Variant report

Variant	esv1830672
Chromosome Location	chr4:9572407-9681650
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:612)
CpG islands
(count:611)
Chromatin interactive
region (count:1)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:612 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr4:9605857-9606056	H1-hESC	embryonic stem cell:	n/a	n/a
2	BATF	chr4:9582796-9583040	GM12878	blood:	n/a	n/a
3	BATF	chr4:9609959-9610276	GM12878	blood:	n/a	n/a
4	BATF	chr4:9605704-9606128	GM12878	blood:	n/a	n/a
5	BATF	chr4:9606359-9606745	GM12878	blood:	n/a	n/a
6	BATF	chr4:9637521-9637725	GM12878	blood:	n/a	n/a
7	BATF	chr4:9661312-9661676	GM12878	blood:	n/a	n/a
8	BATF	chr4:9582818-9583030	GM12878	blood:	n/a	n/a
9	BATF	chr4:9609924-9610228	GM12878	blood:	n/a	n/a
10	BATF	chr4:9661377-9661663	GM12878	blood:	n/a	n/a
11	BATF	chr4:9606281-9606749	GM12878	blood:	n/a	n/a
12	BCL11A	chr4:9637557-9637806	GM12878	blood:	n/a	n/a
13	BCL11A	chr4:9609991-9610319	GM12878	blood:	n/a	n/a
14	BCL11A	chr4:9609970-9610277	GM12878	blood:	n/a	n/a
15	BCL11A	chr4:9661303-9661712	GM12878	blood:	n/a	n/a
16	BCL11A	chr4:9605814-9606174	GM12878	blood:	n/a	n/a
17	BCL11A	chr4:9606478-9606683	GM12878	blood:	n/a	n/a
18	BCL11A	chr4:9605779-9606088	GM12878	blood:	n/a	n/a
19	BCL11A	chr4:9606348-9606693	GM12878	blood:	n/a	n/a
20	BHLHE40	chr4:9661297-9661608	HepG2	liver:	n/a	n/a
21	CBX3	chr4:9597420-9597667	K562	blood:	n/a	n/a
22	CEBPB	chr4:9600979-9601222	K562	blood:	n/a	n/a
23	CEBPB	chr4:9629876-9630149	HepG2	liver:	n/a	chr4:9630037-9630048
24	CEBPB	chr4:9596784-9597029	HepG2	liver:	n/a	chr4:9596883-9596894
25	CEBPB	chr4:9639784-9639891	H1-hESC	embryonic stem cell:	n/a	n/a
26	CEBPB	chr4:9661262-9661447	K562	blood:	n/a	n/a
27	CEBPB	chr4:9608408-9608590	K562	blood:	n/a	n/a
28	CEBPB	chr4:9605743-9605929	HepG2	liver:	n/a	n/a
29	CEBPB	chr4:9637488-9637693	HepG2	liver:	n/a	chr4:9637617-9637628
30	CEBPB	chr4:9585906-9586106	HepG2	liver:	n/a	chr4:9585991-9586002
31	CEBPD	chr4:9608329-9608642	K562	blood:	n/a	n/a
32	CHD1	chr4:9613391-9613550	GM12878	blood:	n/a	n/a
33	CTCF	chr4:9661424-9661662	NHEK	skin:	n/a	n/a
34	CTCF	chr4:9579580-9579730	GM12878	blood:	n/a	n/a
35	CTCF	chr4:9663505-9664014	K562	blood:	n/a	n/a
36	CTCF	chr4:9579580-9579730	HRPEpiC	eye:	n/a	n/a
37	CTCF	chr4:9663688-9663909	K562	blood:	n/a	n/a
38	CTCF	chr4:9661138-9661804	A549	lung:	n/a	n/a
39	CTCF	chr4:9661940-9662090	HPF	lung:	n/a	n/a
40	CTCF	chr4:9579840-9579990	NHEK	skin:	n/a	n/a
41	CTCF	chr4:9661351-9661660	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr4:9637440-9637744	K562	blood:	n/a	n/a
43	CTCF	chr4:9624795-9624905	K562	blood:	n/a	n/a
