Variant report

Variant	esv3381036
Chromosome Location	chr6:36153974-36156172
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:36144920..36147918-chr6:36154455..36157144,2	K562	blood:
2	chr6:36155280..36157151-chr6:36161312..36162957,2	MCF-7	breast:
3	chr6:36138949..36143534-chr6:36154662..36159482,4	K562	blood:
4	chr6:36152501..36154693-chr6:36162205..36164087,2	MCF-7	breast:
5	chr6:36153558..36155723-chr6:36560628..36562566,2	K562	blood:
6	chr6:36149334..36155172-chr6:36162239..36167674,7	K562	blood:
7	chr6:36154270..36157142-chr6:36158753..36161369,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000096070	chromatin interactions
ENSG00000246982	chromatin interactions
ENSG00000112081	chromatin interactions

Extended variants
information (count: 69 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559475710	chr6:36154038-36154039	Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs184891192	chr6:36154072-36154073	Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs536092926	chr6:36154095-36154096	Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs547846608	chr6:36154162-36154163	Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs189785391	chr6:36154175-36154176	Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs536602109	chr6:36154190-36154191	Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs141475537	chr6:36154216-36154217	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs181152683	chr6:36154228-36154229	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs368008422	chr6:36154233-36154234	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs371970549	chr6:36154241-36154242	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs539304338	chr6:36154325-36154326	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs576992652	chr6:36154386-36154387	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs554198028	chr6:36154516-36154517	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs145149868	chr6:36154603-36154604	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs368459725	chr6:36154662-36154663	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs555062959	chr6:36154692-36154693	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs553659788	chr6:36154711-36154712	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs555629152	chr6:36154779-36154780	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs373435619	chr6:36154786-36154787	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs28874924	chr6:36154827-36154828	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs543590564	chr6:36154840-36154841	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs565265209	chr6:36154866-36154867	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs577194471	chr6:36154872-36154873	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs9380550	chr6:36154878-36154879	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs7451913	chr6:36154895-36154896	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs7454891	chr6:36154896-36154897	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs573648813	chr6:36154899-36154900	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs565485538	chr6:36154901-36154902	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs7451914	chr6:36154905-36154906	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs188893280	chr6:36154915-36154916	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs12208942	chr6:36154938-36154939	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs12208944	chr6:36154948-36154949	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs56959394	chr6:36154975-36154976	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs542562897	chr6:36154984-36154985	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs541064245	chr6:36154985-36154986	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs562663695	chr6:36154988-36154989	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs74630069	chr6:36154996-36154997	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs563190876	chr6:36155027-36155028	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs4318865	chr6:36155186-36155187	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs190953788	chr6:36155205-36155206	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs530512869	chr6:36155218-36155219	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs138979856	chr6:36155236-36155237	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs370057206	chr6:36155244-36155245	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs534346015	chr6:36155282-36155283	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs548037729	chr6:36155363-36155364	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs566387425	chr6:36155375-36155376	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs567857170	chr6:36155378-36155379	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs371348991	chr6:36155386-36155387	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs200152476	chr6:36155407-36155408	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs200565089	chr6:36155408-36155409	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36146000-36154000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:36146000-36163400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr6:36147400-36155400	Weak transcription	Primary T cells from cord blood	blood
4	chr6:36149000-36163600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr6:36152600-36163600	Weak transcription	Brain Angular Gyrus	brain
6	chr6:36153200-36155200	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr6:36153400-36155400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr6:36153600-36154200	Enhancers	Lung	lung
9	chr6:36154000-36154200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:36155000-36155200	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr6:36155000-36155600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:36155000-36156200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr6:36155200-36155600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:36155200-36155600	Enhancers	HUVEC	blood vessel
15	chr6:36155200-36155600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr6:36155200-36155800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr6:36155200-36156000	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr6:36155400-36155600	Enhancers	Primary T cells from cord blood	blood
19	chr6:36155400-36155600	Enhancers	Primary hematopoietic stem cells	blood
20	chr6:36155600-36156200	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr6:36155600-36163400	Weak transcription	Primary T cells from cord blood	blood
22	chr6:36155600-36163400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:36155800-36163600	Weak transcription	Psoas Muscle	Psoas
24	chr6:36156000-36157600	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr6:36156000-36163400	Weak transcription	Fetal Intestine Small	intestine

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