Variant report

Variant	esv3423133
Chromosome Location	chr4:3762154-3766452
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:123)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:3764973-3765001	GM12891	blood:	n/a	n/a
2	MAX	chr4:3764110-3764504	H1-hESC	embryonic stem cell:	n/a	chr4:3764159-3764169
3	MAX	chr4:3763689-3764493	NB4	blood:	n/a	chr4:3764159-3764169
4	MAX	chr4:3764827-3765292	NB4	blood:	n/a	n/a
5	MAZ	chr4:3762520-3763009	IMR90	lung:	n/a	n/a
6	MYC	chr4:3762207-3762299	H1-hESC	embryonic stem cell:	n/a	n/a
7	MYC	chr4:3764881-3765191	NB4	blood:	n/a	n/a
8	NR3C1	chr4:3764887-3765074	A549	lung:	n/a	n/a
9	NR3C1	chr4:3764820-3765171	A549	lung:	n/a	n/a
10	POLR2A	chr4:3764229-3764431	HepG2	liver:	n/a	n/a
11	POLR2A	chr4:3766384-3766418	H1-hESC	embryonic stem cell:	n/a	n/a
12	SPI1	chr4:3764779-3765287	HL-60	blood:	n/a	n/a
13	SUZ12	chr4:3763955-3764546	H1-hESC	embryonic stem cell:	n/a	n/a

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:3765047-3765097	AG09309	skin:	n/a
2	chr4:3765047-3765097	AG09309	skin:	n/a
3	chr4:3765047-3765097	HCM	heart:	n/a
4	chr4:3765047-3765097	ECC-1	luminal epithelium:	n/a
5	chr4:3766151-3766201	HL-60	blood:	n/a
6	chr4:3766151-3766201	GM12891	blood:	n/a
7	chr4:3765047-3765097	BJ	skin:	n/a
8	chr4:3765047-3765097	IMR90	lung:	fetal
9	chr4:3765047-3765097	HRCEpiC	kidney:	n/a
10	chr4:3765047-3765097	AG04450	lung:	fetal
11	chr4:3766151-3766201	HAEpiC	amniotic membrane:	n/a
12	chr4:3765047-3765097	HEK293	kidney:	embryo
13	chr4:3766151-3766201	Hepatocyte	liver:	n/a
14	chr4:3766151-3766201	HRCEpiC	kidney:	n/a
15	chr4:3765047-3765097	HRE	kidney:	n/a
16	chr4:3765047-3765097	AG04449	skin:	fetal
17	chr4:3765047-3765097	BE2_C	brain:	n/a
18	chr4:3766151-3766201	ECC-1	luminal epithelium:	n/a
19	chr4:3765047-3765097	HMEC	breast:	n/a
20	chr4:3765047-3765097	HCPEpiC	choroid plexus:	n/a
21	chr4:3766151-3766201	T-47D	breast:	n/a
22	chr4:3765047-3765097	SK-N-SH	brain:	n/a
23	chr4:3766151-3766201	HUVEC	blood vessel:	n/a
24	chr4:3765047-3765097	SKMC	muscle:	n/a
25	chr4:3765047-3765097	U87	brain:	n/a
26	chr4:3766151-3766201	HRPEpiC	eye:	n/a
27	chr4:3765047-3765097	Hepatocyte	liver:	n/a
28	chr4:3765047-3765097	AG09319	gingival:	n/a
29	chr4:3765047-3765097	Caco-2	colon:	n/a
30	chr4:3766151-3766201	HPAEpiC	pulmonary alveolar:	n/a
31	chr4:3766151-3766201	SK-N-SH	brain:	n/a
32	chr4:3766151-3766201	BJ	skin:	n/a
33	chr4:3766151-3766201	NH-A	brain:	n/a
34	chr4:3766151-3766201	H1-hESC	embryonic stem cell:	embryo
35	chr4:3766151-3766201	A549	lung:	n/a
36	chr4:3765047-3765097	NT2-D1	testis:	n/a
37	chr4:3766151-3766201	ProgFib	skin:	n/a
38	chr4:3766151-3766201	NT2-D1	testis:	n/a
39	chr4:3765047-3765097	HRPEpiC	eye:	n/a
40	chr4:3766151-3766201	NB4	blood:	n/a
41	chr4:3766151-3766201	HCPEpiC	choroid plexus:	n/a
42	chr4:3765047-3765097	AoSMC	blood vessel:	n/a
43	chr4:3766151-3766201	HEEpiC	esophagus:	n/a
44	chr4:3766151-3766201	PrEC	prostate:	n/a
45	chr4:3765047-3765097	HUVEC	blood vessel:	n/a
46	chr4:3766151-3766201	SKMC	muscle:	n/a
47	chr4:3765047-3765097	HEEpiC	esophagus:	n/a
48	chr4:3766151-3766201	PFSK-1	brain:	n/a
49	chr4:3765047-3765097	PrEC	prostate:	n/a
50	chr4:3766151-3766201	ovcar-3	ovarian:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:3764325..3766691-chr4:3767145..3769852,3	MCF-7	breast:
2	chr4:3754576..3757273-chr4:3765729..3767791,3	MCF-7	breast:
3	chr4:3532933..3534970-chr4:3765784..3768236,2	MCF-7	breast:
4	chr4:3750111..3752894-chr4:3765280..3767505,2	MCF-7	breast:
5	chr4:3710796..3712372-chr4:3766142..3767754,2	MCF-7	breast:
6	chr19:54974695..54977436-chr4:3766258..3768919,2	MCF-7	breast:
7	chr4:3754355..3758397-chr4:3760571..3763729,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRPAP1-3	chr4:3761872-3765117	XLOC_003862