44	CTCF	chr4:9661375-9661685	Kidney_OC	kidney:	n/a	n/a
45	CTCF	chr4:9661380-9661693	Pancreas_OC	pancreas:	n/a	n/a
46	CTCF	chr4:9579585-9579837	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr4:9604668-9604994	K562	blood:	n/a	n/a
48	CTCF	chr4:9661409-9661678	MCF-7	breast:	n/a	n/a
49	CTCF	chr4:9659861-9659948	MCF-7	breast:	n/a	n/a
50	CTCF	chr4:9663780-9663930	HAc	cerebellar:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:9604187-9604237	AG10803	skin:	n/a
2	chr4:9604187-9604237	AG10803	skin:	n/a
3	chr4:9661422-9661472	NH-A	brain:	n/a
4	chr4:9661405-9661455	GM06990	blood:	n/a
5	chr4:9602138-9602188	NHDF-neo	bronchial:	n/a
6	chr4:9604340-9604390	CMK	blood:	n/a
7	chr4:9604877-9604927	AG04449	skin:	fetal
8	chr4:9604780-9604830	SKMC	muscle:	n/a
9	chr4:9604340-9604390	AG09309	skin:	n/a
10	chr4:9602138-9602188	AG04450	lung:	fetal
11	chr4:9661422-9661472	GM19239	blood:	n/a
12	chr4:9661422-9661472	K562	blood:	n/a
13	chr4:9661422-9661472	AG04449	skin:	fetal
14	chr4:9604340-9604390	AG10803	skin:	n/a
15	chr4:9604780-9604830	AG09319	gingival:	n/a
16	chr4:9604877-9604927	IMR90	lung:	fetal
17	chr4:9661405-9661455	HCF	heart:	n/a
18	chr4:9661405-9661455	U87	brain:	n/a
19	chr4:9604780-9604830	HEEpiC	esophagus:	n/a
20	chr4:9604780-9604830	GM12891	blood:	n/a
21	chr4:9604780-9604830	SK-N-MC	brain:	n/a
22	chr4:9661405-9661455	HMEC	breast:	n/a
23	chr4:9604187-9604237	T-47D	breast:	n/a
24	chr4:9604877-9604927	HMEC	breast:	n/a
25	chr4:9604340-9604390	NT2-D1	testis:	n/a
26	chr4:9661422-9661472	SKMC	muscle:	n/a
27	chr4:9602138-9602188	HMEC	breast:	n/a
28	chr4:9604340-9604390	GM12891	blood:	n/a
29	chr4:9604780-9604830	GM19239	blood:	n/a
30	chr4:9604780-9604830	HCM	heart:	n/a
31	chr4:9661405-9661455	GM12891	blood:	n/a
32	chr4:9601996-9602046	HepG2	liver:	n/a
33	chr4:9604780-9604830	SK-N-SH_RA	brain:	n/a
34	chr4:9661422-9661472	HCPEpiC	choroid plexus:	n/a
35	chr4:9601996-9602046	HCPEpiC	choroid plexus:	n/a
36	chr4:9604340-9604390	A549	lung:	n/a
37	chr4:9604877-9604927	NHBE	bronchial:	n/a
38	chr4:9653008-9653058	HRPEpiC	eye:	n/a
39	chr4:9661422-9661472	HL-60	blood:	n/a
40	chr4:9604877-9604927	A549	lung:	n/a
41	chr4:9604340-9604390	NH-A	brain:	n/a
42	chr4:9604187-9604237	HEEpiC	esophagus:	n/a
43	chr4:9604340-9604390	ECC-1	luminal epithelium:	n/a
44	chr4:9602138-9602188	HIPEpiC	eye:	n/a
45	chr4:9604340-9604390	HAEpiC	amniotic membrane:	n/a
46	chr4:9604877-9604927	HIPEpiC	eye:	n/a
47	chr4:9661422-9661472	RPTEC	kidney:	n/a
48	chr4:9604877-9604927	HEK293	kidney:	embryo
49	chr4:9604340-9604390	ovcar-3	ovarian:	n/a
50	chr4:9604877-9604927	PANC-1	pancreas:	n/a

