Variant report

Variant	nsv948296
Chromosome Location	chr10:42642147-42648708
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:194)
CpG islands
(count:244)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:194 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr10:42643179-42643456	GM12878	blood:	n/a	n/a
2	BATF	chr10:42648356-42648599	GM12878	blood:	n/a	n/a
3	BATF	chr10:42648105-42648599	GM12878	blood:	n/a	n/a
4	BATF	chr10:42648114-42648316	GM12878	blood:	n/a	n/a
5	BATF	chr10:42643277-42643477	GM12878	blood:	n/a	n/a
6	BATF	chr10:42647658-42648038	GM12878	blood:	n/a	n/a
7	BATF	chr10:42647665-42647940	GM12878	blood:	n/a	n/a
8	BCL11A	chr10:42648402-42648579	GM12878	blood:	n/a	n/a
9	BCL11A	chr10:42647616-42648021	GM12878	blood:	n/a	n/a
10	BCL11A	chr10:42647046-42647301	GM12878	blood:	n/a	n/a
11	BCL11A	chr10:42648107-42648651	GM12878	blood:	n/a	n/a
12	BCL11A	chr10:42647671-42648027	GM12878	blood:	n/a	n/a
13	BCL11A	chr10:42648696-42648958	GM12878	blood:	n/a	n/a
14	BCL11A	chr10:42648101-42648339	GM12878	blood:	n/a	n/a
15	BHLHE40	chr10:42648084-42648293	HepG2	liver:	n/a	n/a
16	BHLHE40	chr10:42647458-42647722	HepG2	liver:	n/a	n/a
17	CTCF	chr10:42643580-42643730	GM12871	blood:	n/a	n/a
18	EBF1	chr10:42647600-42648019	GM12878	blood:	n/a	n/a
19	EBF1	chr10:42647664-42647968	GM12878	blood:	n/a	n/a
20	EBF1	chr10:42646996-42647288	GM12878	blood:	n/a	n/a
21	EBF1	chr10:42648132-42648368	GM12878	blood:	n/a	n/a
22	EBF1	chr10:42648616-42649692	GM12878	blood:	n/a	n/a
23	EBF1	chr10:42648116-42648581	GM12878	blood:	n/a	n/a
24	ELF1	chr10:42645170-42645537	GM12878	blood:	n/a	n/a
25	EP300	chr10:42648121-42648584	GM12878	blood:	n/a	n/a
26	EP300	chr10:42643195-42643508	GM12878	blood:	n/a	n/a
27	EP300	chr10:42647051-42647312	GM12878	blood:	n/a	n/a
28	EP300	chr10:42647682-42647863	GM12878	blood:	n/a	n/a
29	EP300	chr10:42648098-42649428	GM12878	blood:	n/a	n/a
30	EP300	chr10:42647538-42648048	GM12878	blood:	n/a	n/a
31	FOSL2	chr10:42643125-42643414	HepG2	liver:	n/a	n/a
32	FOSL2	chr10:42648124-42649334	HepG2	liver:	n/a	chr10:42648422-42648434
33	FOSL2	chr10:42647602-42648041	HepG2	liver:	n/a	n/a
34	FOSL2	chr10:42647616-42648046	HepG2	liver:	n/a	n/a
35	FOSL2	chr10:42643207-42643461	HepG2	liver:	n/a	n/a
36	FOSL2	chr10:42648103-42649443	HepG2	liver:	n/a	chr10:42648422-42648434
37	FOXA1	chr10:42647002-42647743	HepG2	liver:	n/a	n/a
38	FOXA1	chr10:42648061-42649396	HepG2	liver:	n/a	n/a
39	GABPA	chr10:42647704-42648006	Hela-S3	cervix:	n/a	n/a
40	GABPA	chr10:42643222-42643411	Hela-S3	cervix:	n/a	n/a
41	GABPA	chr10:42647605-42648033	Hela-S3	cervix:	n/a	n/a
42	GABPA	chr10:42648113-42649577	Hela-S3	cervix:	n/a	n/a
43	GABPA	chr10:42648389-42648570	Hela-S3	cervix:	n/a	n/a
44	GABPA	chr10:42648126-42648385	Hela-S3	cervix:	n/a	n/a
