Variant report

Variant	esv3449776
Chromosome Location	chr4:6974343-6974791
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	chr4:6918088..6920742-chr4:6973003..6977658,4	MCF-7	breast:
2	chr4:6968058..6971311-chr4:6972075..6975359,5	K562	blood:
3	chr4:6970136..6972569-chr4:6974039..6977282,3	MCF-7	breast:
4	chr4:6972334..6975230-chr4:6986850..6989508,3	MCF-7	breast:
5	chr4:6974510..6976295-chr4:6983564..6986014,2	K562	blood:
6	chr4:6965177..6967591-chr4:6972240..6974882,2	MCF-7	breast:
7	chr4:6973834..6976602-chr4:7024841..7026449,2	K562	blood:
8	chr4:6966970..6969558-chr4:6972075..6974539,2	K562	blood:
9	chr4:6970235..6972134-chr4:6974556..6976234,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000132405	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535074677	chr4:6974398-6974399	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs542491628	chr4:6974399-6974400	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs368286931	chr4:6974430-6974431	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs372221471	chr4:6974456-6974457	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs565447376	chr4:6974515-6974516	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs553604250	chr4:6974520-6974521	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs4234792	chr4:6974532-6974533	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs59666640	chr4:6974570-6974571	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs530469912	chr4:6974653-6974654	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs188524743	chr4:6974677-6974678	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs116262418	chr4:6974688-6974689	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs17798884	chr4:6974718-6974719	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs565040004	chr4:6974751-6974752	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs549487360	chr4:6974764-6974765	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
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
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6955800-6976000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr4:6956000-6976000	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:6957600-6976000	Weak transcription	Fetal Lung	lung
4	chr4:6957800-6976000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:6958400-6975800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr4:6964200-6976000	Weak transcription	Brain Germinal Matrix	brain
7	chr4:6965000-6976000	Weak transcription	A549	lung
8	chr4:6965200-6976000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr4:6965200-6976000	Weak transcription	Stomach Mucosa	stomach
10	chr4:6965200-6976200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:6965400-6974600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:6965400-6976000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:6965400-6976000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr4:6965400-6976000	Weak transcription	NHLF	lung
15	chr4:6965400-6976200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:6965400-6987800	Weak transcription	Small Intestine	intestine
17	chr4:6966200-6976000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr4:6967000-6976000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr4:6967600-6974400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr4:6967800-6975000	Weak transcription	HSMMtube	muscle
21	chr4:6967800-6976000	Weak transcription	Fetal Kidney	kidney
22	chr4:6968000-6987600	Weak transcription	HSMM	muscle
23	chr4:6968200-6976000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:6968800-6975000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr4:6968800-6975400	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr4:6969000-6974800	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr4:6969000-6974800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr4:6969000-6975400	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr4:6969000-6975400	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr4:6969400-6974800	Strong transcription	Thymus	Thymus
31	chr4:6969600-6976000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr4:6969800-6985200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr4:6969800-6986000	Weak transcription	Left Ventricle	heart
34	chr4:6970600-6976000	Weak transcription	Aorta	Aorta
35	chr4:6970600-6976800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr4:6970800-6974400	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr4:6970800-6976000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr4:6970800-6976000	Weak transcription	Adipose Nuclei	Adipose
39	chr4:6970800-6976000	Weak transcription	Pancreas	Pancrea
40	chr4:6970800-6976200	Weak transcription	Fetal Brain Female	brain
41	chr4:6970800-6985800	Weak transcription	Esophagus	oesophagus
42	chr4:6970800-6987800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:6971000-6976000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr4:6971200-6975200	Genic enhancers	Fetal Intestine Small	intestine
45	chr4:6971400-6974600	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr4:6971600-6986400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:6971800-6976000	Weak transcription	Lung	lung
48	chr4:6972000-6976000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr4:6972000-6986000	Weak transcription	Right Ventricle	heart
50	chr4:6972200-6976000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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