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:9533415..9534346-chr4:9660887..9661684,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DRD5-16	chr4:9678932-9679558	NONHSAT095141
2	lnc-SLC2A9-6	chr4:9680180-9680546	l_2603_chr4:9680179-9682164_kidney
3	lnc-DRD5-15	chr4:9680112-9680551	l_2602_chr4:9680111-9682135_thyroid

No data

Variant related genes	Relation type
ENSG00000249799	TF binding region
ENPP7P11	TF binding region
ENSG00000265901	TF binding region
ENSG00000249799	CpG island
ENPP7P11	CpG island
ENSG00000265901	CpG island

Extended variants
information (count: 6994 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:6994 , 50 per page) page: 1 2 3 4 5 6 7 ... 140

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12648085	chr4:9572407-9572408	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567804126	chr4:9572453-9572454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77737252	chr4:9572487-9572488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573969432	chr4:9572488-9572489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374409713	chr4:9572507-9572508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556606563	chr4:9572541-9572542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571590993	chr4:9572549-9572550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538053923	chr4:9572552-9572553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571808934	chr4:9572553-9572554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139343792	chr4:9572589-9572590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184611876	chr4:9572592-9572593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576206310	chr4:9572593-9572594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372976190	chr4:9572597-9572598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377188265	chr4:9572605-9572606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532415762	chr4:9572630-9572631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188928534	chr4:9572636-9572637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149908542	chr4:9572638-9572639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs56689618	chr4:9572641-9572642	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs192930105	chr4:9572648-9572649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577707784	chr4:9572689-9572690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561410358	chr4:9572693-9572694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184557282	chr4:9572695-9572696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550312930	chr4:9572697-9572698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13147802	chr4:9572720-9572721	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs376137109	chr4:9572721-9572722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538896174	chr4:9572724-9572725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371111310	chr4:9572729-9572730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189831650	chr4:9572732-9572733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs56745697	chr4:9572757-9572758	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs554398107	chr4:9572767-9572768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147860397	chr4:9572774-9572775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141451880	chr4:9572788-9572789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181034569	chr4:9572815-9572816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572057084	chr4:9572838-9572839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76797949	chr4:9572842-9572843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184998282	chr4:9572843-9572844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78666361	chr4:9572850-9572851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75451272	chr4:9572858-9572859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189411458	chr4:9572862-9572863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574545564	chr4:9572864-9572865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75551688	chr4:9572876-9572877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs59193286	chr4:9572887-9572888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368784688	chr4:9572888-9572889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs72504119	chr4:9572897-9572898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs58001967	chr4:9572923-9572924	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs541286607	chr4:9572926-9572927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112140899	chr4:9572927-9572928	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
48	rs572376227	chr4:9573007-9573008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369828862	chr4:9573039-9573040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181778013	chr4:9573042-9573043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:418 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:9563800-9575800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:9569200-9572600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr4:9579600-9582200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:9583000-9584400	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr4:9583200-9584200	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr4:9583400-9586400	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr4:9583600-9583800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:9583800-9596200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:9584200-9584400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
10	chr4:9584400-9585400	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr4:9584400-9585800	Enhancers	Colonic Mucosa	Colon
12	chr4:9584400-9586000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:9584600-9585400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr4:9585600-9605400	Weak transcription	Fetal Brain Male	brain
15	chr4:9586000-9586200	Enhancers	Fetal Intestine Small	intestine
16	chr4:9586000-9586200	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr4:9586000-9586200	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr4:9586200-9597400	Weak transcription	Fetal Intestine Small	intestine
19	chr4:9594000-9594200	ZNF genes & repeats	Fetal Thymus	thymus
20	chr4:9594200-9596800	Weak transcription	Fetal Thymus	thymus
21	chr4:9594800-9603400	Weak transcription	Fetal Lung	lung
22	chr4:9595200-9605600	Weak transcription	Ovary	ovary
23	chr4:9595400-9603400	Weak transcription	Primary T cells from cord blood	blood
24	chr4:9596200-9596800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
25	chr4:9596200-9597200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:9596400-9597200	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr4:9596600-9597000	Enhancers	Thymus	Thymus
28	chr4:9596600-9597600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
29	chr4:9596600-9597600	Enhancers	Stomach Mucosa	stomach
30	chr4:9596600-9600800	Weak transcription	Fetal Intestine Large	intestine
31	chr4:9596800-9597600	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr4:9596800-9600400	Enhancers	Fetal Thymus	thymus
33	chr4:9597000-9597200	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr4:9597200-9599600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr4:9597400-9597800	ZNF genes & repeats	Fetal Intestine Small	intestine
36	chr4:9597600-9597800	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr4:9597600-9605000	Weak transcription	Stomach Mucosa	stomach
38	chr4:9597800-9600800	Weak transcription	Fetal Intestine Small	intestine
39	chr4:9598600-9598800	Enhancers	Small Intestine	intestine
40	chr4:9598800-9603400	Weak transcription	Small Intestine	intestine
41	chr4:9598800-9605400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr4:9599000-9600600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr4:9599600-9600000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr4:9599800-9600000	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr4:9599800-9601000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr4:9600000-9600800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:9600000-9602400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr4:9600400-9600800	Weak transcription	Fetal Thymus	thymus
49	chr4:9600600-9602200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr4:9600800-9601000	Enhancers	H9 Cell Line	embryonic stem cell

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