Variant report

Variant	esv2548254
Chromosome Location	chr6:147601110-147602624
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:147522256..147524439-chr6:147601454..147603467,2	MCF-7	breast:
2	chr6:147588082..147592199-chr6:147598950..147601651,3	K562	blood:
3	chr6:147596142..147599213-chr6:147600887..147603555,4	K562	blood:
4	chr6:147598044..147601159-chr6:147601266..147602927,3	K562	blood:
5	chr6:147600867..147603452-chr6:147606920..147609139,2	K562	blood:
6	chr6:147598044..147601159-chr6:147601266..147602927,3	K562	blood:
7	chr6:147532510..147534071-chr6:147598840..147601829,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000233452	chromatin interactions

Extended variants
information (count: 58 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530993406	chr6:147601111-147601112	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553393433	chr6:147601131-147601132	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563024275	chr6:147601132-147601133	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11423985	chr6:147601203-147601204	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs397794578	chr6:147601214-147601215	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs80158967	chr6:147601215-147601216	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546412948	chr6:147601222-147601223	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566298909	chr6:147601238-147601239	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534897147	chr6:147601301-147601302	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542050644	chr6:147601381-147601382	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371994306	chr6:147601382-147601383	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs114572460	chr6:147601385-147601386	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373325035	chr6:147601401-147601402	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192737871	chr6:147601406-147601407	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537842883	chr6:147601418-147601419	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148728753	chr6:147601432-147601433	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571990076	chr6:147601435-147601436	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73788902	chr6:147601436-147601437	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs554415933	chr6:147601516-147601517	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs184174268	chr6:147601535-147601536	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs190732553	chr6:147601542-147601543	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs555158032	chr6:147601543-147601544	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs142219864	chr6:147601591-147601592	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs150806473	chr6:147601629-147601630	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs182019932	chr6:147601679-147601680	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs551029722	chr6:147601681-147601682	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs116008189	chr6:147601722-147601723	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs540097141	chr6:147601758-147601759	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs184447112	chr6:147601828-147601829	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs529054366	chr6:147601848-147601849	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs17076681	chr6:147601852-147601853	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs73584537	chr6:147601875-147601876	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs531800962	chr6:147601894-147601895	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs551498598	chr6:147601925-147601926	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs571625167	chr6:147602006-147602007	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs574538586	chr6:147602051-147602052	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs181359237	chr6:147602065-147602066	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs76472567	chr6:147602220-147602221	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs185488056	chr6:147602243-147602244	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs368977151	chr6:147602253-147602254	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs567898391	chr6:147602255-147602256	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs536428410	chr6:147602270-147602271	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs188391734	chr6:147602323-147602324	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs180973233	chr6:147602334-147602335	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs373478690	chr6:147602338-147602339	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs377439518	chr6:147602353-147602354	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs544261640	chr6:147602385-147602386	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs113077731	chr6:147602440-147602441	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs377762422	chr6:147602462-147602463	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs557340712	chr6:147602471-147602472	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	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
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung cancer	18438408	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:157 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147545600-147617000	Weak transcription	Small Intestine	intestine
2	chr6:147549400-147616800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr6:147564400-147604600	Weak transcription	NHLF	lung
4	chr6:147564400-147619000	Weak transcription	Hela-S3	cervix
5	chr6:147564600-147608800	Weak transcription	NH-A	brain
6	chr6:147564600-147617000	Weak transcription	Fetal Kidney	kidney
7	chr6:147570600-147609000	Weak transcription	Brain Substantia Nigra	brain
8	chr6:147572600-147605800	Weak transcription	Brain Anterior Caudate	brain
9	chr6:147572600-147609600	Weak transcription	Thymus	Thymus
10	chr6:147572600-147610200	Weak transcription	Esophagus	oesophagus
11	chr6:147572800-147605800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr6:147572800-147617000	Weak transcription	Right Ventricle	heart
13	chr6:147573000-147616600	Weak transcription	Ovary	ovary
14	chr6:147573000-147616800	Weak transcription	Aorta	Aorta
15	chr6:147573200-147610000	Weak transcription	Fetal Stomach	stomach
16	chr6:147573200-147617000	Weak transcription	Spleen	Spleen
17	chr6:147573400-147609200	Weak transcription	Pancreas	Pancrea
18	chr6:147573800-147608600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:147574400-147616600	Weak transcription	Fetal Brain Female	brain
20	chr6:147576800-147609800	Weak transcription	HSMMtube	muscle
21	chr6:147578200-147616800	Weak transcription	Fetal Muscle Leg	muscle
22	chr6:147579200-147610000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:147579400-147609800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr6:147584400-147684600	Weak transcription	Brain Angular Gyrus	brain
25	chr6:147584800-147606000	Weak transcription	Brain Hippocampus Middle	brain
26	chr6:147585000-147603200	Weak transcription	Colon Smooth Muscle	Colon
27	chr6:147585800-147617200	Weak transcription	Fetal Brain Male	brain
28	chr6:147587000-147618000	Weak transcription	Psoas Muscle	Psoas
29	chr6:147587600-147609400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr6:147588600-147616800	Weak transcription	Brain Germinal Matrix	brain
31	chr6:147588800-147617000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr6:147589000-147602400	Weak transcription	Placenta	Placenta
33	chr6:147589400-147608600	Weak transcription	NHEK	skin
34	chr6:147590400-147616400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr6:147590600-147602800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr6:147593200-147608600	Weak transcription	A549	lung
37	chr6:147593400-147606000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr6:147595000-147610000	Weak transcription	Lung	lung
39	chr6:147595200-147604600	Weak transcription	Fetal Intestine Small	intestine
40	chr6:147595800-147616600	Weak transcription	Colonic Mucosa	Colon
41	chr6:147596400-147601200	Strong transcription	Duodenum Mucosa	Duodenum
42	chr6:147596400-147601800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr6:147596400-147603200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr6:147597000-147601200	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr6:147597800-147605400	Strong transcription	HSMM	muscle
46	chr6:147598000-147601400	Strong transcription	Fetal Intestine Large	intestine
47	chr6:147598000-147617000	Strong transcription	K562	blood
48	chr6:147598200-147616600	Weak transcription	Gastric	stomach
49	chr6:147598400-147602600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr6:147598600-147601600	Weak transcription	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links