Variant report

Variant	esv3366299
Chromosome Location	chr4:48945095-48947243
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:48946653..48948896-chr4:48958919..48961929,3	MCF-7	breast:
2	chr4:48946560..48948277-chr4:48957901..48960344,2	K562	blood:
3	chr4:48946670..48947329-chr4:48964846..48965527,2	MCF-7	breast:
4	chr4:48907952..48908549-chr4:48945945..48946857,2	MCF-7	breast:
5	chr4:48945137..48946034-chr4:48964617..48965701,8	MCF-7	breast:
6	chr4:48940697..48943486-chr4:48944101..48946747,2	K562	blood:
7	chr4:48945599..48951626-chr4:48954985..48958451,5	MCF-7	breast:
8	chr4:48780496..48783040-chr4:48940414..48945541,4	MCF-7	breast:
9	chr4:48907439..48910223-chr4:48943864..48946792,2	MCF-7	breast:
10	chr4:48580476..48581095-chr4:48946367..48946964,2	K562	blood:
11	chr4:48945075..48945616-chr4:49030183..49030717,2	MCF-7	breast:
12	chr4:48907213..48908063-chr4:48944694..48945681,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000109182	chromatin interactions
ENSG00000075539	chromatin interactions
ENSG00000145247	chromatin interactions

Extended variants
information (count: 80 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538218095	chr4:48945156-48945157	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs556567208	chr4:48945267-48945268	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs574899758	chr4:48945349-48945350	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs149255477	chr4:48945363-48945364	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs147351279	chr4:48945394-48945395	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs531368456	chr4:48945575-48945576	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs372246994	chr4:48945586-48945587	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs572201063	chr4:48945648-48945649	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs545718823	chr4:48945654-48945655	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs377003499	chr4:48945663-48945664	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs564188702	chr4:48945756-48945757	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs34037831	chr4:48945758-48945759	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs575705637	chr4:48945814-48945815	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs13113577	chr4:48945835-48945836	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs112756200	chr4:48945877-48945878	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs375713563	chr4:48945907-48945908	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs56940909	chr4:48945916-48945917	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs13113629	chr4:48945917-48945918	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs13119141	chr4:48945931-48945932	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs13113793	chr4:48945939-48945940	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs13119297	chr4:48945941-48945942	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs200387867	chr4:48945952-48945953	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs13113811	chr4:48945959-48945960	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs13119309	chr4:48945963-48945964	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs7665104	chr4:48945971-48945972	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs535736922	chr4:48945973-48945974	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs59975935	chr4:48945981-48945982	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs60742974	chr4:48945983-48945984	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs13113836	chr4:48945993-48945994	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs377371530	chr4:48946020-48946021	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs370850092	chr4:48946026-48946027	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs370093165	chr4:48946028-48946029	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs374044975	chr4:48946030-48946031	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs374855982	chr4:48946033-48946034	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs28470594	chr4:48946037-48946038	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs201462394	chr4:48946108-48946109	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs561307053	chr4:48946111-48946112	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs71191277	chr4:48946129-48946130	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs367898341	chr4:48946130-48946131	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs370833716	chr4:48946134-48946135	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs374149491	chr4:48946136-48946137	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs28418993	chr4:48946138-48946139	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs529516281	chr4:48946261-48946262	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs548862851	chr4:48946279-48946280	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs547980537	chr4:48946283-48946284	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs78534061	chr4:48946307-48946308	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs77682794	chr4:48946311-48946312	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs139769772	chr4:48946313-48946314	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs566319544	chr4:48946318-48946319	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs183514936	chr4:48946415-48946416	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	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
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	16272173	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48940800-48946200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:48942600-48946200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr4:48942600-48946400	Weak transcription	NH-A	brain
4	chr4:48943000-48946200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:48943200-48945200	Weak transcription	HMEC	breast
6	chr4:48943200-48945600	Weak transcription	NHEK	skin
7	chr4:48944000-48945200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:48944200-48946200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:48944600-48946200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:48944600-48946400	Weak transcription	K562	blood
11	chr4:48945000-48946600	Enhancers	Primary T cells from cord blood	blood
12	chr4:48945200-48945600	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr4:48945200-48946800	Enhancers	HMEC	breast
14	chr4:48945200-48947000	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr4:48945200-48947400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:48945200-48956400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr4:48945400-48947400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr4:48945400-48947600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr4:48945600-48946000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr4:48945600-48947200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr4:48945600-48947400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:48945600-48947600	Enhancers	NHEK	skin
23	chr4:48946000-48947600	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr4:48946200-48946400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
25	chr4:48946200-48946400	Enhancers	Hela-S3	cervix
26	chr4:48946200-48946600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:48946200-48946600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr4:48946200-48946600	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr4:48946200-48946600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr4:48946200-48946600	Enhancers	Esophagus	oesophagus
31	chr4:48946200-48946600	Enhancers	Gastric	stomach
32	chr4:48946200-48946600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
33	chr4:48946200-48946600	Enhancers	HUVEC	blood vessel
34	chr4:48946200-48946800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:48946200-48946800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:48946200-48946800	Enhancers	Placenta Amnion	Placenta Amnion
37	chr4:48946200-48947200	Enhancers	H1 Cell Line	embryonic stem cell
38	chr4:48946200-48947200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:48946200-48947200	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr4:48946200-48947400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr4:48946200-48947400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:48946200-48947600	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr4:48946200-48947600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr4:48946200-48947600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr4:48946200-48949200	Enhancers	Stomach Mucosa	stomach
46	chr4:48946400-48946600	Enhancers	NHDF-Ad	bronchial
47	chr4:48946400-48946800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr4:48946400-48946800	Flanking Active TSS	Hela-S3	cervix
49	chr4:48946400-48946800	Enhancers	K562	blood
50	chr4:48946400-48947000	Enhancers	NH-A	brain

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