Variant report

Variant	esv3404628
Chromosome Location	chr4:7164751-7168949
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	chr4:7103518..7105389-chr4:7163668..7165983,2	K562	blood:
2	chr4:7156869..7158917-chr4:7168840..7170668,2	K562	blood:

Variant related genes	Relation type
ENSG00000245468	chromatin interactions

Extended variants
information (count: 236 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:236 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6816089	chr4:7164758-7164759	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs9291130	chr4:7164765-7164766	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs182485037	chr4:7164783-7164784	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs6446572	chr4:7164791-7164792	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs142680346	chr4:7164796-7164797	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs144434827	chr4:7164825-7164826	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs148410750	chr4:7164855-7164856	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs6846459	chr4:7164913-7164914	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs62291247	chr4:7164931-7164932	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs533822903	chr4:7164940-7164941	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs555272200	chr4:7164961-7164962	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs12511333	chr4:7164977-7164978	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs544241572	chr4:7164987-7164988	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs187748899	chr4:7164988-7164989	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs367991243	chr4:7164997-7164998	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs541486203	chr4:7165037-7165038	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs16839732	chr4:7165058-7165059	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs545190585	chr4:7165092-7165093	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs75660986	chr4:7165102-7165103	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs12507403	chr4:7165104-7165105	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs62291248	chr4:7165132-7165133	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs116002753	chr4:7165133-7165134	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs4689618	chr4:7165211-7165212	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs550505180	chr4:7165228-7165229	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs4689619	chr4:7165253-7165254	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs138025050	chr4:7165307-7165308	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs10017990	chr4:7165376-7165377	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs192732714	chr4:7165392-7165393	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs4689620	chr4:7165415-7165416	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs573913563	chr4:7165431-7165432	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs113487319	chr4:7165439-7165440	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs141784366	chr4:7165452-7165453	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs376112403	chr4:7165458-7165459	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs555235261	chr4:7165491-7165492	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs55850623	chr4:7165516-7165517	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs567185200	chr4:7165557-7165558	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs182388577	chr4:7165576-7165577	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs563704196	chr4:7165578-7165579	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs150598953	chr4:7165579-7165580	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs13144959	chr4:7165585-7165586	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs143375565	chr4:7165626-7165627	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs554002919	chr4:7165637-7165638	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs11932467	chr4:7165647-7165648	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs539795986	chr4:7165676-7165677	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs11932499	chr4:7165711-7165712	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs561475321	chr4:7165715-7165716	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs532015514	chr4:7165757-7165758	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs370826246	chr4:7165768-7165769	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs562489321	chr4:7165800-7165801	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs11946646	chr4:7165808-7165809	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7105800-7176000	Weak transcription	Right Atrium	heart
2	chr4:7160600-7164800	Enhancers	Pancreas	Pancrea
3	chr4:7161000-7172800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:7162200-7165000	Enhancers	Ovary	ovary
5	chr4:7162800-7172800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:7163000-7168000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr4:7163400-7167400	Weak transcription	Fetal Intestine Small	intestine
8	chr4:7163600-7168800	Weak transcription	Liver	Liver
9	chr4:7163800-7168800	Weak transcription	Fetal Stomach	stomach
10	chr4:7164000-7167400	Weak transcription	Fetal Intestine Large	intestine
11	chr4:7164000-7168600	Weak transcription	Fetal Muscle Leg	muscle
12	chr4:7164200-7166200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr4:7164400-7168200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr4:7164600-7164800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr4:7164800-7169200	Weak transcription	Pancreas	Pancrea
16	chr4:7165000-7165200	Bivalent Enhancer	HepG2	liver
17	chr4:7166200-7166400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:7166400-7166600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr4:7167000-7167800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr4:7167400-7170600	Enhancers	Fetal Intestine Large	intestine
21	chr4:7167400-7170600	Enhancers	Fetal Intestine Small	intestine
22	chr4:7167600-7167800	Enhancers	Right Ventricle	heart
23	chr4:7167800-7168800	Weak transcription	Right Ventricle	heart
24	chr4:7167800-7168800	Bivalent Enhancer	HepG2	liver
25	chr4:7167800-7182800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr4:7168000-7170000	Enhancers	Duodenum Mucosa	Duodenum
27	chr4:7168200-7169800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr4:7168600-7169400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:7168600-7169400	Enhancers	Esophagus	oesophagus
30	chr4:7168600-7169600	Enhancers	Fetal Muscle Trunk	muscle
31	chr4:7168600-7169600	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr4:7168600-7169600	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr4:7168600-7169800	Enhancers	Fetal Muscle Leg	muscle
34	chr4:7168800-7169000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
35	chr4:7168800-7169400	Enhancers	Fetal Stomach	stomach
36	chr4:7168800-7169400	Flanking Active TSS	HepG2	liver
37	chr4:7168800-7169600	Enhancers	Liver	Liver
38	chr4:7168800-7169600	Enhancers	Colonic Mucosa	Colon
39	chr4:7168800-7169800	Enhancers	Fetal Thymus	thymus

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