Variant report

Variant	nsv998266
Chromosome Location	chr4:10261175-10276467
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	CEBPB	chr4:10267288-10267523	A549	lung:	n/a	chr4:10267446-10267457
2	CEBPB	chr4:10267329-10267510	HepG2	liver:	n/a	chr4:10267446-10267457
3	CTCF	chr4:10262356-10262760	K562	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
4	CTCF	chr4:10262280-10262430	GM12871	blood:	n/a	n/a
5	CTCF	chr4:10267520-10267670	NHEK	skin:	n/a	chr4:10267591-10267599
6	CTCF	chr4:10262500-10262650	HEK293	kidney:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
7	CTCF	chr4:10262560-10262710	GM12864	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
8	CTCF	chr4:10262500-10262650	GM12873	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
9	CTCF	chr4:10262640-10262790	GM12872	blood:	n/a	n/a
10	CTCF	chr4:10262529-10262621	GM12878	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
11	CTCF	chr4:10262520-10262670	AG10803	skin:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
12	CTCF	chr4:10262415-10262691	K562	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
13	CTCF	chr4:10273284-10273382	K562	blood:	n/a	n/a
14	CTCF	chr4:10262580-10262730	HPAF	blood vessel:	n/a	n/a
15	CTCF	chr4:10262480-10262630	GM12870	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
16	CTCF	chr4:10273213-10273430	K562	blood:	n/a	n/a
17	CTCF	chr4:10262480-10262630	WERI-Rb-1	eye:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
18	CTCF	chr4:10262460-10262610	HepG2	liver:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
19	CTCF	chr4:10262551-10262623	H1-hESC	embryonic stem cell:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
20	CTCF	chr4:10262540-10262690	GM12871	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
21	CTCF	chr4:10262396-10262667	H1-hESC	embryonic stem cell:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
22	CTCF	chr4:10262453-10262662	HepG2	liver:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
23	CTCF	chr4:10262500-10262650	SAEC	small airway:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
24	CTCF	chr4:10262560-10262710	GM12872	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
25	CTCF	chr4:10262500-10262650	WERI-Rb-1	eye:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
26	CTCF	chr4:10266760-10266910	GM12867	blood:	n/a	n/a
27	CTCF	chr4:10262460-10262610	GM12872	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
28	CTCF	chr4:10262500-10262650	K562	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
29	CTCF	chr4:10262555-10262621	MCF-7	breast:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
30	CTCF	chr4:10262540-10262690	GM12873	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
31	CTCF	chr4:10262520-10262670	HCT-116	colon:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
32	CTCF	chr4:10262460-10262610	BJ	skin:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
33	CTCF	chr4:10262526-10262596	Spleen_OC	spleen:	n/a	chr4:10262578-10262587 chr4:10262575-10262593
34	CTCF	chr4:10262475-10262725	K562	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
35	CTCF	chr4:10262480-10262630	HCT-116	colon:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
36	CTCF	chr4:10262486-10262631	K562	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
37	CTCF	chr4:10262420-10262570	HRE	kidney:	n/a	n/a
38	CTCF	chr4:10262640-10262790	GM12869	blood:	n/a	n/a
39	CTCF	chr4:10262430-10262736	K562	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
40	CTCF	chr4:10262480-10262630	GM06990	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
41	CTCF	chr4:10262600-10262750	GM12873	blood:	n/a	n/a
42	CTCF	chr4:10262440-10262590	GM12874	blood:	n/a	chr4:10262578-10262587
43	CTCF	chr4:10262400-10262550	SAEC	small airway:	n/a	n/a
44	CTCF	chr4:10262600-10262750	HMEC	breast:	n/a	n/a
45	CTCF	chr4:10262529-10262642	GM19238	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
46	CTCF	chr4:10262528-10262612	GM19240	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
47	CTCF	chr4:10262536-10262669	GM12892	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
48	CTCF	chr4:10262521-10262640	GM12891	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
49	CTCF	chr4:10262532-10262673	NHEK	skin:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
50	CTCF	chr4:10262480-10262630	GM12878	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598

No.	Distal block	Cell Line	Cell type
1	chr4:10271663..10276718-chr4:10277557..10282432,8	K562	blood:
2	chr4:10257186..10261463-chr4:10263373..10268480,7	K562	blood:
3	chr4:10274788..10276860-chr4:10285063..10286717,2	K562	blood:
4	chr4:10266281..10269337-chr4:10269908..10272870,3	K562	blood:
5	chr4:10266886..10269236-chr4:10273082..10275523,2	K562	blood:
6	chr4:10255171..10260191-chr4:10262748..10268904,8	K562	blood:
7	chr4:10262775..10265010-chr4:10265780..10268025,2	K562	blood:
8	chr4:10181799..10184639-chr4:10262185..10264664,2	K562	blood:
9	chr4:10266886..10269236-chr4:10273082..10275523,2	K562	blood:
10	chr4:10262775..10265010-chr4:10265780..10268025,2	K562	blood:
11	chr4:10254361..10256671-chr4:10262474..10264248,2	K562	blood:
12	chr4:10271663..10274322-chr4:10278537..10280895,2	K562	blood:
13	chr4:10266281..10269337-chr4:10269908..10272870,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WDR1-11	chr4:10269519-10269855	NONHSAT095492
2	lnc-WDR1-10	chr4:10261069-10261762	NONHSAT095491

