Variant report

Variant	esv17698
Chromosome Location	chr4:3310705-3312370
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:62)
Chromatin interactive
region (count:1)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:3311163-3311243	Kidney_OC	kidney:	n/a	n/a
2	CTCF	chr4:3311446-3311511	Kidney_OC	kidney:	n/a	n/a
3	CTCF	chr4:3311769-3311820	GM13976	blood:	n/a	n/a
4	CTCF	chr4:3311707-3311805	Kidney_OC	kidney:	n/a	n/a
5	GABPA	chr4:3310751-3311022	HepG2	liver:	n/a	n/a
6	IRF4	chr4:3310744-3311101	GM12878	blood:	n/a	n/a
7	PAX5	chr4:3310731-3311045	GM12878	blood:	n/a	n/a
8	POU2F2	chr4:3310903-3311817	GM12878	blood:	n/a	n/a
9	REST	chr4:3310702-3311163	PANC-1	pancreas:	n/a	n/a
10	TAF1	chr4:3310654-3311250	HepG2	liver:	n/a	n/a
11	TCF12	chr4:3311111-3311300	GM12878	blood:	n/a	n/a
12	TCF12	chr4:3311611-3312050	GM12878	blood:	n/a	n/a
13	TCF12	chr4:3311665-3311858	GM12878	blood:	n/a	n/a
14	TCF3	chr4:3310840-3312098	GM12878	blood:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:3312007-3312057	CMK	blood:	n/a
2	chr4:3312007-3312057	CMK	blood:	n/a
3	chr4:3312007-3312057	MCF-7	breast:	n/a
4	chr4:3312007-3312057	SK-N-MC	brain:	n/a
5	chr4:3312007-3312057	Caco-2	colon:	n/a
6	chr4:3312007-3312057	Hepatocyte	liver:	n/a
7	chr4:3312007-3312057	BJ	skin:	n/a
8	chr4:3312007-3312057	SK-N-SH	brain:	n/a
9	chr4:3312007-3312057	SK-N-SH_RA	brain:	n/a
10	chr4:3312007-3312057	GM19239	blood:	n/a
11	chr4:3312007-3312057	AoSMC	blood vessel:	n/a
12	chr4:3312007-3312057	GM12891	blood:	n/a
13	chr4:3312007-3312057	GM12878	blood:	n/a
14	chr4:3312007-3312057	HepG2	liver:	n/a
15	chr4:3312007-3312057	NT2-D1	testis:	n/a
16	chr4:3312007-3312057	HCPEpiC	choroid plexus:	n/a
17	chr4:3312007-3312057	U87	brain:	n/a
18	chr4:3312007-3312057	PFSK-1	brain:	n/a
19	chr4:3312007-3312057	PANC-1	pancreas:	n/a
20	chr4:3312007-3312057	K562	blood:	n/a
21	chr4:3312007-3312057	HEEpiC	esophagus:	n/a
22	chr4:3312007-3312057	NHBE	bronchial:	n/a
23	chr4:3312007-3312057	ovcar-3	ovarian:	n/a
24	chr4:3312007-3312057	IMR90	lung:	fetal
25	chr4:3312007-3312057	HMEC	breast:	n/a
26	chr4:3312007-3312057	MCF10A-Er-Src	breast:	n/a
27	chr4:3312007-3312057	GM06990	blood:	n/a
28	chr4:3312007-3312057	HIPEpiC	eye:	n/a
29	chr4:3312007-3312057	HCT-116	colon:	n/a
30	chr4:3312007-3312057	AG10803	skin:	n/a
31	chr4:3312007-3312057	H1-hESC	embryonic stem cell:	embryo
32	chr4:3312007-3312057	HUVEC	blood vessel:	n/a
33	chr4:3312007-3312057	HRE	kidney:	n/a
34	chr4:3312007-3312057	HRPEpiC	eye:	n/a
35	chr4:3312007-3312057	GM12892	blood:	n/a
36	chr4:3312007-3312057	HRCEpiC	kidney:	n/a
37	chr4:3312007-3312057	HNPCEpiC	eye:	n/a
38	chr4:3312007-3312057	SKMC	muscle:	n/a
39	chr4:3312007-3312057	SAEC	small airway:	n/a
40	chr4:3312007-3312057	PrEC	prostate:	n/a
41	chr4:3312007-3312057	AG09319	gingival:	n/a
42	chr4:3312007-3312057	T-47D	breast:	n/a
43	chr4:3312007-3312057	A549	lung:	n/a
44	chr4:3312007-3312057	NB4	blood:	n/a
45	chr4:3312007-3312057	AG04450	lung:	fetal
46	chr4:3312007-3312057	RPTEC	kidney:	n/a
47	chr4:3312007-3312057	AG09309	skin:	n/a
48	chr4:3312007-3312057	NH-A	brain:	n/a
49	chr4:3312007-3312057	HCM	heart:	n/a
50	chr4:3312007-3312057	HEK293	kidney:	embryo

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:3312095..3315185-chr4:3316131..3319628,4	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C4orf44-3	chr4:3311824-3312124	NONHSAT094858
2	lnc-C4orf44-3	chr4:3311226-3311715	NONHSAT094858
3	lnc-C4orf44-3	chr4:3311824-3312170	NONHSAT094859
4	lnc-C4orf44-3	chr4:3311264-3311294	NONHSAT094859

