Variant report

Variant	esv33115
Chromosome Location	chr4:10141956-10147682
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	chr4:10143216-10143253	NHEK	skin:	n/a	chr4:10143232-10143241 chr4:10143229-10143247
5	CTCF	chr4:10142560-10143448	H1-hESC	embryonic stem cell:	n/a	chr4:10143232-10143241 chr4:10143229-10143247 chr4:10142953-10142962
6	CTCF	chr4:10143180-10143330	SAEC	small airway:	n/a	chr4:10143232-10143241 chr4:10143229-10143247
7	CTCF	chr4:10143120-10143270	GM12872	blood:	n/a	chr4:10143232-10143241 chr4:10143229-10143247
8	CTCF	chr4:10143186-10143191	GM10266	blood:	n/a	n/a
9	CTCF	chr4:10143121-10143353	K562	blood:	n/a	chr4:10143232-10143241 chr4:10143229-10143247
10	CTCF	chr4:10146140-10146290	RPTEC	kidney:	n/a	n/a
11	CTCF	chr4:10143140-10143290	GM12865	blood:	n/a	chr4:10143232-10143241 chr4:10143229-10143247
12	CTCF	chr4:10142640-10142790	HepG2	liver:	n/a	n/a
13	CTCF	chr4:10143120-10143270	Caco-2	colon:	n/a	chr4:10143232-10143241 chr4:10143229-10143247
14	CTCF	chr4:10142873-10143086	H1-hESC	embryonic stem cell:	n/a	chr4:10142953-10142962
15	CTCF	chr4:10146240-10146390	HCFaa	heart:	n/a	n/a
16	CTCF	chr4:10143089-10143361	H1-hESC	embryonic stem cell:	n/a	chr4:10143232-10143241 chr4:10143229-10143247
17	CTCF	chr4:10143140-10143290	GM12872	blood:	n/a	chr4:10143232-10143241 chr4:10143229-10143247
18	CTCF	chr4:10142560-10142710	SAEC	small airway:	n/a	n/a
19	CTCF	chr4:10142980-10143270	GM06990	blood:	n/a	chr4:10143232-10143241 chr4:10143229-10143247
20	CTCF	chr4:10142620-10142770	HPAF	blood vessel:	n/a	n/a
21	CTCF	chr4:10143120-10143270	HCT-116	colon:	n/a	chr4:10143232-10143241 chr4:10143229-10143247
22	CTCF	chr4:10142680-10142830	GM12873	blood:	n/a	n/a
23	CTCF	chr4:10142620-10142770	SK-N-SH_RA	brain:	n/a	n/a
24	CTCF	chr4:10143120-10143270	HRE	kidney:	n/a	chr4:10143232-10143241 chr4:10143229-10143247
25	CTCF	chr4:10143180-10143330	HEEpiC	esophagus:	n/a	chr4:10143232-10143241 chr4:10143229-10143247
26	CTCF	chr4:10146240-10146390	GM12875	blood:	n/a	n/a
27	CTCF	chr4:10142600-10142750	HPAF	blood vessel:	n/a	n/a
28	CTCF	chr4:10143160-10143310	WERI-Rb-1	eye:	n/a	chr4:10143232-10143241 chr4:10143229-10143247
29	CTCF	chr4:10143160-10143310	GM12864	blood:	n/a	chr4:10143232-10143241 chr4:10143229-10143247
30	CTCF	chr4:10143120-10143270	HMEC	breast:	n/a	chr4:10143232-10143241 chr4:10143229-10143247
31	CTCF	chr4:10143160-10143310	SK-N-SH_RA	brain:	n/a	chr4:10143232-10143241 chr4:10143229-10143247
32	CTCF	chr4:10143102-10143399	K562	blood:	n/a	chr4:10143232-10143241 chr4:10143229-10143247
33	CTCF	chr4:10146200-10146350	GM12873	blood:	n/a	n/a
34	CTCF	chr4:10143120-10143270	HEK293	kidney:	n/a	chr4:10143232-10143241 chr4:10143229-10143247
35	CTCF	chr4:10143200-10143350	GM12867	blood:	n/a	chr4:10143232-10143241 chr4:10143229-10143247
36	CTCF	chr4:10143280-10143430	HCT-116	colon:	n/a	n/a
37	CTCF	chr4:10143193-10143253	GM10266	blood:	n/a	chr4:10143232-10143241 chr4:10143229-10143247
38	CTCF	chr4:10142700-10142850	BJ	skin:	n/a	n/a
39	CTCF	chr4:10142808-10143435	K562	blood:	n/a	chr4:10143232-10143241 chr4:10143229-10143247 chr4:10142953-10142962
40	CTCF	chr4:10143260-10143410	RPTEC	kidney:	n/a	n/a
41	CTCF	chr4:10143000-10143150	A549	lung:	n/a	n/a
42	CTCF	chr4:10143135-10143288	HepG2	liver:	n/a	chr4:10143232-10143241 chr4:10143229-10143247
43	CTCF	chr4:10143120-10143270	HFF-Myc	foreskin:	n/a	chr4:10143232-10143241 chr4:10143229-10143247
44	CTCF	chr4:10142600-10142750	K562	blood:	n/a	n/a
45	CTCF	chr4:10143100-10143250	HCM	heart:	n/a	chr4:10143232-10143241 chr4:10143229-10143247
46	CTCF	chr4:10143180-10143330	MCF-7	breast:	n/a	chr4:10143232-10143241 chr4:10143229-10143247
47	CTCF	chr4:10142633-10142773	K562	blood:	n/a	n/a
48	CTCF	chr4:10143209-10143215	NHEK	skin:	n/a	n/a
49	CTCF	chr4:10143160-10143310	HepG2	liver:	n/a	chr4:10143232-10143241 chr4:10143229-10143247
50	CTCF	chr4:10143140-10143290	HRPEpiC	eye:	n/a	chr4:10143232-10143241 chr4:10143229-10143247

