Variant report

Variant	nsv593709
Chromosome Location	chr4:10260477-10281141
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	BACH1	chr4:10277398-10277423	K562	blood:	n/a	n/a
2	CEBPB	chr4:10267288-10267523	A549	lung:	n/a	chr4:10267446-10267457
3	CEBPB	chr4:10267329-10267510	HepG2	liver:	n/a	chr4:10267446-10267457
4	CTCF	chr4:10262460-10262610	GM12872	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
5	CTCF	chr4:10262600-10262750	GM12873	blood:	n/a	n/a
6	CTCF	chr4:10262280-10262430	GM12871	blood:	n/a	n/a
7	CTCF	chr4:10262480-10262630	GM12870	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
8	CTCF	chr4:10262640-10262790	GM12869	blood:	n/a	n/a
9	CTCF	chr4:10262480-10262630	GM06990	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
10	CTCF	chr4:10267520-10267670	NHEK	skin:	n/a	chr4:10267591-10267599
11	CTCF	chr4:10262528-10262612	GM19240	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
12	CTCF	chr4:10262551-10262623	H1-hESC	embryonic stem cell:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
13	CTCF	chr4:10262480-10262630	GM12878	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
14	CTCF	chr4:10262400-10262550	SAEC	small airway:	n/a	n/a
15	CTCF	chr4:10262526-10262596	Spleen_OC	spleen:	n/a	chr4:10262578-10262587 chr4:10262575-10262593
16	CTCF	chr4:10262460-10262610	BJ	skin:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
17	CTCF	chr4:10262500-10262650	WERI-Rb-1	eye:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
18	CTCF	chr4:10262529-10262621	GM12878	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
19	CTCF	chr4:10262415-10262691	K562	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
20	CTCF	chr4:10273284-10273382	K562	blood:	n/a	n/a
21	CTCF	chr4:10262440-10262590	HEK293	kidney:	n/a	chr4:10262578-10262587
22	CTCF	chr4:10262536-10262669	GM12892	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
23	CTCF	chr4:10262540-10262690	GM12873	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
24	CTCF	chr4:10262440-10262590	GM12874	blood:	n/a	chr4:10262578-10262587
25	CTCF	chr4:10266760-10266910	GM12867	blood:	n/a	n/a
26	CTCF	chr4:10273213-10273430	K562	blood:	n/a	n/a
27	CTCF	chr4:10262640-10262790	GM12872	blood:	n/a	n/a
28	CTCF	chr4:10262480-10262630	HCT-116	colon:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
29	CTCF	chr4:10262529-10262642	GM19238	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
30	CTCF	chr4:10262540-10262690	GM12871	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
31	CTCF	chr4:10262540-10262690	GM12864	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
32	CTCF	chr4:10262460-10262610	HepG2	liver:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
33	CTCF	chr4:10262500-10262650	GM12873	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
34	CTCF	chr4:10262480-10262630	WERI-Rb-1	eye:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
35	CTCF	chr4:10262540-10262690	NB4	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
36	CTCF	chr4:10262520-10262670	HCT-116	colon:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
37	CTCF	chr4:10262520-10262670	AG10803	skin:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
38	CTCF	chr4:10262532-10262673	NHEK	skin:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
39	CTCF	chr4:10262396-10262667	H1-hESC	embryonic stem cell:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
40	CTCF	chr4:10262453-10262662	HepG2	liver:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
41	CTCF	chr4:10262560-10262710	GM12864	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
42	CTCF	chr4:10262430-10262736	K562	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
43	CTCF	chr4:10262500-10262650	K562	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
44	CTCF	chr4:10262486-10262631	K562	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
45	CTCF	chr4:10262500-10262650	HEK293	kidney:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
46	CTCF	chr4:10262356-10262760	K562	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
47	CTCF	chr4:10262500-10262650	SAEC	small airway:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
48	CTCF	chr4:10262580-10262730	HPAF	blood vessel:	n/a	n/a
49	CTCF	chr4:10262555-10262621	MCF-7	breast:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598
50	CTCF	chr4:10262521-10262640	GM12891	blood:	n/a	chr4:10262578-10262587 chr4:10262575-10262593 chr4:10262577-10262598

No.	Distal block	Cell Line	Cell type
1	chr4:10254361..10256671-chr4:10262474..10264248,2	K562	blood:
2	chr4:10266886..10269236-chr4:10273082..10275523,2	K562	blood:
3	chr4:10271663..10274322-chr4:10278537..10280895,2	K562	blood:
4	chr4:10274788..10276860-chr4:10285063..10286717,2	K562	blood:
5	chr4:10278587..10280479-chr4:10297418..10299087,2	K562	blood:
6	chr4:10255171..10260191-chr4:10262748..10268904,8	K562	blood:
7	chr4:10266886..10269236-chr4:10273082..10275523,2	K562	blood:
8	chr4:10181799..10184639-chr4:10262185..10264664,2	K562	blood:
9	chr4:10266281..10269337-chr4:10269908..10272870,3	K562	blood:
10	chr4:10257186..10261463-chr4:10263373..10268480,7	K562	blood:
11	chr4:10262775..10265010-chr4:10265780..10268025,2	K562	blood:
12	chr4:10266281..10269337-chr4:10269908..10272870,3	K562	blood:
13	chr4:10271663..10276718-chr4:10277557..10282432,8	K562	blood:
14	chr4:10262775..10265010-chr4:10265780..10268025,2	K562	blood:
15	chr4:10271663..10274322-chr4:10278537..10280895,2	K562	blood:
16	chr4:10271663..10276718-chr4:10277557..10282432,8	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
ENSG00000250573	TF binding region
ENSG00000250040	TF binding region
ENSG00000250074	TF binding region
ENSG00000250040	chromatin interactions

