Variant report

Variant	esv3512306
Chromosome Location	chr4:7768189-7768388
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7762684..7766410-chr4:7766886..7769453,3	MCF-7	breast:
2	chr4:7762573..7764644-chr4:7765812..7768936,3	K562	blood:
3	chr4:7764728..7766346-chr4:7767900..7769988,2	K562	blood:
4	chr4:7760394..7761920-chr4:7766669..7769385,2	K562	blood:
5	chr4:7765704..7768382-chr4:7782855..7784797,2	K562	blood:
6	chr4:6934398..6936821-chr4:7767820..7770493,2	K562	blood:
7	chr4:7767721..7770258-chr4:7770613..7772876,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546500886	chr4:7768211-7768212	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184923371	chr4:7768213-7768214	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34271107	chr4:7768229-7768230	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs569371658	chr4:7768259-7768260	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539443992	chr4:7768288-7768289	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs60289420	chr4:7768289-7768290	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566881378	chr4:7768294-7768295	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs58848457	chr4:7768295-7768296	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs556116698	chr4:7768298-7768299	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570554569	chr4:7768299-7768300	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs56779936	chr4:7768314-7768315	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544825800	chr4:7768322-7768323	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138401794	chr4:7768324-7768325	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537996139	chr4:7768334-7768335	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556771977	chr4:7768357-7768358	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575345420	chr4:7768358-7768359	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189347199	chr4:7768359-7768360	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539920389	chr4:7768362-7768363	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs180924751	chr4:7768365-7768366	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539508218	chr4:7768369-7768370	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528093989	chr4:7768384-7768385	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7746200-7772000	Weak transcription	Brain Anterior Caudate	brain
2	chr4:7755400-7768400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:7757000-7772000	Strong transcription	Brain Germinal Matrix	brain
4	chr4:7757600-7770800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:7757600-7779600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:7757800-7768200	Weak transcription	Fetal Heart	heart
7	chr4:7757800-7768600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr4:7757800-7772000	Strong transcription	Fetal Intestine Small	intestine
9	chr4:7758000-7780800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr4:7758200-7783200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:7758400-7795400	Weak transcription	Hela-S3	cervix
12	chr4:7758600-7780600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:7759400-7790400	Weak transcription	Psoas Muscle	Psoas
14	chr4:7759800-7771600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:7759800-7773800	Weak transcription	Fetal Kidney	kidney
16	chr4:7760000-7770000	Strong transcription	Fetal Stomach	stomach
17	chr4:7760000-7783000	Strong transcription	HSMMtube	muscle
18	chr4:7760000-7783200	Strong transcription	HSMM	muscle
19	chr4:7760200-7768800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:7760200-7774200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr4:7760200-7779400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:7760400-7768400	Weak transcription	Left Ventricle	heart
23	chr4:7760400-7780400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:7760600-7780000	Weak transcription	Right Atrium	heart
25	chr4:7761000-7780400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:7761200-7769800	Weak transcription	Small Intestine	intestine
27	chr4:7761200-7770600	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr4:7761200-7772000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:7761200-7781000	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr4:7761400-7773400	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr4:7761400-7784400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:7761600-7769200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr4:7761800-7774400	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr4:7762000-7772000	Strong transcription	Fetal Intestine Large	intestine
35	chr4:7762000-7773800	Strong transcription	NHLF	lung
36	chr4:7762000-7788000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:7762000-7805800	Weak transcription	Stomach Mucosa	stomach
38	chr4:7762200-7770200	Strong transcription	Fetal Brain Female	brain
39	chr4:7762200-7771200	Strong transcription	NHEK	skin
40	chr4:7762200-7772800	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr4:7762400-7772200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr4:7762800-7768400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr4:7762800-7768800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr4:7763000-7775400	Weak transcription	Right Ventricle	heart
45	chr4:7763400-7768600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr4:7763400-7768800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:7763400-7770400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr4:7763600-7771000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr4:7763800-7768400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr4:7763800-7772200	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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