Variant report

Variant	nsv1002176
Chromosome Location	chr4:10139047-10149669
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	BHLHE40	chr4:10142964-10143314	K562	blood:	n/a	n/a
2	CHD2	chr4:10143239-10143269	K562	blood:	n/a	n/a
3	CHD2	chr4:10142301-10142459	HepG2	liver:	n/a	n/a
4	CTCF	chr4:10143100-10143250	HCFaa	heart:	n/a	chr4:10143232-10143241 chr4:10143229-10143247
5	CTCF	chr4:10146160-10146310	GM12864	blood:	n/a	n/a
6	CTCF	chr4:10143220-10143370	BE2_C	brain:	n/a	chr4:10143232-10143241 chr4:10143229-10143247
7	CTCF	chr4:10143080-10143230	GM12866	blood:	n/a	n/a
8	CTCF	chr4:10143060-10143210	GM12871	blood:	n/a	n/a
9	CTCF	chr4:10142737-10143429	K562	blood:	n/a	chr4:10143232-10143241 chr4:10143229-10143247 chr4:10142953-10142962
10	CTCF	chr4:10143120-10143270	HMEC	breast:	n/a	chr4:10143232-10143241 chr4:10143229-10143247
11	CTCF	chr4:10142700-10142850	BJ	skin:	n/a	n/a
12	CTCF	chr4:10146260-10146410	HBMEC	blood vessel:	n/a	n/a
13	CTCF	chr4:10142560-10143448	H1-hESC	embryonic stem cell:	n/a	chr4:10143232-10143241 chr4:10143229-10143247 chr4:10142953-10142962
14	CTCF	chr4:10146200-10146350	GM12872	blood:	n/a	n/a
15	CTCF	chr4:10143120-10143270	HBMEC	blood vessel:	n/a	chr4:10143232-10143241 chr4:10143229-10143247
16	CTCF	chr4:10143160-10143310	GM12864	blood:	n/a	chr4:10143232-10143241 chr4:10143229-10143247
17	CTCF	chr4:10143120-10143270	HEK293	kidney:	n/a	chr4:10143232-10143241 chr4:10143229-10143247
18	CTCF	chr4:10146240-10146390	HCFaa	heart:	n/a	n/a
19	CTCF	chr4:10143140-10143290	GM12864	blood:	n/a	chr4:10143232-10143241 chr4:10143229-10143247
20	CTCF	chr4:10143160-10143310	HepG2	liver:	n/a	chr4:10143232-10143241 chr4:10143229-10143247
21	CTCF	chr4:10143200-10143350	HRPEpiC	eye:	n/a	chr4:10143232-10143241 chr4:10143229-10143247
22	CTCF	chr4:10143160-10143310	GM12873	blood:	n/a	chr4:10143232-10143241 chr4:10143229-10143247
23	CTCF	chr4:10142600-10142750	GM06990	blood:	n/a	n/a
24	CTCF	chr4:10143200-10143350	GM12864	blood:	n/a	chr4:10143232-10143241 chr4:10143229-10143247
25	CTCF	chr4:10142518-10143454	H1-hESC	embryonic stem cell:	n/a	chr4:10143232-10143241 chr4:10143229-10143247 chr4:10142953-10142962
26	CTCF	chr4:10143140-10143290	WERI-Rb-1	eye:	n/a	chr4:10143232-10143241 chr4:10143229-10143247
27	CTCF	chr4:10143180-10143330	MCF-7	breast:	n/a	chr4:10143232-10143241 chr4:10143229-10143247
28	CTCF	chr4:10143260-10143410	RPTEC	kidney:	n/a	n/a
29	CTCF	chr4:10143280-10143430	HCT-116	colon:	n/a	n/a
30	CTCF	chr4:10142640-10142790	HEK293	kidney:	n/a	n/a
31	CTCF	chr4:10142808-10143435	K562	blood:	n/a	chr4:10143232-10143241 chr4:10143229-10143247 chr4:10142953-10142962
32	CTCF	chr4:10142680-10142830	GM12873	blood:	n/a	n/a
33	CTCF	chr4:10146200-10146350	HEK293	kidney:	n/a	n/a
34	CTCF	chr4:10142640-10142790	HepG2	liver:	n/a	n/a
35	CTCF	chr4:10143180-10143330	HEEpiC	esophagus:	n/a	chr4:10143232-10143241 chr4:10143229-10143247
36	CTCF	chr4:10143186-10143191	GM10266	blood:	n/a	n/a
37	CTCF	chr4:10142600-10142750	NHEK	skin:	n/a	n/a
38	CTCF	chr4:10143160-10143310	GM12872	blood:	n/a	chr4:10143232-10143241 chr4:10143229-10143247
39	CTCF	chr4:10142620-10142770	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr4:10146180-10146330	GM12864	blood:	n/a	n/a
41	CTCF	chr4:10143200-10143350	GM12870	blood:	n/a	chr4:10143232-10143241 chr4:10143229-10143247
42	CTCF	chr4:10143240-10143390	K562	blood:	n/a	n/a
43	CTCF	chr4:10142600-10142750	K562	blood:	n/a	n/a
44	CTCF	chr4:10146080-10146370	GM12866	blood:	n/a	n/a
45	CTCF	chr4:10143193-10143253	GM10266	blood:	n/a	chr4:10143232-10143241 chr4:10143229-10143247
46	CTCF	chr4:10143140-10143290	NB4	blood:	n/a	chr4:10143232-10143241 chr4:10143229-10143247
47	CTCF	chr4:10143120-10143270	Hela-S3	cervix:	n/a	chr4:10143232-10143241 chr4:10143229-10143247
48	CTCF	chr4:10143180-10143330	HEK293	kidney:	n/a	chr4:10143232-10143241 chr4:10143229-10143247
49	CTCF	chr4:10146140-10146290	RPTEC	kidney:	n/a	n/a
50	CTCF	chr4:10143160-10143310	SK-N-SH_RA	brain:	n/a	chr4:10143232-10143241 chr4:10143229-10143247

