Variant report

Variant	esv3387352
Chromosome Location	chr4:3762754-3765752
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 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	chr4:3764881-3765191	NB4	blood:	n/a	n/a
7	NR3C1	chr4:3764820-3765171	A549	lung:	n/a	n/a
8	NR3C1	chr4:3764887-3765074	A549	lung:	n/a	n/a
9	POLR2A	chr4:3764229-3764431	HepG2	liver:	n/a	n/a
10	SPI1	chr4:3764779-3765287	HL-60	blood:	n/a	n/a
11	SUZ12	chr4:3763955-3764546	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:3765047-3765097	HRE	kidney:	n/a
2	chr4:3765047-3765097	GM19239	blood:	n/a
3	chr4:3765047-3765097	K562	blood:	n/a
4	chr4:3765047-3765097	ProgFib	skin:	n/a
5	chr4:3765047-3765097	U87	brain:	n/a
6	chr4:3765047-3765097	PFSK-1	brain:	n/a
7	chr4:3765047-3765097	BJ	skin:	n/a
8	chr4:3765047-3765097	HPAEpiC	pulmonary alveolar:	n/a
9	chr4:3765047-3765097	BE2_C	brain:	n/a
10	chr4:3765047-3765097	HUVEC	blood vessel:	n/a
11	chr4:3765047-3765097	HCM	heart:	n/a
12	chr4:3765047-3765097	NHBE	bronchial:	n/a
13	chr4:3765047-3765097	HRPEpiC	eye:	n/a
14	chr4:3765047-3765097	Hela-S3	cervix:	n/a
15	chr4:3765047-3765097	GM12892	blood:	n/a
16	chr4:3765047-3765097	Jurkat	blood:	n/a
17	chr4:3765047-3765097	NHDF-neo	bronchial:	n/a
18	chr4:3765047-3765097	AG04450	lung:	fetal
19	chr4:3765047-3765097	HIPEpiC	eye:	n/a
20	chr4:3765047-3765097	ovcar-3	ovarian:	n/a
21	chr4:3765047-3765097	AoSMC	blood vessel:	n/a
22	chr4:3765047-3765097	NH-A	brain:	n/a
23	chr4:3765047-3765097	HEK293	kidney:	embryo
24	chr4:3765047-3765097	HCF	heart:	n/a
25	chr4:3765047-3765097	HMEC	breast:	n/a
26	chr4:3765047-3765097	T-47D	breast:	n/a
27	chr4:3765047-3765097	AG10803	skin:	n/a
28	chr4:3765047-3765097	HEEpiC	esophagus:	n/a
29	chr4:3765047-3765097	ECC-1	luminal epithelium:	n/a
30	chr4:3765047-3765097	HRCEpiC	kidney:	n/a
31	chr4:3765047-3765097	HCPEpiC	choroid plexus:	n/a
32	chr4:3765047-3765097	HCT-116	colon:	n/a
33	chr4:3765047-3765097	NB4	blood:	n/a
34	chr4:3765047-3765097	Hepatocyte	liver:	n/a
35	chr4:3765047-3765097	GM12878	blood:	n/a
36	chr4:3765047-3765097	SKMC	muscle:	n/a
37	chr4:3765047-3765097	A549	lung:	n/a
38	chr4:3765047-3765097	SK-N-MC	brain:	n/a
39	chr4:3765047-3765097	HAEpiC	amniotic membrane:	n/a
40	chr4:3765047-3765097	LNCaP	prostate:	n/a
41	chr4:3765047-3765097	PrEC	prostate:	n/a
42	chr4:3765047-3765097	IMR90	lung:	fetal
43	chr4:3765047-3765097	NT2-D1	testis:	n/a
44	chr4:3765047-3765097	SAEC	small airway:	n/a
45	chr4:3765047-3765097	GM06990	blood:	n/a
46	chr4:3765047-3765097	CMK	blood:	n/a
47	chr4:3765047-3765097	GM12891	blood:	n/a
48	chr4:3765047-3765097	MCF10A-Er-Src	breast:	n/a
49	chr4:3765047-3765097	PANC-1	pancreas:	n/a
50	chr4:3765047-3765097	HepG2	liver:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr4:3754576..3757273-chr4:3765729..3767791,3	MCF-7	breast:
2	chr4:3754355..3758397-chr4:3760571..3763729,4	K562	blood:
3	chr4:3750111..3752894-chr4:3765280..3767505,2	MCF-7	breast:
4	chr4:3764325..3766691-chr4:3767145..3769852,3	MCF-7	breast:

(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
ENSG00000184160	chromatin interactions

