Variant report

Variant	esv20550
Chromosome Location	chr4:7950857-7951577
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7948820..7951616-chr4:7956556..7958489,2	MCF-7	breast:
2	chr4:7940858..7944255-chr4:7948731..7952415,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196526	chromatin interactions

Extended variants
information (count: 37 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5012709	chr4:7950862-7950863	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs4385040	chr4:7950895-7950896	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs530528348	chr4:7950901-7950902	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs575734676	chr4:7950918-7950919	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs4345163	chr4:7950919-7950920	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs564436771	chr4:7950920-7950921	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs573465448	chr4:7950923-7950924	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs76058854	chr4:7950944-7950945	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs4235268	chr4:7950965-7950966	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs529479331	chr4:7950977-7950978	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs4235269	chr4:7950984-7950985	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs563023074	chr4:7951002-7951003	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs186597155	chr4:7951003-7951004	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs191054450	chr4:7951011-7951012	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs570387191	chr4:7951034-7951035	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs528381243	chr4:7951043-7951044	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs546872995	chr4:7951089-7951090	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs568207300	chr4:7951092-7951093	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs4696833	chr4:7951137-7951138	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs73798044	chr4:7951145-7951146	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs113298306	chr4:7951172-7951173	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs4696834	chr4:7951211-7951212	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs558182882	chr4:7951241-7951242	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs371682020	chr4:7951286-7951287	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs557199748	chr4:7951290-7951291	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs375083647	chr4:7951330-7951331	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs4696835	chr4:7951341-7951342	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs556009167	chr4:7951356-7951357	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs147879360	chr4:7951367-7951368	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs574181561	chr4:7951390-7951391	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs544426386	chr4:7951404-7951405	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs562709050	chr4:7951428-7951429	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs530530235	chr4:7951442-7951443	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs7696745	chr4:7951445-7951446	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs563974877	chr4:7951527-7951528	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs7685634	chr4:7951542-7951543	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs546614109	chr4:7951546-7951547	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7941600-7951200	Weak transcription	Small Intestine	intestine
2	chr4:7942000-7951000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:7942000-7951400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:7945400-7957400	Weak transcription	Placenta	Placenta
5	chr4:7948400-7951000	Weak transcription	Fetal Brain Female	brain
6	chr4:7948600-7951000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:7949000-7952400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:7949800-7951600	Enhancers	Fetal Brain Male	brain
9	chr4:7950000-7951200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:7950400-7951200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:7950400-7951400	Enhancers	Pancreas	Pancrea
12	chr4:7950400-7951600	Enhancers	Duodenum Mucosa	Duodenum
13	chr4:7950400-7951800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:7950400-7951800	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr4:7950400-7951800	Enhancers	Fetal Intestine Large	intestine
16	chr4:7950400-7951800	Enhancers	Fetal Intestine Small	intestine
17	chr4:7950600-7951200	Enhancers	Ovary	ovary
18	chr4:7950600-7951200	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr4:7950600-7951200	Enhancers	Osteobl	bone
20	chr4:7950600-7951600	Enhancers	Colon Smooth Muscle	Colon
21	chr4:7950600-7951600	Enhancers	Rectal Smooth Muscle	rectum
22	chr4:7950600-7952000	Enhancers	Stomach Mucosa	stomach
23	chr4:7950600-7952600	Bivalent Enhancer	HepG2	liver
24	chr4:7950800-7951000	Enhancers	Fetal Heart	heart
25	chr4:7950800-7951400	Enhancers	Liver	Liver
26	chr4:7951000-7951200	Flanking Active TSS	Fetal Heart	heart
27	chr4:7951000-7951200	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr4:7951000-7951400	Enhancers	Fetal Brain Female	brain
29	chr4:7951000-7951600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:7951200-7951400	Bivalent Enhancer	Fetal Muscle Leg	muscle
31	chr4:7951200-7951400	Enhancers	Small Intestine	intestine
32	chr4:7951200-7951800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr4:7951200-7951800	Enhancers	Stomach Smooth Muscle	stomach
34	chr4:7951200-7952000	Enhancers	Fetal Heart	heart
35	chr4:7951400-7951800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr4:7951400-7962200	Weak transcription	Small Intestine	intestine

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