Variant report

Variant	esv3418115
Chromosome Location	chr4:152174852-152177850
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	FOXA2	chr4:152175520-152175849	A549	lung:	n/a	n/a
2	HNF4A	chr4:152177317-152177552	HepG2	liver:	n/a	chr4:152177476-152177491 chr4:152177472-152177494 chr4:152177476-152177489 chr4:152177477-152177489 chr4:152177477-152177490 chr4:152177477-152177485 chr4:152177476-152177489 chr4:152177476-152177490 chr4:152177477-152177489 chr4:152177476-152177490 chr4:152177475-152177490 chr4:152177475-152177483 chr4:152177476-152177491 chr4:152177474-152177492
3	HNF4A	chr4:152177414-152177560	HepG2	liver:	n/a	chr4:152177476-152177491 chr4:152177472-152177494 chr4:152177476-152177489 chr4:152177477-152177489 chr4:152177477-152177490 chr4:152177477-152177485 chr4:152177476-152177489 chr4:152177476-152177490 chr4:152177477-152177489 chr4:152177476-152177490 chr4:152177475-152177490 chr4:152177475-152177483 chr4:152177476-152177491 chr4:152177474-152177492
4	NR2F2	chr4:152175510-152175821	K562	blood:	n/a	n/a
5	NR2F2	chr4:152175477-152175862	K562	blood:	n/a	n/a
6	PAX5	chr4:152176896-152177146	GM12878	blood:	n/a	n/a
7	PAX5	chr4:152176838-152177145	GM12878	blood:	n/a	n/a
8	PAX5	chr4:152176811-152177169	GM12878	blood:	n/a	n/a
9	POLR2A	chr4:152174982-152175240	HepG2	liver:	n/a	n/a
10	TAL1	chr4:152175110-152175239	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:152176671-152176721	U87	brain:	n/a
2	chr4:152176671-152176721	PANC-1	pancreas:	n/a
3	chr4:152176671-152176721	H1-hESC	embryonic stem cell:	embryo
4	chr4:152176671-152176721	AG10803	skin:	n/a
5	chr4:152176671-152176721	T-47D	breast:	n/a
6	chr4:152176671-152176721	NH-A	brain:	n/a
7	chr4:152176671-152176721	HAEpiC	amniotic membrane:	n/a
8	chr4:152176671-152176721	NB4	blood:	n/a
9	chr4:152176671-152176721	HRCEpiC	kidney:	n/a
10	chr4:152176671-152176721	HL-60	blood:	n/a
11	chr4:152176671-152176721	SK-N-MC	brain:	n/a
12	chr4:152176671-152176721	ProgFib	skin:	n/a
13	chr4:152176671-152176721	AG09319	gingival:	n/a
14	chr4:152176671-152176721	PrEC	prostate:	n/a
15	chr4:152176671-152176721	A549	lung:	n/a
16	chr4:152176671-152176721	SAEC	small airway:	n/a
17	chr4:152176671-152176721	SK-N-SH_RA	brain:	n/a
18	chr4:152176671-152176721	ovcar-3	ovarian:	n/a
19	chr4:152176671-152176721	LNCaP	prostate:	n/a
20	chr4:152176671-152176721	NT2-D1	testis:	n/a
21	chr4:152176671-152176721	HUVEC	blood vessel:	n/a
22	chr4:152176671-152176721	SK-N-SH	brain:	n/a
23	chr4:152176671-152176721	Jurkat	blood:	n/a
24	chr4:152176671-152176721	IMR90	lung:	fetal
25	chr4:152176671-152176721	SKMC	muscle:	n/a
26	chr4:152176671-152176721	MCF-7	breast:	n/a
27	chr4:152176671-152176721	Hepatocyte	liver:	n/a
28	chr4:152176671-152176721	HNPCEpiC	eye:	n/a
29	chr4:152176671-152176721	AoSMC	blood vessel:	n/a
30	chr4:152176671-152176721	HEEpiC	esophagus:	n/a
31	chr4:152176671-152176721	HRPEpiC	eye:	n/a
32	chr4:152176671-152176721	GM06990	blood:	n/a
33	chr4:152176671-152176721	HCF	heart:	n/a
34	chr4:152176671-152176721	AG09309	skin:	n/a
35	chr4:152176671-152176721	GM12878	blood:	n/a
36	chr4:152176671-152176721	Caco-2	colon:	n/a
37	chr4:152176671-152176721	K562	blood:	n/a
38	chr4:152176671-152176721	Hela-S3	cervix:	n/a
39	chr4:152176671-152176721	NHBE	bronchial:	n/a
40	chr4:152176671-152176721	ECC-1	luminal epithelium:	n/a
41	chr4:152176671-152176721	HEK293	kidney:	embryo
42	chr4:152176671-152176721	BE2_C	brain:	n/a
43	chr4:152176671-152176721	HPAEpiC	pulmonary alveolar:	n/a
44	chr4:152176671-152176721	RPTEC	kidney:	n/a
45	chr4:152176671-152176721	AG04450	lung:	fetal
46	chr4:152176671-152176721	CMK	blood:	n/a
47	chr4:152176671-152176721	HCM	heart:	n/a
48	chr4:152176671-152176721	HCT-116	colon:	n/a
49	chr4:152176671-152176721	BJ	skin:	n/a
50	chr4:152176671-152176721	HRE	kidney:	n/a

