Variant report

Variant	esv3356953
Chromosome Location	chr4:175301838-175304939
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr4:175304202-175304797	K562	blood:	n/a	n/a
2	CTCF	chr4:175304480-175304630	Caco-2	colon:	n/a	n/a
3	CTCF	chr4:175304340-175304490	SAEC	small airway:	n/a	n/a
4	CTCF	chr4:175304453-175304585	K562	blood:	n/a	n/a
5	CTCF	chr4:175304340-175304490	HEEpiC	esophagus:	n/a	n/a
6	CTCF	chr4:175304440-175304590	Caco-2	colon:	n/a	n/a
7	CTCF	chr4:175304447-175304574	A549	lung:	n/a	n/a
8	CTCF	chr4:175304480-175304630	WERI-Rb-1	eye:	n/a	n/a
9	FOXA2	chr4:175304186-175304613	A549	lung:	n/a	n/a
10	FOXA2	chr4:175304073-175304765	A549	lung:	n/a	n/a
11	GATA2	chr4:175304275-175304867	K562	blood:	n/a	n/a
12	MAX	chr4:175304276-175304699	K562	blood:	n/a	n/a
13	MAX	chr4:175304289-175304436	K562	blood:	n/a	n/a
14	MYC	chr4:175304466-175304490	K562	blood:	n/a	n/a
15	NR3C1	chr4:175304074-175304728	A549	lung:	n/a	n/a
16	NR3C1	chr4:175304262-175304532	A549	lung:	n/a	n/a
17	NR3C1	chr4:175304190-175304613	A549	lung:	n/a	n/a
18	NR3C1	chr4:175304046-175304784	A549	lung:	n/a	chr4:175304068-175304084 chr4:175304069-175304083 chr4:175304068-175304084
19	NR3C1	chr4:175304192-175304630	A549	lung:	n/a	n/a
20	NR3C1	chr4:175304218-175304545	A549	lung:	n/a	n/a
21	POLR2A	chr4:175304428-175304550	A549	lung:	n/a	n/a
22	POLR2A	chr4:175302606-175302796	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr4:175304303-175304893	H1-hESC	embryonic stem cell:	n/a	n/a
24	SP1	chr4:175304089-175304833	A549	lung:	n/a	n/a
25	SP1	chr4:175304052-175304616	A549	lung:	n/a	n/a
26	SPI1	chr4:175304522-175304730	K562	blood:	n/a	n/a
27	SPI1	chr4:175304548-175304750	K562	blood:	n/a	n/a
28	TAL1	chr4:175304386-175304560	K562	blood:	n/a	n/a
29	TCF12	chr4:175304040-175304816	A549	lung:	n/a	n/a
30	USF1	chr4:175304393-175304643	K562	blood:	n/a	n/a
31	USF1	chr4:175304216-175304607	A549	lung:	n/a	n/a
32	YY1	chr4:175302616-175302883	A549	lung:	n/a	n/a
33	YY1	chr4:175303979-175304604	A549	lung:	n/a	n/a
34	YY1	chr4:175302623-175302915	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:175302153-175302203	HIPEpiC	eye:	n/a
2	chr4:175302153-175302203	MCF10A-Er-Src	breast:	n/a
3	chr4:175302153-175302203	ECC-1	luminal epithelium:	n/a
4	chr4:175302153-175302203	NHDF-neo	bronchial:	n/a
5	chr4:175302153-175302203	Caco-2	colon:	n/a
6	chr4:175302153-175302203	AG10803	skin:	n/a
7	chr4:175302153-175302203	GM12891	blood:	n/a
8	chr4:175302153-175302203	AG04449	skin:	fetal
9	chr4:175302153-175302203	GM12892	blood:	n/a
10	chr4:175302153-175302203	CMK	blood:	n/a
11	chr4:175302153-175302203	HUVEC	blood vessel:	n/a
12	chr4:175302153-175302203	HPAEpiC	pulmonary alveolar:	n/a
13	chr4:175302153-175302203	HepG2	liver:	n/a
14	chr4:175302153-175302203	AoSMC	blood vessel:	n/a
15	chr4:175302153-175302203	HRCEpiC	kidney:	n/a
16	chr4:175302153-175302203	H1-hESC	embryonic stem cell:	embryo
17	chr4:175302153-175302203	AG04450	lung:	fetal
18	chr4:175302153-175302203	HCF	heart:	n/a
19	chr4:175302153-175302203	Jurkat	blood:	n/a
20	chr4:175302153-175302203	LNCaP	prostate:	n/a
21	chr4:175302153-175302203	SAEC	small airway:	n/a
22	chr4:175302153-175302203	GM19239	blood:	n/a
23	chr4:175302153-175302203	A549	lung:	n/a
24	chr4:175302153-175302203	HAEpiC	amniotic membrane:	n/a
25	chr4:175302153-175302203	ovcar-3	ovarian:	n/a
26	chr4:175302153-175302203	Hela-S3	cervix:	n/a
27	chr4:175302153-175302203	SK-N-SH	brain:	n/a
28	chr4:175302153-175302203	HCPEpiC	choroid plexus:	n/a
29	chr4:175302153-175302203	PANC-1	pancreas:	n/a
30	chr4:175302153-175302203	T-47D	breast:	n/a
31	chr4:175302153-175302203	NT2-D1	testis:	n/a
32	chr4:175302153-175302203	HNPCEpiC	eye:	n/a
33	chr4:175302153-175302203	PFSK-1	brain:	n/a
34	chr4:175302153-175302203	RPTEC	kidney:	n/a
35	chr4:175302153-175302203	GM06990	blood:	n/a
36	chr4:175302153-175302203	IMR90	lung:	fetal
37	chr4:175302153-175302203	SK-N-SH_RA	brain:	n/a
38	chr4:175302153-175302203	K562	blood:	n/a
39	chr4:175302153-175302203	HEEpiC	esophagus:	n/a
40	chr4:175302153-175302203	MCF-7	breast:	n/a
41	chr4:175302153-175302203	HCM	heart:	n/a
42	chr4:175302153-175302203	BE2_C	brain:	n/a
43	chr4:175302153-175302203	U87	brain:	n/a
44	chr4:175302153-175302203	BJ	skin:	n/a
45	chr4:175302153-175302203	NH-A	brain:	n/a
46	chr4:175302153-175302203	Hepatocyte	liver:	n/a
47	chr4:175302153-175302203	HRPEpiC	eye:	n/a
48	chr4:175302153-175302203	GM12878	blood:	n/a
49	chr4:175302153-175302203	HRE	kidney:	n/a
50	chr4:175302153-175302203	HL-60	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:175297581..175300515-chr4:175303674..175306572,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000249875	TF binding region
ENSG00000249875	CpG island
ENSG00000249875	chromatin interactions