45	GATA2	chr10:42647328-42647575	K562	blood:	n/a	n/a
46	GATA2	chr10:42646799-42647320	K562	blood:	n/a	n/a
47	GATA2	chr10:42647576-42647825	K562	blood:	n/a	n/a
48	HEY1	chr10:42648086-42649251	K562	blood:	n/a	n/a
49	HEY1	chr10:42647688-42647895	HepG2	liver:	n/a	n/a
50	HEY1	chr10:42647681-42648046	K562	blood:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:42644887-42644937	U87	brain:	n/a
2	chr10:42646111-42646161	HepG2	liver:	n/a
3	chr10:42645466-42645516	ProgFib	skin:	n/a
4	chr10:42646111-42646161	PFSK-1	brain:	n/a
5	chr10:42646111-42646161	RPTEC	kidney:	n/a
6	chr10:42646111-42646161	NHBE	bronchial:	n/a
7	chr10:42644887-42644937	SK-N-MC	brain:	n/a
8	chr10:42646111-42646161	Caco-2	colon:	n/a
9	chr10:42646111-42646161	A549	lung:	n/a
10	chr10:42645466-42645516	HIPEpiC	eye:	n/a
11	chr10:42645466-42645516	HEK293	kidney:	embryo
12	chr10:42645466-42645516	HMEC	breast:	n/a
13	chr10:42645466-42645516	HCM	heart:	n/a
14	chr10:42646111-42646161	AG09309	skin:	n/a
15	chr10:42644887-42644937	NHBE	bronchial:	n/a
16	chr10:42642959-42643009	HEEpiC	esophagus:	n/a
17	chr10:42644887-42644937	HPAEpiC	pulmonary alveolar:	n/a
18	chr10:42645466-42645516	CMK	blood:	n/a
19	chr10:42644887-42644937	SAEC	small airway:	n/a
20	chr10:42644887-42644937	GM19239	blood:	n/a
21	chr10:42644887-42644937	LNCaP	prostate:	n/a
22	chr10:42642959-42643009	GM12891	blood:	n/a
23	chr10:42644887-42644937	NH-A	brain:	n/a
24	chr10:42644887-42644937	SK-N-SH	brain:	n/a
25	chr10:42644887-42644937	AG09309	skin:	n/a
26	chr10:42645466-42645516	GM12878	blood:	n/a
27	chr10:42646111-42646161	GM06990	blood:	n/a
28	chr10:42642959-42643009	HRCEpiC	kidney:	n/a
29	chr10:42644887-42644937	HCT-116	colon:	n/a
30	chr10:42644887-42644937	HRPEpiC	eye:	n/a
31	chr10:42645466-42645516	AG09309	skin:	n/a
32	chr10:42645466-42645516	NT2-D1	testis:	n/a
33	chr10:42642959-42643009	H1-hESC	embryonic stem cell:	embryo
34	chr10:42642959-42643009	K562	blood:	n/a
35	chr10:42646111-42646161	H1-hESC	embryonic stem cell:	embryo
36	chr10:42642959-42643009	HCF	heart:	n/a
37	chr10:42644887-42644937	ovcar-3	ovarian:	n/a
38	chr10:42644887-42644937	H1-hESC	embryonic stem cell:	embryo
39	chr10:42642959-42643009	HMEC	breast:	n/a
40	chr10:42644887-42644937	PrEC	prostate:	n/a
41	chr10:42646111-42646161	SK-N-MC	brain:	n/a
42	chr10:42642959-42643009	Hepatocyte	liver:	n/a
43	chr10:42644887-42644937	SKMC	muscle:	n/a
44	chr10:42644887-42644937	BE2_C	brain:	n/a
45	chr10:42642959-42643009	HCM	heart:	n/a
46	chr10:42646111-42646161	Hepatocyte	liver:	n/a
47	chr10:42646111-42646161	GM12892	blood:	n/a
48	chr10:42644887-42644937	T-47D	breast:	n/a
49	chr10:42646111-42646161	HUVEC	blood vessel:	n/a
50	chr10:42642959-42643009	Jurkat	blood:	n/a

