Variant report

Variant	esv3345107
Chromosome Location	chr5:75768096-75771894
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	chr5:75768624..75770806-chr5:75772942..75775472,2	K562	blood:
2	chr11:118788520..118790631-chr5:75771506..75773655,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000186174	chromatin interactions

Extended variants
information (count: 131 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549153429	chr5:75768099-75768100	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs368145671	chr5:75768100-75768101	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs566154008	chr5:75768127-75768128	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs534837719	chr5:75768142-75768143	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs138428399	chr5:75768185-75768186	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs570333781	chr5:75768198-75768199	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs539313379	chr5:75768200-75768201	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs193201243	chr5:75768225-75768226	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs569662940	chr5:75768228-75768229	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs116373871	chr5:75768254-75768255	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs371560627	chr5:75768258-75768259	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs13184703	chr5:75768309-75768310	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs185476038	chr5:75768324-75768325	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs540793009	chr5:75768361-75768362	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs10474477	chr5:75768372-75768373	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs578225168	chr5:75768400-75768401	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs75119861	chr5:75768406-75768407	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs144316452	chr5:75768434-75768435	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs529598272	chr5:75768443-75768444	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs73116091	chr5:75768451-75768452	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs559513296	chr5:75768510-75768511	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs190776028	chr5:75768519-75768520	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs546160144	chr5:75768544-75768545	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs79358444	chr5:75768575-75768576	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs532961441	chr5:75768585-75768586	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs76801527	chr5:75768646-75768647	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs370801148	chr5:75768673-75768674	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs569600761	chr5:75768680-75768681	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs117754291	chr5:75768718-75768719	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs369627613	chr5:75768721-75768722	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs13168171	chr5:75768739-75768740	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs538500926	chr5:75768759-75768760	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs559731813	chr5:75768779-75768780	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs181984216	chr5:75768790-75768791	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs575682460	chr5:75768898-75768899	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs534676371	chr5:75768905-75768906	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs183602128	chr5:75768950-75768951	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs540986247	chr5:75768976-75768977	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs577861674	chr5:75769002-75769003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544313775	chr5:75769008-75769009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144871505	chr5:75769025-75769026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557620053	chr5:75769042-75769043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73116094	chr5:75769053-75769054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114035728	chr5:75769056-75769057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374830026	chr5:75769064-75769065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147533241	chr5:75769070-75769071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574399321	chr5:75769090-75769091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs377586914	chr5:75769124-75769125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs386689212	chr5:75769125-75769126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs151251436	chr5:75769127-75769128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17133270	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Schizophrenia	23813976	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:166 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75747200-75771600	Weak transcription	Fetal Stomach	stomach
2	chr5:75754200-75772000	Weak transcription	Fetal Kidney	kidney
3	chr5:75758000-75769400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:75758200-75775000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:75758400-75769200	Weak transcription	Primary B cells from cord blood	blood
6	chr5:75759200-75771400	Weak transcription	Fetal Intestine Small	intestine
7	chr5:75762800-75772600	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr5:75764400-75768600	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr5:75764400-75772800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr5:75765400-75772600	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr5:75765600-75769000	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr5:75765600-75773600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr5:75765800-75769400	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr5:75765800-75772000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr5:75765800-75773000	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr5:75766000-75769200	Weak transcription	GM12878-XiMat	blood
17	chr5:75766000-75771200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr5:75766000-75772200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr5:75766200-75771200	Enhancers	Stomach Mucosa	stomach
20	chr5:75766200-75772200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr5:75766800-75770200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:75766800-75771000	Enhancers	Primary T cells from cord blood	blood
23	chr5:75767000-75768600	Enhancers	Duodenum Mucosa	Duodenum
24	chr5:75767200-75768400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr5:75767200-75768400	Enhancers	Small Intestine	intestine
26	chr5:75767200-75769800	Enhancers	A549	lung
27	chr5:75767200-75770000	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr5:75767400-75769600	Weak transcription	K562	blood
29	chr5:75767400-75771000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:75767600-75768400	Enhancers	Fetal Brain Female	brain
31	chr5:75767600-75768800	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr5:75767600-75769000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr5:75767600-75771200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr5:75767600-75773200	Enhancers	Primary T cells fromperipheralblood	blood
35	chr5:75767800-75768200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:75767800-75768200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr5:75767800-75768200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:75767800-75768200	Enhancers	Gastric	stomach
39	chr5:75767800-75768200	Enhancers	Ovary	ovary
40	chr5:75767800-75768200	Enhancers	Spleen	Spleen
41	chr5:75767800-75768400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr5:75767800-75768400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr5:75767800-75768400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr5:75767800-75768400	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr5:75767800-75768400	Enhancers	Colonic Mucosa	Colon
46	chr5:75767800-75768400	Enhancers	Esophagus	oesophagus
47	chr5:75767800-75768400	Enhancers	Placenta	Placenta
48	chr5:75767800-75768400	Enhancers	Lung	lung
49	chr5:75767800-75768800	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr5:75767800-75768800	Enhancers	Sigmoid Colon	Sigmoid Colon

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