Extended variants
information (count: 163 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:163 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116160936	chr4:3762758-3762759	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
2	rs202170945	chr4:3762774-3762775	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
3	rs553756363	chr4:3762812-3762813	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
4	rs570056453	chr4:3762826-3762827	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
5	rs115323981	chr4:3762850-3762851	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
6	rs7436929	chr4:3762919-3762920	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs528517603	chr4:3762939-3762940	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
8	rs572195625	chr4:3763016-3763017	Weak transcription Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs151196932	chr4:3763028-3763029	Weak transcription Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs181523756	chr4:3763031-3763032	Weak transcription Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs576921671	chr4:3763045-3763046	Weak transcription Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs111672413	chr4:3763069-3763070	Weak transcription Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs374774126	chr4:3763074-3763075	Weak transcription Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs141437726	chr4:3763076-3763077	Weak transcription Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs531360864	chr4:3763168-3763169	Weak transcription Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs541837717	chr4:3763186-3763187	Weak transcription Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs114193019	chr4:3763190-3763191	Weak transcription Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs527386745	chr4:3763210-3763211	Weak transcription Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs77134249	chr4:3763242-3763243	Weak transcription Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs7680418	chr4:3763325-3763326	Weak transcription Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs565382318	chr4:3763327-3763328	Weak transcription Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs7680433	chr4:3763359-3763360	Weak transcription Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs560553227	chr4:3763360-3763361	Weak transcription Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs73078607	chr4:3763380-3763381	Weak transcription Bivalent Enhancer Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs7680600	chr4:3763394-3763395	Weak transcription Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs139019122	chr4:3763426-3763427	Weak transcription Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs570002361	chr4:3763454-3763455	Weak transcription Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs535494425	chr4:3763472-3763473	Weak transcription Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs141576092	chr4:3763517-3763518	Weak transcription Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs565688740	chr4:3763551-3763552	Weak transcription Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs7655303	chr4:3763593-3763594	Weak transcription Bivalent Enhancer Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs527802478	chr4:3763604-3763605	Weak transcription Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs150408715	chr4:3763610-3763611	Weak transcription Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs576987571	chr4:3763633-3763634	Weak transcription Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs7655509	chr4:3763701-3763702	Weak transcription Bivalent Enhancer Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs565700984	chr4:3763710-3763711	Weak transcription Bivalent Enhancer Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs28551681	chr4:3763715-3763716	Weak transcription Bivalent Enhancer Enhancers	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs372433510	chr4:3763757-3763758	Weak transcription Bivalent Enhancer Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs576401524	chr4:3763776-3763777	Weak transcription Bivalent Enhancer Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs7655499	chr4:3763780-3763781	Weak transcription Bivalent Enhancer Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs376692531	chr4:3763791-3763792	Weak transcription Bivalent Enhancer Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs370188059	chr4:3763792-3763793	Weak transcription Bivalent Enhancer Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs527246515	chr4:3763848-3763849	Weak transcription Bivalent Enhancer Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs7686276	chr4:3763900-3763901	Weak transcription Bivalent Enhancer Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs541145664	chr4:3763902-3763903	Weak transcription Bivalent Enhancer Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs564005606	chr4:3763913-3763914	Weak transcription Bivalent Enhancer Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs533611654	chr4:3763922-3763923	Weak transcription Bivalent Enhancer Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs550095857	chr4:3763930-3763931	Weak transcription Bivalent Enhancer Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs138189477	chr4:3763935-3763936	Weak transcription Bivalent Enhancer Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs76143538	chr4:3763936-3763937	Weak transcription Bivalent Enhancer Enhancers	TF binding region lncRNA	1 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
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:34 , 50 per page) page: 1

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	chr4:3761800-3766600	Weak transcription	HSMM	muscle
4	chr4:3762000-3763000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:3762000-3765800	Weak transcription	Aorta	Aorta
6	chr4:3762200-3765400	Weak transcription	Spleen	Spleen
7	chr4:3762400-3763200	Enhancers	Fetal Brain Male	brain
8	chr4:3762400-3766800	Weak transcription	Right Atrium	heart
9	chr4:3762600-3763000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:3762600-3763800	Bivalent Enhancer	Fetal Stomach	stomach
11	chr4:3762600-3765400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr4:3763000-3763200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:3763000-3763200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:3763000-3763200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr4:3763000-3765400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:3763000-3766800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr4:3763200-3764000	Enhancers	Pancreas	Pancrea
18	chr4:3763200-3765200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:3763800-3764000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr4:3764000-3764200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr4:3764000-3764400	ZNF genes & repeats	Fetal Kidney	kidney
22	chr4:3764000-3766000	Weak transcription	Pancreas	Pancrea
23	chr4:3764400-3764600	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
24	chr4:3764400-3767400	Weak transcription	Fetal Kidney	kidney
25	chr4:3764600-3766000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr4:3764800-3765800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr4:3765000-3765400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr4:3765200-3765400	Bivalent Enhancer	Fetal Stomach	stomach
29	chr4:3765200-3766000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr4:3765400-3765600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr4:3765400-3765800	Bivalent Enhancer	Fetal Muscle Leg	muscle
32	chr4:3765400-3766000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:3765400-3766000	Enhancers	Spleen	Spleen
34	chr4:3765400-3766800	Bivalent Enhancer	Stomach Smooth Muscle	stomach

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