Extended variants
information (count: 139 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370658820	chr4:175301859-175301860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189591281	chr4:175301866-175301867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78395863	chr4:175301868-175301869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139884108	chr4:175301885-175301886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78742213	chr4:175301899-175301900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530119960	chr4:175301911-175301912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543899546	chr4:175301935-175301936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563778909	chr4:175301949-175301950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373464622	chr4:175301950-175301951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370841677	chr4:175301968-175301969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374268404	chr4:175301974-175301975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368182906	chr4:175301978-175301979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371573384	chr4:175301981-175301982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374596441	chr4:175301990-175301991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35697391	chr4:175301991-175301992	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs13150431	chr4:175301995-175301996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374384098	chr4:175301999-175302000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs367586230	chr4:175302000-175302001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372853888	chr4:175302011-175302012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566348938	chr4:175302014-175302015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368014347	chr4:175302020-175302021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528812677	chr4:175302031-175302032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372148670	chr4:175302037-175302038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540171163	chr4:175302038-175302039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567929116	chr4:175302060-175302061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115258287	chr4:175302091-175302092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556633516	chr4:175302124-175302125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570251608	chr4:175302145-175302146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7672521	chr4:175302173-175302174	Enhancers Weak transcription	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs551950590	chr4:175302176-175302177	Enhancers Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
31	rs184153431	chr4:175302195-175302196	Enhancers Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
32	rs139895804	chr4:175302196-175302197	Enhancers Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
33	rs6828296	chr4:175302212-175302213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141094254	chr4:175302261-175302262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574698382	chr4:175302317-175302318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543887708	chr4:175302361-175302362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368024300	chr4:175302368-175302369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62335848	chr4:175302370-175302371	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs146938316	chr4:175302380-175302381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77426440	chr4:175302485-175302486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562532774	chr4:175302504-175302505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369501166	chr4:175302509-175302510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186998553	chr4:175302514-175302515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528701298	chr4:175302599-175302600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533754230	chr4:175302618-175302619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6835446	chr4:175302624-175302625	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs547169459	chr4:175302631-175302632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560430683	chr4:175302674-175302675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200749225	chr4:175302733-175302734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147584203	chr4:175302782-175302783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
Acute lymphoblastic leukemia	20067559	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
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	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
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD
Cancer	20164919	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175291600-175302000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:175297000-175304400	Weak transcription	K562	blood
3	chr4:175297400-175304800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:175299000-175302000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:175299000-175302600	Weak transcription	Stomach Mucosa	stomach
6	chr4:175299000-175303200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:175300400-175303200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr4:175300400-175303400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr4:175300600-175302800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr4:175300600-175303600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr4:175300600-175305000	Weak transcription	A549	lung
12	chr4:175300800-175302800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr4:175301200-175305000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr4:175301400-175302000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:175301400-175302000	Enhancers	NHEK	skin
16	chr4:175301400-175302200	Enhancers	Placenta	Placenta
17	chr4:175301400-175303600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr4:175301600-175302000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:175301600-175302000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:175301600-175303000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr4:175301800-175302200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr4:175301800-175302200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:175301800-175303400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr4:175301800-175303600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:175301800-175310600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:175302000-175302200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr4:175302000-175302200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr4:175302000-175303000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr4:175302000-175303200	Enhancers	H9 Cell Line	embryonic stem cell
30	chr4:175302200-175303200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr4:175302200-175305000	Weak transcription	Placenta	Placenta
32	chr4:175302400-175305000	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr4:175302800-175305000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr4:175303200-175304200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:175303200-175304400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr4:175303200-175304400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr4:175303400-175304400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr4:175303400-175304400	Enhancers	Fetal Intestine Small	intestine
39	chr4:175303400-175305600	Enhancers	Fetal Intestine Large	intestine
40	chr4:175303400-175308200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr4:175303600-175304400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr4:175303600-175305000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:175304000-175304600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr4:175304200-175304600	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr4:175304400-175304600	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr4:175304400-175304800	Weak transcription	Fetal Intestine Small	intestine
47	chr4:175304400-175305200	Enhancers	H9 Cell Line	embryonic stem cell
48	chr4:175304400-175305400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr4:175304400-175305400	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr4:175304400-175305400	Enhancers	Primary hematopoietic stem cells	blood

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