Variant report

Variant	esv3326087
Chromosome Location	chr6:29947573-29951271
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:29937399..29939324-chr6:29949163..29951713,2	K562	blood:
2	chr6:29941687..29943484-chr6:29948352..29949943,2	K562	blood:
3	chr6:29949567..29952384-chr6:29955471..29958344,3	K562	blood:
4	chr6:29950039..29951645-chr6:29953140..29954748,2	K562	blood:
5	chr6:29943564..29948104-chr6:29950580..29953407,4	MCF-7	breast:
6	chr6:29943871..29947343-chr6:29947953..29952410,7	K562	blood:
7	chr6:29944005..29947343-chr6:29947938..29951140,5	K562	blood:
8	chr6:29949567..29951883-chr6:29956360..29958897,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000204625	chromatin interactions

Extended variants
information (count: 258 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:258 , 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	rs370639312	chr6:29947592-29947593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372903049	chr6:29947601-29947602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562257802	chr6:29947649-29947650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377224992	chr6:29947652-29947653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370796941	chr6:29947667-29947668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9260900	chr6:29947714-29947715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9260901	chr6:29947734-29947735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9260902	chr6:29947740-29947741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572862297	chr6:29947758-29947759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373653065	chr6:29947759-29947760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs367755135	chr6:29947769-29947770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541070559	chr6:29947796-29947797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564462951	chr6:29947861-29947862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533290702	chr6:29947934-29947935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9260909	chr6:29948041-29948042	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs569551197	chr6:29948043-29948044	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs9260910	chr6:29948069-29948070	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs9260911	chr6:29948085-29948086	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs184289497	chr6:29948149-29948150	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs1264812	chr6:29948154-29948155	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs181796578	chr6:29948155-29948156	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs9260912	chr6:29948162-29948163	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
23	rs368162629	chr6:29948215-29948216	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs371962857	chr6:29948237-29948238	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs376261775	chr6:29948294-29948295	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs559690852	chr6:29948334-29948335	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs113193628	chr6:29948344-29948345	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs62968960	chr6:29948345-29948346	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs562652634	chr6:29948358-29948359	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs2108691	chr6:29948365-29948366	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs369755131	chr6:29948396-29948397	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs9260914	chr6:29948401-29948402	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs376420826	chr6:29948417-29948418	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs542462890	chr6:29948440-29948441	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs369404313	chr6:29948444-29948445	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs115831477	chr6:29948475-29948476	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs2735069	chr6:29948482-29948483	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs114950540	chr6:29948489-29948490	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs114528772	chr6:29948503-29948504	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs139415400	chr6:29948506-29948507	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs564353231	chr6:29948514-29948515	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs201263929	chr6:29948533-29948534	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs184626045	chr6:29948540-29948541	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs9260915	chr6:29948557-29948558	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs367582177	chr6:29948585-29948586	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs563463523	chr6:29948586-29948587	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs200037861	chr6:29948588-29948589	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs372070657	chr6:29948595-29948596	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs529303554	chr6:29948600-29948601	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs376037490	chr6:29948612-29948613	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:118)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
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
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	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
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571809	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	21509527	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Myelofibrosis	22110671	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Pancreatic cancer	17952125	CNVD
Rett syndrome	21593744	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29945200-29948600	Weak transcription	Small Intestine	intestine
2	chr6:29945200-29948600	Weak transcription	Spleen	Spleen
3	chr6:29945400-29948800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr6:29945400-29950200	Weak transcription	Right Atrium	heart
5	chr6:29945600-29948000	Weak transcription	Colonic Mucosa	Colon
6	chr6:29945600-29948600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr6:29945600-29948600	Weak transcription	Stomach Mucosa	stomach
8	chr6:29945600-29948800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr6:29945600-29966400	Weak transcription	Pancreas	Pancrea
10	chr6:29945800-29948800	Weak transcription	HepG2	liver
11	chr6:29948600-29948800	Enhancers	Colonic Mucosa	Colon
12	chr6:29948600-29948800	Enhancers	Spleen	Spleen
13	chr6:29948600-29949200	Enhancers	Small Intestine	intestine
14	chr6:29948600-29949400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:29948600-29949400	Enhancers	Fetal Intestine Large	intestine
16	chr6:29948600-29949600	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr6:29948600-29949600	Enhancers	Stomach Mucosa	stomach
18	chr6:29948800-29949000	Enhancers	Duodenum Mucosa	Duodenum
19	chr6:29948800-29949400	Enhancers	HepG2	liver
20	chr6:29948800-29949800	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr6:29949000-29949600	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr6:29949200-29949400	Bivalent Enhancer	Fetal Heart	heart
23	chr6:29949200-29949600	Enhancers	Fetal Intestine Small	intestine
24	chr6:29949400-29953400	Weak transcription	HepG2	liver
25	chr6:29949600-29949800	Active TSS	Duodenum Mucosa	Duodenum
26	chr6:29949800-29950200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr6:29950000-29950200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:29950200-29953600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr6:29950400-29951200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr6:29950600-29951200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links