No data

Variant related genes	Relation type
ENSG00000250986	TF binding region
ADRA2C	TF binding region
ENSG00000250986	CpG island
ADRA2C	CpG island
ENSG00000163956	chromatin interactions
ENSG00000182909	chromatin interactions
ENSG00000184160	chromatin interactions

Extended variants
information (count: 218 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:218 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117523737	chr4:3762171-3762172	Genic enhancers Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
2	rs548266027	chr4:3762188-3762189	Genic enhancers Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
3	rs569629523	chr4:3762227-3762228	Enhancers Genic enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs533793792	chr4:3762231-3762232	Enhancers Genic enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs115043491	chr4:3762271-3762272	Enhancers Genic enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs534362302	chr4:3762275-3762276	Enhancers Genic enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs149064126	chr4:3762354-3762355	Enhancers Genic enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs577457865	chr4:3762360-3762361	Enhancers Genic enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs555255742	chr4:3762379-3762380	Enhancers Genic enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs372252784	chr4:3762387-3762388	Enhancers Genic enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs573728274	chr4:3762393-3762394	Enhancers Genic enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs7438650	chr4:3762437-3762438	Enhancers Genic enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs544210503	chr4:3762465-3762466	Enhancers Genic enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs541937055	chr4:3762470-3762471	Enhancers Genic enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs116377747	chr4:3762480-3762481	Enhancers Genic enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs112819199	chr4:3762486-3762487	Enhancers Genic enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs540020959	chr4:3762493-3762494	Enhancers Genic enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs143111882	chr4:3762507-3762508	Enhancers Genic enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs532431807	chr4:3762520-3762521	Enhancers Genic enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs552138453	chr4:3762528-3762529	Enhancers Genic enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs7441435	chr4:3762529-3762530	Enhancers Genic enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs531296085	chr4:3762626-3762627	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
23	rs548326147	chr4:3762647-3762648	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
24	rs568139419	chr4:3762677-3762678	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
25	rs527929089	chr4:3762696-3762697	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
26	rs547966864	chr4:3762747-3762748	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
27	rs116160936	chr4:3762758-3762759	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
28	rs202170945	chr4:3762774-3762775	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
29	rs553756363	chr4:3762812-3762813	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
30	rs570056453	chr4:3762826-3762827	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
31	rs115323981	chr4:3762850-3762851	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
32	rs7436929	chr4:3762919-3762920	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs528517603	chr4:3762939-3762940	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
34	rs572195625	chr4:3763016-3763017	Weak transcription Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs151196932	chr4:3763028-3763029	Weak transcription Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs181523756	chr4:3763031-3763032	Weak transcription Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs576921671	chr4:3763045-3763046	Weak transcription Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs111672413	chr4:3763069-3763070	Weak transcription Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs374774126	chr4:3763074-3763075	Weak transcription Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs141437726	chr4:3763076-3763077	Weak transcription Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs531360864	chr4:3763168-3763169	Weak transcription Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs541837717	