Variant report

Variant	esv2763404
Chromosome Location	chr4:166265940-166275340
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:166262631..166267437-chr4:166267990..166271315,4	K562	blood:
2	chr4:166247031..166249903-chr4:166268462..166270625,2	K562	blood:
3	chr4:166260940..166262583-chr4:166265474..166268224,2	K562	blood:
4	chr4:166249129..166252121-chr4:166265324..166266921,2	K562	blood:
5	chr4:166262631..166267437-chr4:166267990..166271315,4	K562	blood:
6	chr4:166052208..166052989-chr4:166267211..166267831,3	MCF-7	breast:
7	chr4:166248172..166250457-chr4:166265165..166267668,2	MCF-7	breast:
8	chr4:166052342..166053351-chr4:166266832..166267864,6	MCF-7	breast:
9	chr4:166265012..166266616-chr4:166301468..166303091,2	K562	blood:
10	chr4:166051363..166053095-chr4:166265302..166266870,2	MCF-7	breast:
11	chr4:166052311..166053023-chr4:166265996..166266912,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000052802	chromatin interactions

Extended variants
information (count: 374 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:374 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113010455	chr4:166265963-166265964	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs199912353	chr4:166265968-166265969	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs146937931	chr4:166266008-166266009	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs569030004	chr4:166266014-166266015	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs202023061	chr4:166266029-166266030	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs13137171	chr4:166266085-166266086	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs6817186	chr4:166266148-166266149	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs13112664	chr4:166266167-166266168	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs13112676	chr4:166266179-166266180	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs555926687	chr4:166266185-166266186	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs574070916	chr4:166266186-166266187	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs563035308	chr4:166266205-166266206	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs190962333	chr4:166266235-166266236	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs529102039	chr4:166266251-166266252	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs578151225	chr4:166266297-166266298	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs545722432	chr4:166266312-166266313	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs548722590	chr4:166266322-166266323	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs560516755	chr4:166266327-166266328	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs527913813	chr4:166266331-166266332	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs565649474	chr4:166266351-166266352	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs6536906	chr4:166266361-166266362	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs6822290	chr4:166266370-166266371	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs140382945	chr4:166266410-166266411	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs550114774	chr4:166266417-166266418	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs568844868	chr4:166266418-166266419	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs536043918	chr4:166266419-166266420	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs533068578	chr4:166266464-166266465	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs187504264	chr4:166266465-166266466	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs146580182	chr4:166266473-166266474	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs7690328	chr4:166266500-166266501	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs555618550	chr4:166266504-166266505	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs6536907	chr4:166266517-166266518	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs190448892	chr4:166266527-166266528	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs556272582	chr4:166266537-166266538	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs578004655	chr4:166266570-166266571	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs183304722	chr4:166266638-166266639	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs545354487	chr4:166266647-166266648	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs369902041	chr4:166266661-166266662	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs529904493	chr4:166266725-166266726	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs4691183	chr4:166266727-166266728	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs372170133	chr4:166266769-166266770	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs542784520	chr4:166266835-166266836	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs60000059	chr4:166266887-166266888	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs576178944	chr4:166266954-166266955	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs138007766	chr4:166266955-166266956	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs544336497	chr4:166267049-166267050	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs562342669	chr4:166267078-166267079	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs563413295	chr4:166267118-166267119	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs7667236	chr4:166267119-166267120	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs187843075	chr4:166267123-166267124	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	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
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	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
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Glioblastoma multiforme	22286061	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	16774939	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
intellectual deficit	22127048	CNVD
abnormal development	18461090	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166249600-166266600	Weak transcription	Left Ventricle	heart
2	chr4:166250600-166266800	Weak transcription	A549	lung
3	chr4:166252200-166269200	Weak transcription	Stomach Mucosa	stomach
4	chr4:166252200-166269400	Weak transcription	Gastric	stomach
5	chr4:166253400-166272600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:166253800-166266600	Weak transcription	Small Intestine	intestine
7	chr4:166254000-166269400	Weak transcription	Fetal Heart	heart
8	chr4:166255800-166266800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:166259000-166267800	Weak transcription	Fetal Brain Male	brain
10	chr4:166259800-166266800	Weak transcription	Brain Angular Gyrus	brain
11	chr4:166260600-166266600	Weak transcription	Fetal Stomach	stomach
12	chr4:166260600-166268400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:166261200-166266200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr4:166261400-166267000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr4:166261400-166267000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr4:166261400-166267000	Weak transcription	Ovary	ovary
17	chr4:166261400-166272600	Weak transcription	HSMMtube	muscle
18	chr4:166261600-166266600	Weak transcription	Brain Hippocampus Middle	brain
19	chr4:166261600-166266800	Weak transcription	Primary T cells from cord blood	blood
20	chr4:166261600-166266800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr4:166261600-166267000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr4:166261600-166267400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr4:166261600-166272800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr4:166261800-166267600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr4:166261800-166267800	Weak transcription	Brain Germinal Matrix	brain
26	chr4:166262000-166266000	Weak transcription	Brain Substantia Nigra	brain
27	chr4:166262000-166266800	Weak transcription	Fetal Kidney	kidney
28	chr4:166262000-166267200	Weak transcription	NHEK	skin
29	chr4:166262000-166267400	Weak transcription	HepG2	liver
30	chr4:166262000-166268000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr4:166262000-166268200	Weak transcription	Fetal Lung	lung
32	chr4:166262200-166267200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr4:166262400-166266800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr4:166262800-166266800	Weak transcription	Brain Anterior Caudate	brain
35	chr4:166263000-166266800	Weak transcription	Fetal Brain Female	brain
36	chr4:166263200-166266200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr4:166263200-166266600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr4:166263200-166266800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr4:166263200-166266800	Weak transcription	Fetal Intestine Large	intestine
40	chr4:166263200-166267000	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr4:166263200-166269200	Weak transcription	K562	blood
42	chr4:166263200-166280400	Weak transcription	Adipose Nuclei	Adipose
43	chr4:166263400-166272800	Weak transcription	NH-A	brain
44	chr4:166264000-166266000	Weak transcription	Osteobl	bone
45	chr4:166264000-166266600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr4:166264000-166267000	Weak transcription	NHLF	lung
47	chr4:166264000-166269000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr4:166264000-166271600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr4:166264000-166274600	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr4:166264200-166274800	Weak transcription	Monocytes-CD14+_RO01746	blood

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