Variant report

Variant	esv3376036
Chromosome Location	chr4:147439502-147441500
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:147437110..147440734-chr4:147441059..147444351,6	K562	blood:
2	chr4:147419888..147422305-chr4:147440124..147442502,3	K562	blood:
3	chr4:147433100..147434679-chr4:147439045..147441227,2	K562	blood:
4	chr4:147414219..147415892-chr4:147439502..147441061,2	K562	blood:
5	chr4:147438639..147441130-chr4:147443226..147445590,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120519	chromatin interactions

Extended variants
information (count: 70 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553109800	chr4:147439513-147439514	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs572937508	chr4:147439524-147439525	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs149428150	chr4:147439532-147439533	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs555658188	chr4:147439547-147439548	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs575459964	chr4:147439575-147439576	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs181969243	chr4:147439600-147439601	Weak transcription Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs147548212	chr4:147439612-147439613	Weak transcription Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs113719606	chr4:147439628-147439629	Weak transcription Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs3914630	chr4:147439629-147439630	Weak transcription Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs143946842	chr4:147439630-147439631	Weak transcription Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs540193765	chr4:147439669-147439670	Weak transcription Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs560252425	chr4:147439688-147439689	Weak transcription Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs147302616	chr4:147439704-147439705	Weak transcription Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs4496597	chr4:147439736-147439737	Weak transcription Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs561717802	chr4:147439771-147439772	Weak transcription Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs555212038	chr4:147439804-147439805	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs550625124	chr4:147439834-147439835	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs188197242	chr4:147439842-147439843	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs148735723	chr4:147439920-147439921	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs572086682	chr4:147439935-147439936	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs546611459	chr4:147439940-147439941	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs181080936	chr4:147439941-147439942	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs535182627	chr4:147439987-147439988	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs555403793	chr4:147439995-147439996	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs142364768	chr4:147440074-147440075	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs540591986	chr4:147440124-147440125	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs368403477	chr4:147440132-147440133	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs113238914	chr4:147440165-147440166	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs538388958	chr4:147440174-147440175	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs74808595	chr4:147440180-147440181	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs146627030	chr4:147440183-147440184	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs540276148	chr4:147440186-147440187	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs560094711	chr4:147440188-147440189	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs539823637	chr4:147440250-147440251	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs377613280	chr4:147440252-147440253	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs112619535	chr4:147440259-147440260	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs58635593	chr4:147440264-147440265	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs539124919	chr4:147440307-147440308	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs111477053	chr4:147440417-147440418	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs79478830	chr4:147440468-147440469	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs186321781	chr4:147440504-147440505	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs542616668	chr4:147440518-147440519	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs542771338	chr4:147440667-147440668	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs200879490	chr4:147440718-147440719	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs191459585	chr4:147440737-147440738	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs375441744	chr4:147440762-147440763	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs550712911	chr4:147440852-147440853	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs577451081	chr4:147440930-147440931	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs544239532	chr4:147440969-147440970	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs564415804	chr4:147440974-147440975	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21633010	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147403800-147440600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr4:147404200-147441800	Weak transcription	Right Ventricle	heart
3	chr4:147405400-147440600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:147405600-147440800	Weak transcription	Fetal Intestine Large	intestine
5	chr4:147407000-147441800	Weak transcription	Aorta	Aorta
6	chr4:147407200-147441800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr4:147408200-147441400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr4:147408200-147442200	Weak transcription	Spleen	Spleen
9	chr4:147408600-147440800	Weak transcription	Fetal Brain Female	brain
10	chr4:147409400-147441200	Weak transcription	Fetal Stomach	stomach
11	chr4:147410400-147441000	Weak transcription	Brain Germinal Matrix	brain
12	chr4:147410400-147441200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:147410800-147439600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr4:147412400-147441000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr4:147412600-147441200	Weak transcription	Brain Substantia Nigra	brain
16	chr4:147416000-147441400	Weak transcription	Small Intestine	intestine
17	chr4:147416000-147442000	Weak transcription	Gastric	stomach
18	chr4:147416600-147440600	Weak transcription	NH-A	brain
19	chr4:147416800-147439800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:147417000-147440600	Weak transcription	Fetal Heart	heart
21	chr4:147417000-147440800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:147417400-147440600	Weak transcription	HMEC	breast
23	chr4:147417600-147439800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr4:147417600-147440600	Weak transcription	NHLF	lung
25	chr4:147417600-147441000	Weak transcription	NHDF-Ad	bronchial
26	chr4:147417600-147441400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:147417600-147442200	Weak transcription	Esophagus	oesophagus
28	chr4:147417800-147440600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr4:147417800-147440800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr4:147417800-147442000	Weak transcription	Pancreas	Pancrea
31	chr4:147420600-147441400	Weak transcription	Fetal Brain Male	brain
32	chr4:147421200-147440800	Weak transcription	Colon Smooth Muscle	Colon
33	chr4:147421400-147440600	Weak transcription	HepG2	liver
34	chr4:147423000-147440800	Weak transcription	Ovary	ovary
35	chr4:147423200-147442000	Weak transcription	Placenta	Placenta
36	chr4:147423200-147442000	Weak transcription	Fetal Thymus	thymus
37	chr4:147423400-147441200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr4:147424400-147441200	Weak transcription	Fetal Kidney	kidney
39	chr4:147424400-147441800	Weak transcription	HSMM	muscle
40	chr4:147425000-147439600	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr4:147425000-147440600	Weak transcription	Thymus	Thymus
42	chr4:147425000-147440600	Weak transcription	NHEK	skin
43	chr4:147425000-147440800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr4:147425200-147440800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr4:147425200-147441200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:147430000-147441400	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr4:147430200-147441200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr4:147430400-147439800	Weak transcription	Psoas Muscle	Psoas
49	chr4:147430600-147442200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr4:147431000-147439800	Weak transcription	Dnd41	blood

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