Variant report

Variant	esv3330279
Chromosome Location	chr4:1407477-1409825
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:1403430..1405914-chr4:1407635..1410239,2	K562	blood:
2	chr4:1407939..1411485-chr4:1412796..1414686,3	K562	blood:
3	chr4:1377745..1381712-chr4:1404525..1407958,3	K562	blood:
4	chr4:1397972..1400233-chr4:1406160..1408006,2	MCF-7	breast:
5	chr4:1380212..1382011-chr4:1405775..1407996,2	K562	blood:
6	chr4:1161155..1162765-chr4:1409545..1412011,2	K562	blood:
7	chr4:1409046..1411735-chr4:1580863..1583510,2	K562	blood:
8	chr4:1409330..1411890-chr4:1422180..1424077,2	K562	blood:
9	chr4:1398204..1402230-chr4:1405017..1407636,4	K562	blood:
10	chr4:1399892..1402246-chr4:1405982..1408064,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000235608	chromatin interactions
ENSG00000163945	chromatin interactions
ENSG00000273179	chromatin interactions
ENSG00000244459	chromatin interactions

Extended variants
information (count: 103 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139543257	chr4:1407533-1407534	Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs113693881	chr4:1407547-1407548	Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs369419482	chr4:1407554-1407555	Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs575413061	chr4:1407570-1407571	Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs374190279	chr4:1407646-1407647	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs370298163	chr4:1407664-1407665	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs550401985	chr4:1407670-1407671	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs183284252	chr4:1407683-1407684	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs560954928	chr4:1407692-1407693	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs572794794	chr4:1407726-1407727	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs200920146	chr4:1407791-1407792	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs533638901	chr4:1407832-1407833	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs551582231	chr4:1407853-1407854	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs563495145	chr4:1407874-1407875	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs568652831	chr4:1407879-1407880	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs530923546	chr4:1407943-1407944	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs187325340	chr4:1407962-1407963	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs191781492	chr4:1407964-1407965	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs528505539	chr4:1407991-1407992	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs546958888	chr4:1408012-1408013	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs183595788	chr4:1408022-1408023	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs13140229	chr4:1408034-1408035	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs557201779	chr4:1408088-1408089	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs569113012	chr4:1408089-1408090	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs13116994	chr4:1408097-1408098	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs55860925	chr4:1408124-1408125	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs554731199	chr4:1408176-1408177	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs59965981	chr4:1408184-1408185	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs57825078	chr4:1408197-1408198	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs61536011	chr4:1408232-1408233	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs574806816	chr4:1408234-1408235	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs61179444	chr4:1408237-1408238	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs56275035	chr4:1408238-1408239	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs55665896	chr4:1408249-1408250	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs539861416	chr4:1408254-1408255	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs59499379	chr4:1408257-1408258	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs61216876	chr4:1408294-1408295	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs56989334	chr4:1408299-1408300	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs60805003	chr4:1408300-1408301	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs58138394	chr4:1408311-1408312	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs546318101	chr4:1408327-1408328	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs558499177	chr4:1408356-1408357	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs578191052	chr4:1408359-1408360	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs545258932	chr4:1408360-1408361	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs113487539	chr4:1408449-1408450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563632578	chr4:1408463-1408464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531057606	chr4:1408482-1408483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542790888	chr4:1408687-1408688	Active TSS Genic enhancers Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372602285	chr4:1408706-1408707	Active TSS Genic enhancers Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs71614975	chr4:1408722-1408723	Active TSS Genic enhancers Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:61)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
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
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	20932292	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1399800-1411200	Weak transcription	Right Atrium	heart
2	chr4:1407000-1407800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:1407000-1408000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
4	chr4:1407000-1408000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:1407200-1407600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:1407200-1408000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr4:1407200-1408000	Bivalent Enhancer	Brain Germinal Matrix	brain
8	chr4:1407400-1407600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:1407400-1407600	Bivalent Enhancer	Ovary	ovary
10	chr4:1407400-1407800	Bivalent Enhancer	Fetal Brain Female	brain
11	chr4:1407400-1408400	Bivalent Enhancer	Fetal Brain Male	brain
12	chr4:1407600-1407800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
13	chr4:1407600-1407800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr4:1407600-1407800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr4:1407600-1407800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
16	chr4:1407600-1407800	Bivalent Enhancer	Brain Hippocampus Middle	brain
17	chr4:1407600-1407800	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
18	chr4:1407600-1407800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
19	chr4:1407600-1407800	Bivalent Enhancer	Lung	lung
20	chr4:1407600-1407800	Enhancers	Pancreas	Pancrea
21	chr4:1407600-1408000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
22	chr4:1407600-1408000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:1407600-1408000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
24	chr4:1407600-1408000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
25	chr4:1407600-1408000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr4:1407600-1408000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr4:1407800-1408000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr4:1407800-1408000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:1407800-1408000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
30	chr4:1407800-1408000	Bivalent/Poised TSS	Fetal Brain Female	brain
31	chr4:1407800-1408000	Bivalent Enhancer	Fetal Muscle Leg	muscle
32	chr4:1407800-1408000	Bivalent Enhancer	Fetal Stomach	stomach
33	chr4:1407800-1408800	Weak transcription	Pancreas	Pancrea
34	chr4:1408000-1408600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr4:1408600-1408800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr4:1408600-1408800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr4:1408600-1408800	Enhancers	K562	blood
38	chr4:1408600-1409200	Bivalent Enhancer	Fetal Brain Male	brain
39	chr4:1408800-1409000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr4:1408800-1409000	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr4:1408800-1409000	Active TSS	H9 Cell Line	embryonic stem cell
42	chr4:1408800-1409000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
43	chr4:1408800-1409000	Transcr. at gene 5' and 3'	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr4:1408800-1409000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:1408800-1409000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
46	chr4:1408800-1409000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
47	chr4:1408800-1409000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr4:1408800-1409000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr4:1408800-1409000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr4:1408800-1409000	Bivalent Enhancer	Right Ventricle	heart

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