Extended variants
information (count: 1420 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:1420 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1860912	chr4:10260477-10260478	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543577352	chr4:10260500-10260501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150103628	chr4:10260530-10260531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577555106	chr4:10260539-10260540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138489656	chr4:10260547-10260548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553556896	chr4:10260605-10260606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574593986	chr4:10260611-10260612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541526051	chr4:10260622-10260623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541696151	chr4:10260634-10260635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556936065	chr4:10260650-10260651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183372120	chr4:10260686-10260687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564911858	chr4:10260691-10260692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532375129	chr4:10260733-10260734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550620424	chr4:10260752-10260753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528324489	chr4:10260755-10260756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142922140	chr4:10260761-10260762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75786010	chr4:10260765-10260766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530056624	chr4:10260770-10260771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140145281	chr4:10260775-10260776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542328686	chr4:10260778-10260779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560482580	chr4:10260779-10260780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548371884	chr4:10260798-10260799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570066657	chr4:10260836-10260837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142244734	chr4:10260845-10260846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188368349	chr4:10260869-10260870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375466574	chr4:10260916-10260917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144862904	chr4:10260921-10260922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377024049	chr4:10260925-10260926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs56221619	chr4:10260937-10260938	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs568638438	chr4:10260945-10260946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111875893	chr4:10260953-10260954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112728711	chr4:10260966-10260967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531046469	chr4:10260967-10260968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575234642	chr4:10260974-10260975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545486026	chr4:10260980-10260981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571105323	chr4:10260998-10260999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557293381	chr4:10261007-10261008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569051672	chr4:10261024-10261025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192744366	chr4:10261036-10261037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540111662	chr4:10261043-10261044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4697737	chr4:10261053-10261054	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs373843648	chr4:10261065-10261066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184731871	chr4:10261078-10261079	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs111647291	chr4:10261098-10261099	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs528313709	chr4:10261124-10261125	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs530985816	chr4:10261140-10261141	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs552613042	chr4:10261155-10261156	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs140830755	chr4:10261166-10261167	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs546872968	chr4:10261197-10261198	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs528816440	chr4:10261228-10261229	Weak transcription Enhancers	lncRNA	n/a	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:98 , 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	chr4:10259800-10260600	Enhancers	Fetal Heart	heart
9	chr4:10261200-10262000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:10261200-10262200	Enhancers	NHEK	skin
11	chr4:10261200-10263000	Enhancers	K562	blood
12	chr4:10261600-10261800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:10261600-10262000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:10261800-10262000	Enhancers	Fetal Thymus	thymus
15	chr4:10261800-10263000	Enhancers	HMEC	breast
16	chr4:10262000-10263400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:10262000-10263400	Weak transcription	Fetal Thymus	thymus
18	chr4:10262000-10273800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:10262400-10262800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:10262600-10262800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:10262600-10262800	Enhancers	Gastric	stomach
22	chr4:10262800-10263400	Weak transcription	Gastric	stomach
23	chr4:10262800-10264600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:10263000-10263400	Weak transcription	K562	blood
25	chr4:10263200-10263800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:10263400-10263600	Enhancers	Fetal Thymus	thymus
27	chr4:10263400-10263600	Enhancers	Gastric	stomach
28	chr4:10263400-10265600	Enhancers	K562	blood
29	chr4:10263600-10266800	Weak transcription	Fetal Thymus	thymus
30	chr4:10263600-10268200	Weak transcription	Gastric	stomach
31	chr4:10264600-10264800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:10264600-10264800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:10265600-10271000	Weak transcription	K562	blood
34	chr4:10266200-10266600	Enhancers	Thymus	Thymus
35	chr4:10266400-10266800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr4:10266800-10267000	Enhancers	Fetal Thymus	thymus
37	chr4:10267000-10273600	Weak transcription	Fetal Thymus	thymus
38	chr4:10267800-10268200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:10268200-10268800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:10268200-10269400	Enhancers	Gastric	stomach
41	chr4:10268400-10269200	Enhancers	NHEK	skin
42	chr4:10268400-10269400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr4:10268800-10269000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr4:10268800-10273600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:10269000-10273800	Weak transcription	HMEC	breast
46	chr4:10269200-10269800	Enhancers	Duodenum Mucosa	Duodenum
47	chr4:10269200-10274600	Weak transcription	NHEK	skin
48	chr4:10269400-10274000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr4:10271000-10271800	Enhancers	K562	blood
50	chr4:10271400-10272200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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