Variant related genes	Relation type
ENSG00000250040	TF binding region
ENSG00000250074	TF binding region
ENSG00000250573	TF binding region
ENSG00000250040	chromatin interactions

Extended variants
information (count: 1062 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:1062 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546872968	chr4:10261197-10261198	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs528816440	chr4:10261228-10261229	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs547289596	chr4:10261253-10261254	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs186818065	chr4:10261267-10261268	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs535661104	chr4:10261281-10261282	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs368507019	chr4:10261300-10261301	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs144754272	chr4:10261303-10261304	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs371484325	chr4:10261316-10261317	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs80059608	chr4:10261389-10261390	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs557356609	chr4:10261420-10261421	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs572486500	chr4:10261433-10261434	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs535391143	chr4:10261494-10261495	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs115029958	chr4:10261501-10261502	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs555233282	chr4:10261522-10261523	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs147818021	chr4:10261545-10261546	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs12505722	chr4:10261561-10261562	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs116459471	chr4:10261586-10261587	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs73222570	chr4:10261592-10261593	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs191240169	chr4:10261594-10261595	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs572484192	chr4:10261596-10261597	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs540488665	chr4:10261600-10261601	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs546290807	chr4:10261602-10261603	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs536446150	chr4:10261605-10261606	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs564497196	chr4:10261644-10261645	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs141381295	chr4:10261645-10261646	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs74431293	chr4:10261647-10261648	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs189425351	chr4:10261656-10261657	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs562239818	chr4:10261661-10261662	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs529553143	chr4:10261664-10261665	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs550911993	chr4:10261673-10261674	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs16895419	chr4:10261686-10261687	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs539177222	chr4:10261688-10261689	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs577014897	chr4:10261699-10261700	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs79855320	chr4:10261700-10261701	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs12505561	chr4:10261702-10261703	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs533542083	chr4:10261705-10261706	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs113391880	chr4:10261734-10261735	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs554897435	chr4:10261759-10261760	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs573860265	chr4:10261762-10261763	Weak transcription Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
40	rs150373685	chr4:10261833-10261834	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs556106870	chr4:10261835-10261836	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs192289473	chr4:10261843-10261844	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs553588801	chr4:10261855-10261856	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs145101921	chr4:10261891-10261892	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs548526635	chr4:10261911-10261912	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs573320275	chr4:10261950-10261951	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs148863027	chr4:10261956-10261957	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs540633277	chr4:10261987-10261988	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs149025763	chr4:10261988-10261989	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs556836668	chr4:10261990-10261991	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10256200-10261800	Weak transcription	Fetal Thymus	thymus
2	chr4:10256400-10261600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:10256400-10261800	Weak transcription	HMEC	breast
4	chr4:10256600-10261200	Weak transcription	NHEK	skin
5	chr4:10257200-10261200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:10257600-10262400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:10258800-10261200	Weak transcription	K562	blood
8	chr4:10261200-10262000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:10261200-10262200	Enhancers	NHEK	skin
10	chr4:10261200-10263000	Enhancers	K562	blood
11	chr4:10261600-10261800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:10261600-10262000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:10261800-10262000	Enhancers	Fetal Thymus	thymus
14	chr4:10261800-10263000	Enhancers	HMEC	breast
15	chr4:10262000-10263400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:10262000-10263400	Weak transcription	Fetal Thymus	thymus
17	chr4:10262000-10273800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:10262400-10262800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:10262600-10262800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:10262600-10262800	Enhancers	Gastric	stomach
21	chr4:10262800-10263400	Weak transcription	Gastric	stomach
22	chr4:10262800-10264600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:10263000-10263400	Weak transcription	K562	blood
24	chr4:10263200-10263800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:10263400-10263600	Enhancers	Fetal Thymus	thymus
26	chr4:10263400-10263600	Enhancers	Gastric	stomach
27	chr4:10263400-10265600	Enhancers	K562	blood
28	chr4:10263600-10266800	Weak transcription	Fetal Thymus	thymus
29	chr4:10263600-10268200	Weak transcription	Gastric	stomach
30	chr4:10264600-10264800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr4:10264600-10264800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:10265600-10271000	Weak transcription	K562	blood
33	chr4:10266200-10266600	Enhancers	Thymus	Thymus
34	chr4:10266400-10266800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr4:10266800-10267000	Enhancers	Fetal Thymus	thymus
36	chr4:10267000-10273600	Weak transcription	Fetal Thymus	thymus
37	chr4:10267800-10268200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:10268200-10268800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:10268200-10269400	Enhancers	Gastric	stomach
40	chr4:10268400-10269200	Enhancers	NHEK	skin
41	chr4:10268400-10269400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr4:10268800-10269000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:10268800-10273600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:10269000-10273800	Weak transcription	HMEC	breast
45	chr4:10269200-10269800	Enhancers	Duodenum Mucosa	Duodenum
46	chr4:10269200-10274600	Weak transcription	NHEK	skin
47	chr4:10269400-10274000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:10271000-10271800	Enhancers	K562	blood
49	chr4:10271400-10272200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr4:10271800-10277600	Weak transcription	K562	blood

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