Variant report

Variant	esv998264
Chromosome Location	chr6:33928881-33934613
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33928944..33932796-chr6:33933214..33936694,5	K562	blood:
2	chr6:33928847..33930667-chr6:33930699..33932351,2	K562	blood:
3	chr6:33928944..33932796-chr6:33933214..33936694,5	K562	blood:
4	chr6:33928175..33930963-chr6:33993122..33995355,2	MCF-7	breast:
5	chr6:33927135..33929143-chr6:33944981..33947651,2	MCF-7	breast:
6	chr6:33933752..33935770-chr6:33949390..33952772,4	MCF-7	breast:
7	chr6:33934133..33938274-chr6:33943444..33948778,6	MCF-7	breast:
8	chr6:33916864..33919171-chr6:33930801..33933029,2	MCF-7	breast:
9	chr6:33925599..33928278-chr6:33928837..33930807,2	K562	blood:
10	chr6:33928847..33930667-chr6:33930699..33932351,2	K562	blood:

No data

Extended variants
information (count: 254 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:254 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550627054	chr6:33928899-33928900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139540652	chr6:33928902-33928903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544386033	chr6:33928920-33928921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544141023	chr6:33929051-33929052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143154517	chr6:33929052-33929053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2495971	chr6:33929065-33929066	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs112849286	chr6:33929092-33929093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs151144734	chr6:33929115-33929116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545669262	chr6:33929124-33929125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560796745	chr6:33929131-33929132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185456669	chr6:33929163-33929164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548958204	chr6:33929179-33929180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146652364	chr6:33929215-33929216	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs531407187	chr6:33929229-33929230	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs549624931	chr6:33929281-33929282	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs73402419	chr6:33929301-33929302	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs538482665	chr6:33929403-33929404	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs190708450	chr6:33929418-33929419	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs565676198	chr6:33929469-33929470	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs59745721	chr6:33929481-33929482	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs531817176	chr6:33929511-33929512	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs61106803	chr6:33929518-33929519	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs573974723	chr6:33929527-33929528	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs538305103	chr6:33929538-33929539	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs192257634	chr6:33929544-33929545	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs578107531	chr6:33929553-33929554	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs374906228	chr6:33929561-33929562	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs114337748	chr6:33929572-33929573	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs184592603	chr6:33929583-33929584	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs543363352	chr6:33929595-33929596	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs77377936	chr6:33929596-33929597	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs375440138	chr6:33929638-33929639	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs531240773	chr6:33929771-33929772	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs371904689	chr6:33929774-33929775	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs5875482	chr6:33929777-33929778	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs543481550	chr6:33929792-33929793	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs564875512	chr6:33929856-33929857	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs140235315	chr6:33929860-33929861	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs73402422	chr6:33929881-33929882	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs4527686	chr6:33929911-33929912	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs529911775	chr6:33929939-33929940	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs548097325	chr6:33929955-33929956	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs567636718	chr6:33930020-33930021	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs55915614	chr6:33930027-33930028	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs61203056	chr6:33930040-33930041	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs571690864	chr6:33930044-33930045	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs539137860	chr6:33930089-33930090	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs376055344	chr6:33930105-33930106	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs188539093	chr6:33930144-33930145	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs201279291	chr6:33930156-33930157	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
abnormal development	18461090	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
Urothelial carcinoma	21177765	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

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33924800-33930000	Enhancers	Fetal Brain Male	brain
2	chr6:33926000-33931400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:33926000-33931600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:33926200-33930000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr6:33926400-33931000	Enhancers	NHEK	skin
6	chr6:33927000-33929000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:33927000-33942400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:33927200-33930000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr6:33927600-33929000	Enhancers	Esophagus	oesophagus
10	chr6:33927600-33931000	Enhancers	HMEC	breast
11	chr6:33928200-33929800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr6:33928400-33929000	Enhancers	Right Ventricle	heart
13	chr6:33928600-33929600	Weak transcription	Brain Germinal Matrix	brain
14	chr6:33928800-33930000	Weak transcription	Fetal Brain Female	brain
15	chr6:33929000-33929400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:33929000-33929400	Weak transcription	Esophagus	oesophagus
17	chr6:33929200-33929600	Bivalent Enhancer	Fetal Stomach	stomach
18	chr6:33929400-33930000	Enhancers	Esophagus	oesophagus
19	chr6:33929400-33931200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:33929600-33930600	Enhancers	NHDF-Ad	bronchial
21	chr6:33929600-33931000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:33929600-33931000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:33929600-33931000	Enhancers	Fetal Stomach	stomach
24	chr6:33929600-33931200	Enhancers	Brain Germinal Matrix	brain
25	chr6:33929800-33930400	Enhancers	Rectal Smooth Muscle	rectum
26	chr6:33929800-33930600	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr6:33929800-33930600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
28	chr6:33929800-33930600	Enhancers	Fetal Lung	lung
29	chr6:33930000-33930200	Enhancers	Fetal Brain Female	brain
30	chr6:33930000-33930400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr6:33930000-33930400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr6:33930000-33930600	Enhancers	Colon Smooth Muscle	Colon
33	chr6:33930000-33931000	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr6:33930200-33930600	Enhancers	Ovary	ovary
35	chr6:33930400-33930600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr6:33931600-33932000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr6:33932000-33932200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:33932200-33933600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr6:33933600-33934200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:33934600-33934800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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