Variant report

Variant	esv3494734
Chromosome Location	chr4:1046955-1049779
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:1049115..1051492-chr4:1235735..1239693,3	MCF-7	breast:
2	chr4:1042064..1045606-chr4:1047862..1051205,4	K562	blood:
3	chr4:1005224..1006749-chr4:1044762..1047527,2	K562	blood:
4	chr4:1046102..1048749-chr4:1049067..1050606,2	MCF-7	breast:
5	chr4:1037510..1041513-chr4:1045013..1047311,3	K562	blood:
6	chr4:1045118..1048090-chr4:1052343..1053975,2	K562	blood:
7	chr4:1048335..1050594-chr4:1053315..1054904,2	K562	blood:
8	chr4:978985..981201-chr4:1048637..1050224,2	MCF-7	breast:
9	chr4:1046102..1048749-chr4:1049067..1050606,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000127418	chromatin interactions
ENSG00000127415	chromatin interactions
ENSG00000145214	chromatin interactions

Extended variants
information (count: 173 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:173 , 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	rs373686377	chr4:1046964-1046965	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs529579721	chr4:1046983-1046984	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs35621577	chr4:1046992-1046993	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs559995808	chr4:1046993-1046994	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs533415725	chr4:1047004-1047005	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs191067860	chr4:1047012-1047013	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs377133015	chr4:1047016-1047017	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs530918333	chr4:1047027-1047028	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs549136900	chr4:1047061-1047062	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs369818542	chr4:1047063-1047064	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs567517987	chr4:1047077-1047078	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs534615087	chr4:1047098-1047099	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs146407424	chr4:1047170-1047171	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs571109308	chr4:1047220-1047221	Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs34956924	chr4:1047270-1047271	Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs557006282	chr4:1047275-1047276	Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs575274211	chr4:1047309-1047310	Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs555967759	chr4:1047314-1047315	Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs56298205	chr4:1047334-1047335	Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs577692830	chr4:1047335-1047336	Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs55908526	chr4:1047343-1047344	Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs79036983	chr4:1047354-1047355	Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs554281459	chr4:1047355-1047356	Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs182580192	chr4:1047393-1047394	Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs55841237	chr4:1047404-1047405	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs541747669	chr4:1047423-1047424	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs201235102	chr4:1047424-1047425	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs578209922	chr4:1047426-1047427	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs545306903	chr4:1047450-1047451	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs113747043	chr4:1047510-1047511	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs113267466	chr4:1047512-1047513	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs563779851	chr4:1047527-1047528	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs372597147	chr4:1047532-1047533	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs113259670	chr4:1047547-1047548	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs111365723	chr4:1047552-1047553	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs376488740	chr4:1047559-1047560	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs200137123	chr4:1047562-1047563	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs113616865	chr4:1047572-1047573	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs530924909	chr4:1047582-1047583	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs62294691	chr4:1047612-1047613	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs549319216	chr4:1047613-1047614	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs62294692	chr4:1047624-1047625	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs62294693	chr4:1047632-1047633	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs561130558	chr4:1047633-1047634	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs374880867	chr4:1047644-1047645	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs112352024	chr4:1047652-1047653	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs202063319	chr4:1047683-1047684	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs571244596	chr4:1047686-1047687	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs572689920	chr4:1047692-1047693	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs550526761	chr4:1047706-1047707	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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	21509527	CNVD
Non-syndromic sensorineural hearing loss	22297974	CNVD
Breast cancer	20932292	CNVD
Cancer	20164919	CNVD

Chromatin state (count:222 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1040800-1048600	Weak transcription	Right Atrium	heart
2	chr4:1041200-1049200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:1042200-1052200	Weak transcription	Gastric	stomach
4	chr4:1044800-1047800	Bivalent Enhancer	Fetal Muscle Leg	muscle
5	chr4:1045800-1047200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr4:1045800-1047600	Bivalent Enhancer	NHDF-Ad	bronchial
7	chr4:1046000-1047000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:1046000-1047200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:1046000-1047600	Bivalent Enhancer	HMEC	breast
10	chr4:1046200-1047200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:1046400-1047000	Bivalent Enhancer	NHEK	skin
12	chr4:1046400-1047200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:1046400-1047200	Enhancers	Spleen	Spleen
14	chr4:1046400-1047600	Bivalent Enhancer	Placenta	Placenta
15	chr4:1046600-1047000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:1046600-1047000	Bivalent Enhancer	HSMM	muscle
17	chr4:1046600-1047000	Flanking Bivalent TSS/Enh	Osteobl	bone
18	chr4:1046600-1047200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:1046600-1047200	Bivalent Enhancer	Fetal Lung	lung
20	chr4:1046600-1047600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:1046600-1047600	Bivalent Enhancer	Fetal Brain Male	brain
22	chr4:1046600-1047800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:1046600-1049200	Weak transcription	Lung	lung
24	chr4:1046800-1047000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:1046800-1047000	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
26	chr4:1046800-1047000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:1046800-1047000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:1046800-1047000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
29	chr4:1046800-1047000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
30	chr4:1046800-1047000	Bivalent Enhancer	A549	lung
31	chr4:1046800-1047000	Bivalent Enhancer	HSMMtube	muscle
32	chr4:1046800-1047200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:1046800-1047200	Bivalent Enhancer	Esophagus	oesophagus
34	chr4:1046800-1047400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
35	chr4:1046800-1047400	Bivalent Enhancer	Adipose Nuclei	Adipose
36	chr4:1046800-1047600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
37	chr4:1046800-1047800	Bivalent Enhancer	Fetal Stomach	stomach
38	chr4:1047000-1047200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:1047000-1047200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr4:1047000-1047200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
41	chr4:1047000-1047200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr4:1047000-1047200	Bivalent Enhancer	Brain Substantia Nigra	brain
43	chr4:1047000-1047200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
44	chr4:1047000-1047200	Bivalent Enhancer	Fetal Thymus	thymus
45	chr4:1047000-1047200	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
46	chr4:1047000-1047200	Bivalent Enhancer	Rectal Smooth Muscle	rectum
47	chr4:1047000-1047200	Bivalent Enhancer	Stomach Mucosa	stomach
48	chr4:1047000-1047200	Bivalent Enhancer	Hela-S3	cervix
49	chr4:1047000-1047200	Flanking Bivalent TSS/Enh	HSMM	muscle
50	chr4:1047000-1047200	Bivalent/Poised TSS	Osteobl	bone

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