Variant report

Variant	esv3439620
Chromosome Location	chr4:6941794-6941990
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	chr4:6935997..6938458-chr4:6940561..6943507,2	K562	blood:
2	chr4:6926884..6928623-chr4:6939746..6942582,2	MCF-7	breast:
3	chr4:6927079..6929497-chr4:6940863..6942665,2	K562	blood:
4	chr4:6940421..6944056-chr4:6949146..6952385,3	K562	blood:
5	chr4:6678052..6680236-chr4:6940954..6942752,2	K562	blood:
6	chr4:6927079..6929042-chr4:6940771..6942363,2	K562	blood:
7	chr4:6941935..6944212-chr4:6988372..6991479,3	K562	blood:
8	chr4:6941810..6943426-chr4:6944150..6946769,2	K562	blood:
9	chr4:6908111..6910785-chr4:6941101..6945265,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000132405	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575873260	chr4:6941797-6941798	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11731681	chr4:6941798-6941799	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs11723686	chr4:6941802-6941803	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs576815620	chr4:6941835-6941836	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540725762	chr4:6941842-6941843	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11723716	chr4:6941858-6941859	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149120058	chr4:6941860-6941861	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541639347	chr4:6941870-6941871	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11723719	chr4:6941891-6941892	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs530717131	chr4:6941892-6941893	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142156379	chr4:6941895-6941896	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149350626	chr4:6941954-6941955	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs151199030	chr4:6941967-6941968	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs564312670	chr4:6941968-6941969	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs74886563	chr4:6941974-6941975	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

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

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6919600-6942200	Weak transcription	Hela-S3	cervix
2	chr4:6926200-6942000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr4:6926200-6942600	Weak transcription	NHEK	skin
4	chr4:6926200-6943200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:6928000-6942000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr4:6928000-6969600	Weak transcription	Aorta	Aorta
7	chr4:6929000-6942000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:6929000-6942200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:6929200-6942000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr4:6929400-6942400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:6929600-6942400	Weak transcription	Small Intestine	intestine
12	chr4:6929800-6943200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr4:6931400-6943200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:6931600-6942000	Weak transcription	Colon Smooth Muscle	Colon
15	chr4:6932000-6942000	Weak transcription	Stomach Mucosa	stomach
16	chr4:6932000-6943400	Weak transcription	Fetal Brain Female	brain
17	chr4:6932000-6943400	Weak transcription	Fetal Kidney	kidney
18	chr4:6932200-6943200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr4:6933400-6942200	Weak transcription	Psoas Muscle	Psoas
20	chr4:6934400-6946400	Enhancers	Placenta	Placenta
21	chr4:6935400-6943200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr4:6936000-6943200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:6937400-6941800	Weak transcription	A549	lung
24	chr4:6937400-6942400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr4:6939000-6945600	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr4:6939000-6946800	Enhancers	Adipose Nuclei	Adipose
27	chr4:6939200-6942000	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr4:6939200-6942400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr4:6939200-6942400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr4:6939200-6942400	Enhancers	Right Ventricle	heart
31	chr4:6939200-6942600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr4:6939200-6943200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr4:6939200-6943200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr4:6939200-6943400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr4:6939200-6943400	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr4:6939200-6943800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr4:6939200-6946200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr4:6939200-6947000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:6939200-6947200	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr4:6939200-6948000	Enhancers	H1 Cell Line	embryonic stem cell
41	chr4:6939400-6941800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr4:6939400-6941800	Enhancers	Pancreas	Pancrea
43	chr4:6939400-6943400	Enhancers	Primary B cells from cord blood	blood
44	chr4:6939400-6943600	Enhancers	Primary hematopoietic stem cells	blood
45	chr4:6939400-6943800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr4:6939400-6944200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr4:6939400-6945600	Enhancers	Primary B cells from peripheral blood	blood
48	chr4:6939600-6947000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr4:6939800-6945000	Enhancers	Brain Cingulate Gyrus	brain
50	chr4:6940000-6941800	Genic enhancers	Thymus	Thymus

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