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:10145483-10145533	MCF10A-Er-Src	breast:	n/a
2	chr4:10145483-10145533	PANC-1	pancreas:	n/a
3	chr4:10147302-10147352	PANC-1	pancreas:	n/a
4	chr4:10147038-10147088	Hela-S3	cervix:	n/a
5	chr4:10147302-10147352	GM12878	blood:	n/a
6	chr4:10147330-10147380	NB4	blood:	n/a
7	chr4:10147038-10147088	GM06990	blood:	n/a
8	chr4:10143053-10143103	LNCaP	prostate:	n/a
9	chr4:10147302-10147352	RPTEC	kidney:	n/a
10	chr4:10147302-10147352	NHBE	bronchial:	n/a
11	chr4:10143053-10143103	GM12878	blood:	n/a
12	chr4:10147606-10147656	ProgFib	skin:	n/a
13	chr4:10147302-10147352	AG04449	skin:	fetal
14	chr4:10147100-10147150	SK-N-MC	brain:	n/a
15	chr4:10147100-10147150	GM12878	blood:	n/a
16	chr4:10147330-10147380	BJ	skin:	n/a
17	chr4:10147038-10147088	ovcar-3	ovarian:	n/a
18	chr4:10147038-10147088	GM12891	blood:	n/a
19	chr4:10147330-10147380	PFSK-1	brain:	n/a
20	chr4:10147038-10147088	Caco-2	colon:	n/a
21	chr4:10147100-10147150	ECC-1	luminal epithelium:	n/a
22	chr4:10147302-10147352	MCF-7	breast:	n/a
23	chr4:10147606-10147656	HEEpiC	esophagus:	n/a
24	chr4:10143053-10143103	SKMC	muscle:	n/a
25	chr4:10147302-10147352	IMR90	lung:	fetal
26	chr4:10147038-10147088	HUVEC	blood vessel:	n/a
27	chr4:10145483-10145533	GM19239	blood:	n/a
28	chr4:10147606-10147656	HCM	heart:	n/a
29	chr4:10147330-10147380	K562	blood:	n/a
30	chr4:10143053-10143103	SK-N-MC	brain:	n/a
31	chr4:10147038-10147088	HPAEpiC	pulmonary alveolar:	n/a
32	chr4:10147302-10147352	GM12891	blood:	n/a
33	chr4:10145483-10145533	LNCaP	prostate:	n/a
34	chr4:10147302-10147352	HEEpiC	esophagus:	n/a
35	chr4:10145483-10145533	Caco-2	colon:	n/a
36	chr4:10147330-10147380	HL-60	blood:	n/a
37	chr4:10143053-10143103	HUVEC	blood vessel:	n/a
38	chr4:10147038-10147088	K562	blood:	n/a
39	chr4:10147302-10147352	A549	lung:	n/a
40	chr4:10143053-10143103	AG04449	skin:	fetal
41	chr4:10147302-10147352	NB4	blood:	n/a
42	chr4:10147330-10147380	AG04449	skin:	fetal
43	chr4:10147330-10147380	A549	lung:	n/a
44	chr4:10147606-10147656	GM12878	blood:	n/a
45	chr4:10147302-10147352	HNPCEpiC	eye:	n/a
46	chr4:10147038-10147088	MCF-7	breast:	n/a
47	chr4:10147302-10147352	AG09309	skin:	n/a
48	chr4:10145483-10145533	NHDF-neo	bronchial:	n/a
49	chr4:10145483-10145533	SK-N-SH_RA	brain:	n/a
50	chr4:10145483-10145533	HRE	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:10140012..10142690-chr4:10152544..10154199,2	K562	blood:
2	chr4:10140841..10143166-chr4:10164924..10167000,2	K562	blood:
3	chr4:10141623..10144820-chr4:10145857..10148531,3	K562	blood:
4	chr4:10141623..10144820-chr4:10145857..10148531,3	K562	blood:
5	chr4:10142152..10144542-chr4:10456013..10458159,2	K562	blood:
6	chr4:10117300..10124855-chr4:10138380..10145377,13	MCF-7	breast:
7	chr4:10147647..10149912-chr4:10150747..10153139,2	K562	blood:
8	chr4:10147623..10149514-chr4:10156130..10157999,2	K562	blood:
9	chr4:10142468..10145387-chr4:10146611..10148310,2	MCF-7	breast:
10	chr4:10138009..10140287-chr4:10142395..10145088,2	MCF-7	breast:
11	chr4:10110208..10112839-chr4:10141638..10144449,2	MCF-7	breast:
12	chr4:10146309..10149123-chr4:10156130..10158993,2	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
ENSG00000223086	chromatin interactions
ENSG00000071127	chromatin interactions
ENSG00000250393	chromatin interactions

Extended variants
information (count: 533 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:533 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10028570	chr4:10141965-10141966	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs367851906	chr4:10141981-10141982	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs79630769	chr4:10141989-10141990	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs10015494	chr4:10141990-10141991	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs560751235	chr4:10142020-10142021	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs557052771	chr4:10142038-10142039	