Variant related genes	Relation type
ENSG00000249012	TF binding region
ENSG00000249012	CpG island

Extended variants
information (count: 163 )
Associated
traits (count: 74 )

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	rs112655249	chr4:152174871-152174872	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76589116	chr4:152174879-152174880	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528535769	chr4:152174887-152174888	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149060405	chr4:152174893-152174894	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs58761641	chr4:152174894-152174895	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558168093	chr4:152174906-152174907	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10593842	chr4:152174907-152174908	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200980890	chr4:152174911-152174912	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368369876	chr4:152174913-152174914	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548657544	chr4:152174914-152174915	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs71618367	chr4:152174918-152174919	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550142894	chr4:152174919-152174920	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569545336	chr4:152174922-152174923	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs377089215	chr4:152174936-152174937	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538881837	chr4:152174937-152174938	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546703264	chr4:152174957-152174958	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145625292	chr4:152175030-152175031	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188639890	chr4:152175040-152175041	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550796188	chr4:152175042-152175043	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75521524	chr4:152175077-152175078	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536999096	chr4:152175106-152175107	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs377128945	chr4:152175128-152175129	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7663659	chr4:152175168-152175169	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs535794402	chr4:152175178-152175179	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534386925	chr4:152175181-152175182	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553126321	chr4:152175206-152175207	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs180692355	chr4:152175242-152175243	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545210583	chr4:152175265-152175266	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142801916	chr4:152175269-152175270	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557183622	chr4:152175270-152175271	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542912079	chr4:152175277-152175278	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561089790	chr4:152175310-152175311	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs141853694	chr4:152175338-152175339	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186041742	chr4:152175341-152175342	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528505422	chr4:152175396-152175397	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs202033680	chr4:152175432-152175433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546615028	chr4:152175438-152175439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146365543	chr4:152175439-152175440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190955850	chr4:152175446-152175447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143764897	chr4:152175449-152175450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369440620	chr4:152175450-152175451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76523570	chr4:152175472-152175473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200347977	chr4:152175473-152175474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532509973	chr4:152175475-152175476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550759097	chr4:152175487-152175488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569436754	chr4:152175528-152175529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536505682	chr4:152175543-152175544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548879575	chr4:152175546-152175547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567124039	chr4:152175569-152175570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs55670447	chr4:152175618-152175619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	17588203	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152130200-152187800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr4:152149200-152185200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:152149200-152197600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr4:152156000-152179800	Weak transcription	Fetal Stomach	stomach
5	chr4:152158800-152178800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:152158800-152181800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:152164800-152176800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr4:152165400-152189000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr4:152169400-152176600	Weak transcription	Fetal Intestine Large	intestine
10	chr4:152169600-152176600	Weak transcription	Fetal Intestine Small	intestine
11	chr4:152171000-152175200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr4:152172200-152175800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr4:152172200-152178600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr4:152172200-152183400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr4:152172200-152184000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:152172200-152184000	Weak transcription	Lung	lung
17	chr4:152172800-152190600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr4:152173000-152184000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:152173400-152176800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr4:152173400-152180600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:152173400-152189400	Weak transcription	Aorta	Aorta
22	chr4:152173600-152175000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr4:152173600-152176400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr4:152173800-152198200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:152174000-152177200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:152174000-152177400	Weak transcription	Colon Smooth Muscle	Colon
27	chr4:152174000-152178800	Weak transcription	Brain Substantia Nigra	brain
28	chr4:152174000-152179600	Weak transcription	Ovary	ovary
29	chr4:152174000-152187200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:152174000-152192200	Weak transcription	Brain Angular Gyrus	brain
31	chr4:152174200-152183200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr4:152174200-152183400	Weak transcription	Right Atrium	heart
33	chr4:152174200-152183600	Weak transcription	Brain Anterior Caudate	brain
34	chr4:152174400-152175400	Genic enhancers	HepG2	liver
35	chr4:152174400-152177000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr4:152174400-152178800	Weak transcription	Fetal Heart	heart
37	chr4:152174400-152183800	Weak transcription	Brain Hippocampus Middle	brain
38	chr4:152174600-152177200	Weak transcription	Liver	Liver
39	chr4:152174600-152178000	Weak transcription	Pancreas	Pancrea
40	chr4:152174600-152179600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr4:152174600-152181800	Weak transcription	Left Ventricle	heart
42	chr4:152174600-152182400	Weak transcription	Psoas Muscle	Psoas
43	chr4:152174800-152176800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr4:152175000-152175200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
45	chr4:152175200-152178800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr4:152175200-152183600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr4:152175400-152177400	Weak transcription	HepG2	liver
48	chr4:152176000-152177400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr4:152176000-152180000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr4:152176400-152177400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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