a	n/a
42	BATF	chr10:42596620-42600732	GM12878	blood:	n/a	n/a
43	BATF	chr10:42648769-42649302	GM12878	blood:	n/a	n/a
44	BATF	chr10:42648105-42648599	GM12878	blood:	n/a	n/a
45	BATF	chr10:42647658-42648038	GM12878	blood:	n/a	n/a
46	BATF	chr10:42664499-42666109	GM12878	blood:	n/a	chr10:42665305-42665316
47	BATF	chr10:42661385-42662259	GM12878	blood:	n/a	n/a
48	BCL11A	chr10:42648959-42649302	GM12878	blood:	n/a	n/a
49	BCL11A	chr10:42666418-42667036	GM12878	blood:	n/a	n/a
50	BCL11A	chr10:42664523-42666119	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	chr10:42606808-42606858	HMEC	breast:	n/a
2	chr10:42606808-42606858	HMEC	breast:	n/a
3	chr10:42606808-42606858	MCF-7	breast:	n/a
4	chr10:42649823-42649873	GM12891	blood:	n/a
5	chr10:42607695-42607745	HL-60	blood:	n/a
6	chr10:42644887-42644937	HMEC	breast:	n/a
7	chr10:42649823-42649873	PrEC	prostate:	n/a
8	chr10:42607695-42607745	AG04450	lung:	fetal
9	chr10:42645466-42645516	AG09309	skin:	n/a
10	chr10:42607695-42607745	Hela-S3	cervix:	n/a
11	chr10:42633181-42633231	HIPEpiC	eye:	n/a
12	chr10:42607695-42607745	BJ	skin:	n/a
13	chr10:42644887-42644937	SK-N-SH_RA	brain:	n/a
14	chr10:42608749-42608799	NHBE	bronchial:	n/a
15	chr10:42645466-42645516	MCF-7	breast:	n/a
16	chr10:42646111-42646161	MCF-7	breast:	n/a
17	chr10:42641430-42641480	HRPEpiC	eye:	n/a
18	chr10:42633559-42633609	RPTEC	kidney:	n/a
19	chr10:42646111-42646161	SK-N-SH	brain:	n/a
20	chr10:42633181-42633231	IMR90	lung:	fetal
21	chr10:42633559-42633609	NHBE	bronchial:	n/a
22	chr10:42649823-42649873	NH-A	brain:	n/a
23	chr10:42607194-42607244	BE2_C	brain:	n/a
24	chr10:42642959-42643009	GM19239	blood:	n/a
25	chr10:42646111-42646161	BJ	skin:	n/a
26	chr10:42607194-42607244	IMR90	lung:	fetal
27	chr10:42646111-42646161	HNPCEpiC	eye:	n/a
28	chr10:42608749-42608799	PrEC	prostate:	n/a
29	chr10:42641430-42641480	BE2_C	brain:	n/a
30	chr10:42642959-42643009	HAEpiC	amniotic membrane:	n/a
31	chr10:42606808-42606858	HUVEC	blood vessel:	n/a
32	chr10:42646111-42646161	GM19239	blood:	n/a
33	chr10:42607194-42607244	CMK	blood:	n/a
34	chr10:42641430-42641480	HAEpiC	amniotic membrane:	n/a
35	chr10:42646111-42646161	HPAEpiC	pulmonary alveolar:	n/a
36	chr10:42649823-42649873	PFSK-1	brain:	n/a
37	chr10:42607695-42607745	NHBE	bronchial:	n/a
38	chr10:42649823-42649873	HCT-116	colon:	n/a
39	chr10:42642959-42643009	SK-N-SH_RA	brain:	n/a
40	chr10:42607695-42607745	AoSMC	blood vessel:	n/a
41	chr10:42608749-42608799	HCPEpiC	choroid plexus:	n/a
42	chr10:42646111-42646161	T-47D	breast:	n/a
43	chr10:42633559-42633609	GM19239	blood:	n/a
44	chr10:42607194-42607244	SK-N-SH_RA	brain:	n/a
45	chr10:42645466-42645516	Jurkat	blood:	n/a
46	chr10:42641430-42641480	NH-A	brain:	n/a
47	chr10:42649823-42649873	A549	lung:	n/a
48	chr10:42641430-42641480	SKMC	muscle:	n/a
49	chr10:42644887-42644937	BJ	skin:	n/a
50	chr10:42606808-42606858	A549	lung:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:121482971..121485434-chr10:42543133..42544641,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCNYL2-9	chr10:42598751-42598801	NONHSAT012853
2	lnc-CCNYL2-9	chr10:42596697-42596905	NONHSAT012853