No data

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

Extended variants
information (count: 879 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:879 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147144468	chr10:42642152-42642153	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs541443433	chr10:42642155-42642156	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs371754187	chr10:42642163-42642164	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs376154317	chr10:42642176-42642177	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs75160635	chr10:42642178-42642179	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs563194951	chr10:42642194-42642195	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs376773633	chr10:42642228-42642229	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371033796	chr10:42642233-42642234	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76943954	chr10:42642244-42642245	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150740707	chr10:42642245-42642246	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368016673	chr10:42642248-42642249	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368808475	chr10:42642259-42642260	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113389513	chr10:42642260-42642261	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373046681	chr10:42642262-42642263	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530430110	chr10:42642267-42642268	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111289922	chr10:42642306-42642307	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550159287	chr10:42642313-42642314	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564003977	chr10:42642331-42642332	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74505182	chr10:42642332-42642333	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35603900	chr10:42642338-42642339	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552788778	chr10:42642339-42642340	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10900247	chr10:42642344-42642345	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111988442	chr10:42642345-42642346	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199843295	chr10:42642351-42642352	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112119016	chr10:42642355-42642356	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190541959	chr10:42642360-42642361	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535086511	chr10:42642370-42642371	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548611838	chr10:42642391-42642392	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200139089	chr10:42642407-42642408	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201124437	chr10:42642414-42642415	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143509064	chr10:42642420-42642421	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537451433	chr10:42642421-42642422	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147286835	chr10:42642422-42642423	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77452134	chr10:42642432-42642433	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201347922	chr10:42642439-42642440	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557016906	chr10:42642444-42642445	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577053506	chr10:42642452-42642453	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539285487	chr10:42642460-42642461	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552724658	chr10:42642464-42642465	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79479299	chr10:42642465-42642466	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143510562	chr10:42642467-42642468	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113813166	chr10:42642469-42642470	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77619445	chr10:42642473-42642474	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541481992	chr10:42642474-42642475	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs202127927	chr10:42642478-42642479	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78095381	chr10:42642479-42642480	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561347432	chr10:42642484-42642485	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74982747	chr10:42642485-42642486	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144846769	chr10:42642495-42642496	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113310715	chr10:42642496-42642497	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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:42640000-42644600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr10:42640400-42642400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr10:42640400-42644800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr10:42640600-42646400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr10:42641000-42645400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr10:42641600-42643600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr10:42641800-42642200	Active TSS	Fetal Heart	heart
8	chr10:42643400-42645200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr10:42643400-42645800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
10	chr10:42643600-42645000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
11	chr10:42643600-42645200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
12	chr10:42643600-42646000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr10:42643600-42646000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr10:42643600-42646200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr10:42643800-42646400	ZNF genes & repeats	Fetal Stomach	stomach
16	chr10:42644000-42645400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
17	chr10:42644000-42646000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr10:42644000-42646600	ZNF genes & repeats	Adipose Nuclei	Adipose
19	chr10:42644200-42644600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
20	chr10:42644200-42644800	ZNF genes & repeats	Primary T cells from cord blood	blood
21	chr10:42644200-42645200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
22	chr10:42644200-42645400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
23	chr10:42644200-42645600	ZNF genes & repeats	Thymus	Thymus
24	chr10:42644200-42646000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
25	chr10:42644200-42646200	ZNF genes & repeats	Lung	lung
26	chr10:42644200-42646400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr10:42644400-42645400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr10:42644400-42645600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
29	chr10:42644400-42645800	ZNF genes & repeats	Colonic Mucosa	Colon
30	chr10:42644400-42645800	ZNF genes & repeats	Spleen	Spleen
31	chr10:42644400-42646600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr10:42644400-42646600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
33	chr10:42644400-42646600	ZNF genes & repeats	Pancreas	Pancrea
34	chr10:42644600-42645800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr10:42644600-42645800	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
36	chr10:42644600-42646000	ZNF genes & repeats	Ovary	ovary
37	chr10:42644800-42645200	Bivalent Enhancer	Placenta	Placenta
38	chr10:42644800-42646200	Active TSS	Primary T cells from cord blood	blood
39	chr10:42644800-42646400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
40	chr10:42645000-42645400	ZNF genes & repeats	HMEC	breast
41	chr10:42645000-42645800	Bivalent/Poised TSS	Right Ventricle	heart
42	chr10:42645000-42645800	Bivalent/Poised TSS	A549	lung
43	chr10:42645000-42646400	ZNF genes & repeats	Fetal Intestine Large	intestine
44	chr10:42645200-42645400	Flanking Bivalent TSS/Enh	Placenta	Placenta
45	chr10:42645200-42645800	ZNF genes & repeats	HUVEC	blood vessel
46	chr10:42645200-42646200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
47	chr10:42645200-42646200	Active TSS	Osteobl	bone
48	chr10:42645200-42646400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
49	chr10:42645400-42645600	Bivalent Enhancer	Placenta	Placenta
50	chr10:42645400-42645600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach

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