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:10147606-10147656	HL-60	blood:	n/a
2	chr4:10147038-10147088	NT2-D1	testis:	n/a
3	chr4:10147606-10147656	HL-60	blood:	n/a
4	chr4:10147038-10147088	NT2-D1	testis:	n/a
5	chr4:10147038-10147088	AG09319	gingival:	n/a
6	chr4:10147330-10147380	U87	brain:	n/a
7	chr4:10147100-10147150	HEEpiC	esophagus:	n/a
8	chr4:10147302-10147352	MCF10A-Er-Src	breast:	n/a
9	chr4:10147302-10147352	AG04450	lung:	fetal
10	chr4:10147330-10147380	HIPEpiC	eye:	n/a
11	chr4:10147606-10147656	HEEpiC	esophagus:	n/a
12	chr4:10147038-10147088	A549	lung:	n/a
13	chr4:10145483-10145533	GM19239	blood:	n/a
14	chr4:10147100-10147150	HPAEpiC	pulmonary alveolar:	n/a
15	chr4:10143053-10143103	HRCEpiC	kidney:	n/a
16	chr4:10147302-10147352	ProgFib	skin:	n/a
17	chr4:10147100-10147150	MCF-7	breast:	n/a
18	chr4:10147330-10147380	SAEC	small airway:	n/a
19	chr4:10147330-10147380	GM19239	blood:	n/a
20	chr4:10143053-10143103	GM12891	blood:	n/a
21	chr4:10145483-10145533	AG04450	lung:	fetal
22	chr4:10147038-10147088	HMEC	breast:	n/a
23	chr4:10147606-10147656	HIPEpiC	eye:	n/a
24	chr4:10147606-10147656	HRCEpiC	kidney:	n/a
25	chr4:10147038-10147088	HCPEpiC	choroid plexus:	n/a
26	chr4:10147302-10147352	SK-N-MC	brain:	n/a
27	chr4:10143053-10143103	GM19239	blood:	n/a
28	chr4:10147606-10147656	SK-N-MC	brain:	n/a
29	chr4:10147038-10147088	RPTEC	kidney:	n/a
30	chr4:10147038-10147088	MCF10A-Er-Src	breast:	n/a
31	chr4:10147100-10147150	NHDF-neo	bronchial:	n/a
32	chr4:10147100-10147150	PANC-1	pancreas:	n/a
33	chr4:10147302-10147352	NHDF-neo	bronchial:	n/a
34	chr4:10147606-10147656	Hela-S3	cervix:	n/a
35	chr4:10147302-10147352	SK-N-SH	brain:	n/a
36	chr4:10147038-10147088	NHDF-neo	bronchial:	n/a
37	chr4:10147606-10147656	U87	brain:	n/a
38	chr4:10143053-10143103	HUVEC	blood vessel:	n/a
39	chr4:10147100-10147150	NH-A	brain:	n/a
40	chr4:10147100-10147150	HCF	heart:	n/a
41	chr4:10147038-10147088	SK-N-SH_RA	brain:	n/a
42	chr4:10147302-10147352	ECC-1	luminal epithelium:	n/a
43	chr4:10145483-10145533	NT2-D1	testis:	n/a
44	chr4:10147330-10147380	IMR90	lung:	fetal
45	chr4:10147606-10147656	HMEC	breast:	n/a
46	chr4:10147038-10147088	AoSMC	blood vessel:	n/a
47	chr4:10147606-10147656	HUVEC	blood vessel:	n/a
48	chr4:10147302-10147352	HUVEC	blood vessel:	n/a
49	chr4:10147302-10147352	HNPCEpiC	eye:	n/a
50	chr4:10143053-10143103	ovcar-3	ovarian:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:10141623..10144820-chr4:10145857..10148531,3	K562	blood:
2	chr4:10117985..10121218-chr4:10149186..10152668,4	MCF-7	breast:
3	chr4:10117694..10121179-chr4:10148695..10151564,3	MCF-7	breast:
4	chr4:10138009..10140287-chr4:10142395..10145088,2	MCF-7	breast:
5	chr4:10117300..10124855-chr4:10138380..10145377,13	MCF-7	breast:
6	chr4:10138009..10140287-chr4:10142395..10145088,2	MCF-7	breast:
7	chr4:10142152..10144542-chr4:10456013..10458159,2	K562	blood:
8	chr4:10137227..10139603-chr4:10183343..10185587,3	K562	blood:
9	chr4:10110208..10112839-chr4:10141638..10144449,2	MCF-7	breast:
10	chr4:10142468..10145387-chr4:10146611..10148310,2	MCF-7	breast:
11	chr4:10141623..10144820-chr4:10145857..10148531,3	K562	blood:
12	chr4:10146309..10149123-chr4:10156130..10158993,2	K562	blood:
13	chr4:10140012..10142690-chr4:10152544..10154199,2	K562	blood:
14	chr4:10118040..10120090-chr4:10149414..10151081,2	K562	blood:
15	chr4:10147647..10149912-chr4:10150747..10153139,2	K562	blood:
16	chr4:10147623..10149514-chr4:10156130..10157999,2	K562	blood:
17	chr4:10140841..10143166-chr4:10164924..10167000,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WDR1-2	chr4:10144991-10145279	NONHSAT095429

