Variant report

Variant	esv3473950
Chromosome Location	chr6:35332913-35334470
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:35324260..35327105-chr6:35332379..35334972,3	K562	blood:
2	chr6:35333771..35336611-chr6:35358813..35361070,2	MCF-7	breast:
3	chr6:35329439..35333357-chr6:35335770..35342563,9	K562	blood:
4	chr6:35328832..35330634-chr6:35333716..35335607,2	K562	blood:
5	chr6:35324260..35326770-chr6:35333364..35334972,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 105 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35095549	chr6:35332988-35332989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374134636	chr6:35333079-35333080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552826389	chr6:35333081-35333082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575151491	chr6:35333116-35333117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539360538	chr6:35333139-35333140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557807745	chr6:35333169-35333170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141804010	chr6:35333208-35333209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571666073	chr6:35333225-35333226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200421769	chr6:35333275-35333276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113453800	chr6:35333276-35333277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539877395	chr6:35333287-35333288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377051854	chr6:35333337-35333338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147215354	chr6:35333370-35333371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs140550312	chr6:35333379-35333380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188715297	chr6:35333380-35333381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563882080	chr6:35333409-35333410	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181061581	chr6:35333547-35333548	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552828974	chr6:35333548-35333549	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564650584	chr6:35333591-35333592	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77104033	chr6:35333637-35333638	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546695680	chr6:35333665-35333666	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372507632	chr6:35333703-35333704	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542199074	chr6:35333705-35333706	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs9470001	chr6:35333741-35333742	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs60889636	chr6:35333754-35333755	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs550323421	chr6:35333778-35333779	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs9462076	chr6:35333799-35333800	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs539295217	chr6:35333874-35333875	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558012292	chr6:35333895-35333896	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573090135	chr6:35333924-35333925	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535803500	chr6:35333951-35333952	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185308926	chr6:35333961-35333962	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573737397	chr6:35334201-35334202	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544315057	chr6:35334238-35334239	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189888319	chr6:35334248-35334249	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371301555	chr6:35334250-35334251	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116829806	chr6:35334263-35334264	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181759567	chr6:35334289-35334290	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375114675	chr6:35334332-35334333	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564765413	chr6:35334343-35334344	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs80118382	chr6:35334346-35334347	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78562747	chr6:35334348-35334349	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75625695	chr6:35334349-35334350	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187314363	chr6:35334353-35334354	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9470002	chr6:35334388-35334389	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561759418	chr6:35334389-35334390	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147904449	chr6:35334396-35334397	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139935219	chr6:35334408-35334409	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569039130	chr6:35334421-35334422	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532947234	chr6:35334463-35334464	Weak transcription Strong transcription Enhancers	n/a	n/a	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
small cell lung cancer	17426248	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35313000-35335600	Weak transcription	Small Intestine	intestine
2	chr6:35317400-35333000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr6:35321000-35342400	Weak transcription	Fetal Kidney	kidney
4	chr6:35322000-35336000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr6:35325200-35335800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:35325400-35335600	Weak transcription	Dnd41	blood
7	chr6:35326400-35335600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr6:35327000-35336200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:35327600-35335800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr6:35328400-35344800	Weak transcription	Fetal Lung	lung
11	chr6:35328600-35335200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr6:35328800-35335000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:35328800-35336000	Weak transcription	HMEC	breast
14	chr6:35329000-35335200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:35329000-35335200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:35329000-35335800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr6:35329000-35336600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr6:35329000-35350800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:35329200-35334800	Weak transcription	Primary B cells from cord blood	blood
20	chr6:35329200-35335400	Weak transcription	Adipose Nuclei	Adipose
21	chr6:35329200-35335400	Weak transcription	Esophagus	oesophagus
22	chr6:35329200-35335400	Weak transcription	Spleen	Spleen
23	chr6:35329200-35335400	Weak transcription	HepG2	liver
24	chr6:35329200-35336000	Weak transcription	Colon Smooth Muscle	Colon
25	chr6:35329200-35337800	Weak transcription	Ovary	ovary
26	chr6:35329600-35336000	Weak transcription	Pancreas	Pancrea
27	chr6:35329600-35338400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr6:35330400-35336000	Weak transcription	Primary T cells from cord blood	blood
29	chr6:35330600-35336000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr6:35330800-35333600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr6:35331000-35333400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr6:35331000-35335200	Weak transcription	NHLF	lung
33	chr6:35331000-35335800	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr6:35331200-35333600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr6:35331200-35335400	Weak transcription	NH-A	brain
36	chr6:35331200-35335600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr6:35331200-35336200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr6:35331200-35336400	Weak transcription	Thymus	Thymus
39	chr6:35331200-35337800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr6:35331200-35350800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr6:35331400-35333200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr6:35331400-35333400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr6:35331400-35333600	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr6:35331400-35333600	Weak transcription	GM12878-XiMat	blood
45	chr6:35331400-35334600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr6:35331400-35334800	Weak transcription	Brain Hippocampus Middle	brain
47	chr6:35331400-35335200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr6:35331400-35335200	Weak transcription	Lung	lung
49	chr6:35331400-35335400	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr6:35331400-35335600	Weak transcription	Hela-S3	cervix

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