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs141345110	chr4:10142064-10142065	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs147557264	chr4:10142087-10142088	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs539092869	chr4:10142088-10142089	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs531321397	chr4:10142092-10142093	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs77498731	chr4:10142098-10142099	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs570938407	chr4:10142123-10142124	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs534825250	chr4:10142147-10142148	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs192353095	chr4:10142166-10142167	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs16894053	chr4:10142179-10142180	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs573748156	chr4:10142184-10142185	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs377731355	chr4:10142193-10142194	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs544063261	chr4:10142212-10142213	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs563835509	chr4:10142218-10142219	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs183722035	chr4:10142222-10142223	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs187799246	chr4:10142225-10142226	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs113441499	chr4:10142236-10142237	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs528814545	chr4:10142252-10142253	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs200352175	chr4:10142277-10142278	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs192302100	chr4:10142287-10142288	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs557225627	chr4:10142309-10142310	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs145133391	chr4:10142314-10142315	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs183013683	chr4:10142321-10142322	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs187346373	chr4:10142355-10142356	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs151320836	chr4:10142359-10142360	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs10028937	chr4:10142366-10142367	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs557336164	chr4:10142392-10142393	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs566104725	chr4:10142399-10142400	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs533852832	chr4:10142400-10142401	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs10015872	chr4:10142410-10142411	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs192544924	chr4:10142441-10142442	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs544433437	chr4:10142456-10142457	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs76581770	chr4:10142469-10142470	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs189040759	chr4:10142485-10142486	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs140638994	chr4:10142488-10142489	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs546286747	chr4:10142500-10142501	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs564495253	chr4:10142518-10142519	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs563962497	chr4:10142548-10142549	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs528174832	chr4:10142561-10142562	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs540616980	chr4:10142634-10142635	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs10031453	chr4:10142659-10142660	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs529558293	chr4:10142664-10142665	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs75544277	chr4:10142704-10142705	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs80213755	chr4:10142710-10142711	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs147526602	chr4:10142711-10142712	Enhancers	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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