No data

Variant related genes	Relation type
RGS12	TF binding region
ENSG00000248840	TF binding region
RGS12	CpG island
ENSG00000248840	CpG island
ENSG00000159788	chromatin interactions

Extended variants
information (count: 147 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528286351	chr4:3310730-3310731	Weak transcription Enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs199665744	chr4:3310752-3310753	Weak transcription Enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs531490527	chr4:3310780-3310781	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs548418093	chr4:3310782-3310783	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs561933102	chr4:3310784-3310785	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs527570984	chr4:3310823-3310824	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs56120826	chr4:3310831-3310832	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs111526273	chr4:3310838-3310839	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs370356614	chr4:3310857-3310858	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs76393538	chr4:3310883-3310884	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs368188960	chr4:3310911-3310912	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs13118415	chr4:3310928-3310929	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs372322346	chr4:3310941-3310942	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs13118577	chr4:3310963-3310964	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs13133291	chr4:3310965-3310966	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs13118591	chr4:3310981-3310982	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs371540144	chr4:3310994-3310995	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs570353390	chr4:3311002-3311003	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs376923774	chr4:3311017-3311018	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs13133323	chr4:3311018-3311019	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs539422388	chr4:3311024-3311025	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs13118624	chr4:3311034-3311035	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs370221511	chr4:3311038-3311039	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs3135147	chr4:3311042-3311043	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs116600133	chr4:3311047-3311048	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs114878858	chr4:3311048-3311049	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs13133356	chr4:3311049-3311050	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs10527501	chr4:3311055-3311056	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs569430099	chr4:3311058-3311059	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs535626082	chr4:3311061-3311062	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs66852340	chr4:3311070-3311071	Weak transcription Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs572337547	chr4:3311084-3311085	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs11935433	chr4:3311088-3311089	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs201483444	chr4:3311104-3311105	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs113320787	chr4:3311105-3311106	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs113150905	chr4:3311131-3311132	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs558474521	chr4:3311135-3311136	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs375552384	chr4:3311137-3311138	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs369750796	chr4:3311140-3311141	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs577909524	chr4:3311153-3311154	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs373546196	chr4:3311158-3311159	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs543806592	chr4:3311174-3311175	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs71608272	chr4:3311177-3311178	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs369043362	chr4:3311194-3311195	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs71589617	chr4:3311206-3311207	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs74198189	chr4:3311210-3311211	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs367949573	chr4:3311211-3311212	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs375639182	chr4:3311213-3311214	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs74184934	chr4:3311233-3311234	Weak transcription Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs111677495	chr4:3311237-3311238	Weak transcription Enhancers	TF binding region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	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
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3296600-3318600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:3299600-3318600	Weak transcription	Aorta	Aorta
3	chr4:3301200-3350000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:3301600-3312400	Enhancers	Fetal Muscle Trunk	muscle
5	chr4:3303200-3310800	Enhancers	Fetal Brain Male	brain
6	chr4:3304000-3313000	Weak transcription	HepG2	liver
7	chr4:3304800-3318600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:3306600-3312600	Enhancers	Lung	lung
9	chr4:3306600-3320600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr4:3306800-3312400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr4:3306800-3312800	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr4:3307000-3320600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr4:3307200-3318000	Weak transcription	Liver	Liver
14	chr4:3307200-3327000	Weak transcription	Fetal Kidney	kidney
15	chr4:3307400-3312200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr4:3307400-3325600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr4:3307400-3326800	Weak transcription	A549	lung
18	chr4:3307600-3315000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:3307600-3322200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr4:3307600-3323000	Weak transcription	NH-A	brain
21	chr4:3307600-3323600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:3307800-3311600	Weak transcription	Fetal Intestine Large	intestine
23	chr4:3307800-3312200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr4:3307800-3319000	Weak transcription	Colon Smooth Muscle	Colon
25	chr4:3308000-3311600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr4:3308000-3313400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:3308000-3318200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:3308000-3318600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr4:3308000-3319800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr4:3308000-3322800	Weak transcription	NHDF-Ad	bronchial
31	chr4:3308000-3323600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr4:3308000-3323800	Weak transcription	Osteobl	bone
33	chr4:3308000-3326000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr4:3308000-3327000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr4:3308200-3311800	Weak transcription	Psoas Muscle	Psoas
36	chr4:3308200-3314400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:3308200-3318400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr4:3308200-3318400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr4:3308200-3318600	Weak transcription	NHLF	lung
40	chr4:3308200-3319800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr4:3308200-3320400	Weak transcription	Fetal Heart	heart
42	chr4:3308200-3323200	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr4:3308400-3314200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:3308400-3315000	Weak transcription	Primary T cells from cord blood	blood
45	chr4:3308400-3317800	Weak transcription	HSMM	muscle
46	chr4:3308400-3318200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr4:3308400-3318200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr4:3308400-3320200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr4:3308400-3321400	Weak transcription	Stomach Mucosa	stomach
50	chr4:3308600-3312400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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