Variant report

Variant	esv13277
Chromosome Location	chr4:3059756-3069436
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:14)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:3066825..3068832-chr4:3075011..3077801,2	K562	blood:
2	chr4:3066058..3068387-chr4:3069883..3072279,2	MCF-7	breast:
3	chr4:3068906..3071079-chr4:3073190..3075687,2	MCF-7	breast:
4	chr4:3062719..3066918-chr4:3067061..3070088,5	MCF-7	breast:
5	chr4:3063869..3067673-chr4:3071743..3074238,3	K562	blood:
6	chr4:2961872..2963731-chr4:3064483..3066913,2	K562	blood:
7	chr4:3062677..3066203-chr4:3074902..3078102,3	MCF-7	breast:
8	chr4:3057371..3060027-chr4:3074325..3077279,3	MCF-7	breast:
9	chr4:3069315..3071620-chr4:3074208..3077820,3	K562	blood:
10	chr4:3061846..3066682-chr4:3074645..3077893,4	K562	blood:
11	chr4:3065221..3068395-chr4:3071743..3074538,3	K562	blood:
12	chr4:3067005..3070247-chr4:3074398..3077648,3	MCF-7	breast:
13	chr4:3062728..3065376-chr4:3070329..3072702,2	MCF-7	breast:
14	chr4:3062719..3066918-chr4:3067061..3070088,5	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NOP14-2	chr4:3065198-3065427	XLOC_003858
2	lnc-NOP14-5	chr4:3061974-3062266	NONHSAT094844
3	lnc-HTT-1	chr4:3060661-3061446	NONHSAT094843
4	lnc-NOP14-2	chr4:3064973-3065427	NONHSAT094847
5	lnc-NOP14-7	chr4:3066288-3066560	NONHSAT094848
6	lnc-NOP14-6	chr4:3062430-3062871	NONHSAT094845

No data

Variant related genes	Relation type
ENSG00000251075	chromatin interactions
ENSG00000197386	chromatin interactions

Extended variants
information (count: 411 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:411 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545267300	chr4:3059791-3059792	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs565140226	chr4:3059814-3059815	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs530965377	chr4:3059824-3059825	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs192562106	chr4:3059829-3059830	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs566872424	chr4:3059854-3059855	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs9685818	chr4:3059874-3059875	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs563234944	chr4:3059880-3059881	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs9685819	chr4:3059883-3059884	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs9685822	chr4:3059899-3059900	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs528911941	chr4:3059913-3059914	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs367558048	chr4:3059914-3059915	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs527618130	chr4:3059921-3059922	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs565648657	chr4:3059922-3059923	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs552526493	chr4:3059924-3059925	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs551657224	chr4:3059933-3059934	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs184488748	chr4:3059945-3059946	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs536848883	chr4:3059946-3059947	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs201634164	chr4:3059978-3059979	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs186788913	chr4:3059996-3059997	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs192664513	chr4:3060002-3060003	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs527717867	chr4:3060010-3060011	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs2471334	chr4:3060049-3060050	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs75635826	chr4:3060059-3060060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201222828	chr4:3060070-3060071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572854809	chr4:3060072-3060073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545304043	chr4:3060080-3060081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570873341	chr4:3060092-3060093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575843235	chr4:3060122-3060123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375387552	chr4:3060130-3060131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139743565	chr4:3060131-3060132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563432985	chr4:3060158-3060159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528994939	chr4:3060184-3060185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542718967	chr4:3060193-3060194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113881738	chr4:3060203-3060204	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs184862294	chr4:3060226-3060227	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs1313775	chr4:3060263-3060264	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs551745006	chr4:3060280-3060281	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs571427623	chr4:3060310-3060311	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs530764969	chr4:3060317-3060318	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs189189072	chr4:3060346-3060347	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs149798844	chr4:3060352-3060353	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs536350456	chr4:3060353-3060354	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs367768554	chr4:3060375-3060376	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs2515955	chr4:3060390-3060391	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs566566939	chr4:3060392-3060393	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs538645965	chr4:3060413-3060414	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181679359	chr4:3060422-3060423	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs57201001	chr4:3060447-3060448	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs397809379	chr4:3060459-3060460	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575832665	chr4:3060474-3060475	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
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	21785460	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3048200-3075200	Weak transcription	Right Atrium	heart
2	chr4:3049600-3074800	Weak transcription	Lung	lung
3	chr4:3053800-3064600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:3058200-3060000	Weak transcription	Primary B cells from cord blood	blood
5	chr4:3058200-3060400	Weak transcription	Adipose Nuclei	Adipose
6	chr4:3058200-3075200	Weak transcription	Psoas Muscle	Psoas
7	chr4:3058400-3060200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:3058400-3060600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr4:3058800-3060000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr4:3058800-3060000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:3059200-3060400	Enhancers	Placenta	Placenta
12	chr4:3059600-3060200	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr4:3059600-3065200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr4:3060000-3060200	Enhancers	GM12878-XiMat	blood
15	chr4:3060000-3060400	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr4:3060000-3060600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:3060000-3061400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr4:3060000-3061600	Enhancers	Primary B cells from cord blood	blood
19	chr4:3060000-3061600	Enhancers	Primary B cells from peripheral blood	blood
20	chr4:3060000-3061600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr4:3060200-3060600	Enhancers	Spleen	Spleen
22	chr4:3060200-3060800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr4:3060200-3060800	Enhancers	Fetal Thymus	thymus
24	chr4:3060200-3061200	Flanking Active TSS	GM12878-XiMat	blood
25	chr4:3060200-3061400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr4:3060200-3061600	Enhancers	Primary hematopoietic stem cells	blood
27	chr4:3060200-3062600	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr4:3060400-3061200	Enhancers	Fetal Muscle Leg	muscle
29	chr4:3060400-3061800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr4:3060400-3062200	Enhancers	Adipose Nuclei	Adipose
31	chr4:3060400-3063800	Weak transcription	Placenta	Placenta
32	chr4:3060600-3061000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr4:3060600-3061000	Flanking Active TSS	Spleen	Spleen
34	chr4:3060600-3061000	Enhancers	HSMMtube	muscle
35	chr4:3060600-3061200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:3060600-3062800	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr4:3060800-3061000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
38	chr4:3060800-3061000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr4:3060800-3074800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr4:3061000-3064000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr4:3061000-3074800	Weak transcription	Spleen	Spleen
42	chr4:3061200-3061600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr4:3061200-3061600	Enhancers	GM12878-XiMat	blood
44	chr4:3061400-3062000	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr4:3061600-3062600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:3061600-3064000	Weak transcription	Primary B cells from peripheral blood	blood
47	chr4:3061600-3068400	Weak transcription	Primary B cells from cord blood	blood
48	chr4:3061600-3075000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr4:3061800-3063600	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr4:3062000-3063000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links