No data

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

Extended variants
information (count: 8048 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:8048 , 50 per page) page: 1 2 3 4 5 6 7 ... 161

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1916122	chr10:42533318-42533319	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs74212583	chr10:42533321-42533322	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs78884429	chr10:42533323-42533324	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs373542003	chr10:42533325-42533326	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs75019074	chr10:42533326-42533327	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs74879158	chr10:42533333-42533334	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs368724668	chr10:42533335-42533336	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs555822856	chr10:42533336-42533337	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs74220708	chr10:42533338-42533339	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs36148229	chr10:42533339-42533340	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs575610815	chr10:42533340-42533341	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs538342168	chr10:42533341-42533342	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs78330181	chr10:42533347-42533348	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs398088924	chr10:42533348-42533349	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs61845452	chr10:42533353-42533354	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs201204069	chr10:42533355-42533356	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs79754573	chr10:42533359-42533360	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs71243911	chr10:42533360-42533361	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs61845453	chr10:42533361-42533362	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs112867662	chr10:42533362-42533363	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs74188032	chr10:42533365-42533366	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs71245741	chr10:42533367-42533368	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs76633584	chr10:42533368-42533369	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs61845454	chr10:42533369-42533370	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs79827672	chr10:42533370-42533371	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs4112738	chr10:42533371-42533372	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs540121262	chr10:42533373-42533374	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs560044358	chr10:42533375-42533376	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs573778272	chr10:42533377-42533378	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs61845455	chr10:42533378-42533379	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs71243910	chr10:42533384-42533385	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs79936879	chr10:42533386-42533387	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs71189023	chr10:42533393-42533394	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs74189158	chr10:42533395-42533396	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs376383938	chr10:42533396-42533397	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs71237474	chr10:42533397-42533398	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs200358242	chr10:42533399-42533400	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs74222557	chr10:42533402-42533403	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs67208070	chr10:42533404-42533405	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs547289853	chr10:42533405-42533406	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs76997944	chr10:42533414-42533415	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs71303664	chr10:42533415-42533416	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs74186184	chr10:42533416-42533417	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs36141420	chr10:42533417-42533418	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs71243121	chr10:42533418-42533419	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs76529110	chr10:42533423-42533424	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs61845457	chr10:42533425-42533426	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs567097801	chr10:42533427-42533428	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs536157205	chr10:42533429-42533430	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs549265829	chr10:42533432-42533433	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	20531469	CNVD

Chromatin state (count:976 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:42525800-42533600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
2	chr10:42527000-42533600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr10:42527200-42533400	ZNF genes & repeats	Psoas Muscle	Psoas
4	chr10:42527200-42533600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr10:42529200-42533600	ZNF genes & repeats	Small Intestine	intestine
6	chr10:42530800-42533600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
7	chr10:42531800-42533400	ZNF genes & repeats	HepG2	liver
8	chr10:42532800-42534600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr10:42532800-42534600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr10:42532800-42534600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr10:42532800-42534600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr10:42532800-42534600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr10:42532800-42534600	Weak transcription	Brain Angular Gyrus	brain
14	chr10:42532800-42534600	Weak transcription	Esophagus	oesophagus
15	chr10:42532800-42534600	Weak transcription	Fetal Kidney	kidney
16	chr10:42532800-42534600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr10:42532800-42534600	Weak transcription	Right Ventricle	heart
18	chr10:42532800-42534600	Weak transcription	Thymus	Thymus
19	chr10:42532800-42534600	Weak transcription	Spleen	Spleen
20	chr10:42532800-42534600	Weak transcription	GM12878-XiMat	blood
21	chr10:42532800-42534600	Weak transcription	NHEK	skin
22	chr10:42532800-42534600	Weak transcription	Osteobl	bone
23	chr10:42533000-42534600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr10:42533000-42534600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr10:42533000-42534600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr10:42533000-42534600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr10:42533000-42534600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr10:42533000-42534600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr10:42533000-42534600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr10:42533000-42534600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr10:42533000-42534600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr10:42533000-42534600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr10:42533000-42534600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr10:42533000-42534600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr10:42533000-42534600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr10:42533000-42534600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr10:42533000-42534600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr10:42533000-42534600	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr10:42533000-42534600	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr10:42533000-42534600	Weak transcription	Primary B cells from peripheral blood	blood
41	chr10:42533000-42534600	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr10:42533000-42534600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr10:42533000-42534600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr10:42533000-42534600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr10:42533000-42534600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr10:42533000-42534600	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr10:42533000-42534600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr10:42533000-42534600	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr10:42533000-42534600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr10:42533000-42534600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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