chr4:3763186-3763187	Weak transcription Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs114193019	chr4:3763190-3763191	Weak transcription Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs527386745	chr4:3763210-3763211	Weak transcription Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs77134249	chr4:3763242-3763243	Weak transcription Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs7680418	chr4:3763325-3763326	Weak transcription Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs565382318	chr4:3763327-3763328	Weak transcription Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs7680433	chr4:3763359-3763360	Weak transcription Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs560553227	chr4:3763360-3763361	Weak transcription Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs73078607	chr4:3763380-3763381	Weak transcription Bivalent Enhancer Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	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
Urothelial carcinoma	21177765	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
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3750000-3763200	Weak transcription	Pancreas	Pancrea
2	chr4:3756200-3764000	Weak transcription	Fetal Kidney	kidney
3	chr4:3761400-3762200	ZNF genes & repeats	Spleen	Spleen
4	chr4:3761400-3762600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:3761800-3766600	Weak transcription	HSMM	muscle
6	chr4:3762000-3762200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:3762000-3763000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:3762000-3765800	Weak transcription	Aorta	Aorta
9	chr4:3762200-3762400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:3762200-3762600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr4:3762200-3765400	Weak transcription	Spleen	Spleen
12	chr4:3762400-3763200	Enhancers	Fetal Brain Male	brain
13	chr4:3762400-3766800	Weak transcription	Right Atrium	heart
14	chr4:3762600-3763000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:3762600-3763800	Bivalent Enhancer	Fetal Stomach	stomach
16	chr4:3762600-3765400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr4:3763000-3763200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:3763000-3763200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:3763000-3763200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr4:3763000-3765400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:3763000-3766800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr4:3763200-3764000	Enhancers	Pancreas	Pancrea
23	chr4:3763200-3765200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr4:3763800-3764000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr4:3764000-3764200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr4:3764000-3764400	ZNF genes & repeats	Fetal Kidney	kidney
27	chr4:3764000-3766000	Weak transcription	Pancreas	Pancrea
28	chr4:3764400-3764600	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
29	chr4:3764400-3767400	Weak transcription	Fetal Kidney	kidney
30	chr4:3764600-3766000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr4:3764800-3765800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:3765000-3765400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr4:3765200-3765400	Bivalent Enhancer	Fetal Stomach	stomach
34	chr4:3765200-3766000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr4:3765400-3765600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr4:3765400-3765800	Bivalent Enhancer	Fetal Muscle Leg	muscle
37	chr4:3765400-3766000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr4:3765400-3766000	Enhancers	Spleen	Spleen
39	chr4:3765400-3766800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
40	chr4:3765800-3766000	Enhancers	Aorta	Aorta
41	chr4:3765800-3766000	Enhancers	Brain Anterior Caudate	brain
42	chr4:3765800-3766200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
43	chr4:3765800-3766200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
44	chr4:3766000-3766600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr4:3766000-3766600	Weak transcription	Aorta	Aorta
46	chr4:3766000-3766800	Weak transcription	Brain Anterior Caudate	brain
47	chr4:3766000-3767000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr4:3766000-3767000	Enhancers	Pancreas	Pancrea
49	chr4:3766000-3767000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
50	chr4:3766000-3767400	Bivalent Enhancer	Spleen	Spleen

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