Variant related genes	Relation type
ENSG00000250393	TF binding region
ENSG00000250393	CpG island
ENSG00000071127	chromatin interactions
ENSG00000223086	chromatin interactions
ENSG00000250393	chromatin interactions

Extended variants
information (count: 1028 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1028 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10939722	chr4:10139047-10139048	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545094857	chr4:10139072-10139073	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs6830075	chr4:10139073-10139074	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs34345050	chr4:10139075-10139076	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs150848197	chr4:10139091-10139092	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs12646146	chr4:10139095-10139096	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs552720039	chr4:10139101-10139102	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs527765725	chr4:10139104-10139105	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs10939723	chr4:10139105-10139106	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs570640874	chr4:10139107-10139108	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs113738495	chr4:10139110-10139111	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs548881947	chr4:10139123-10139124	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs116728798	chr4:10139136-10139137	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs17198197	chr4:10139157-10139158	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs565880986	chr4:10139166-10139167	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs536338366	chr4:10139176-10139177	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs554554083	chr4:10139178-10139179	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs575982226	chr4:10139181-10139182	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs537772049	chr4:10139182-10139183	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs558953414	chr4:10139186-10139187	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs55851451	chr4:10139189-10139190	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs4697711	chr4:10139191-10139192	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs553603902	chr4:10139193-10139194	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs376863567	chr4:10139196-10139197	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs574593724	chr4:10139253-10139254	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs185120588	chr4:10139256-10139257	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs571474814	chr4:10139263-10139264	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs562030618	chr4:10139274-10139275	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs561282253	chr4:10139275-10139276	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs532100895	chr4:10139277-10139278	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs541897078	chr4:10139283-10139284	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs35923340	chr4:10139290-10139291	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs572182266	chr4:10139292-10139293	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs563292514	chr4:10139299-10139300	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs529536681	chr4:10139309-10139310	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs139332233	chr4:10139312-10139313	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs4697712	chr4:10139316-10139317	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs77968783	chr4:10139336-10139337	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs535936725	chr4:10139344-10139345	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs4697927	chr4:10139355-10139356	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs372014086	chr4:10139363-10139364	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs567876072	chr4:10139375-10139376	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs530137434	chr4:10139376-10139377	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs74655761	chr4:10139392-10139393	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs567479590	chr4:10139395-10139396	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs538056585	chr4:10139399-10139400	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs191060610	chr4:10139402-10139403	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs375280149	chr4:10139409-10139410	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs546832382	chr4:10139420-10139421	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs537087233	chr4:10139424-10139425	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10142400-10142800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:10142600-10142800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr4:10142600-10143000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:10142600-10143200	Enhancers	Fetal Thymus	thymus
5	chr4:10142800-10143000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr4:10142800-10143200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr4:10142800-10143200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr4:10142800-10143200	Enhancers	H9 Cell Line	embryonic stem cell
9	chr4:10142800-10143200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr4:10142800-10143200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
11	chr4:10142800-10151800	Weak transcription	Spleen	Spleen
12	chr4:10143000-10143200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:10143000-10143200	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr4:10143000-10143200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:10143000-10143200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:10143200-10143600	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr4:10143200-10149800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:10146200-10147000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:10146400-10146800	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr4:10146400-10147000	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr4:10146400-10147000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:10146400-10147600	Enhancers	Primary B cells from peripheral blood	blood
23	chr4:10146600-10147200	Bivalent Enhancer	Primary B cells from cord blood	blood

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