Variant report

Variant	esv3452210
Chromosome Location	chr6:28938623-28942121
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:28939053-28939205	HepG2	liver:	n/a	n/a
2	MAFK	chr6:28941675-28941814	HepG2	liver:	n/a	n/a
3	MAFK	chr6:28941666-28941774	HepG2	liver:	n/a	n/a
4	POLR2A	chr6:28939237-28939248	MCF-7	breast:	n/a	n/a
5	POLR2A	chr6:28939204-28939236	MCF-7	breast:	n/a	n/a
6	POLR2A	chr6:28939508-28939691	K562	blood:	n/a	n/a
7	TEAD4	chr6:28942073-28942806	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28910728..28913572-chr6:28940142..28942104,3	K562	blood:
2	chr6:28890417..28892257-chr6:28941024..28943195,2	MCF-7	breast:
3	chr6:28887886..28894013-chr6:28935014..28940220,8	K562	blood:
4	chr6:28940964..28943621-chr6:28945663..28948952,4	K562	blood:
5	chr6:28889372..28892274-chr6:28936954..28941148,4	K562	blood:

No data

Variant related genes	Relation type
RN7SL471P	TF binding region
KRT18P1	TF binding region
ENSG00000204713	chromatin interactions
ENSG00000204709	chromatin interactions

Extended variants
information (count: 155 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:155 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143294269	chr6:28938713-28938714	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs375176707	chr6:28938732-28938733	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs369572211	chr6:28938750-28938751	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs539904090	chr6:28938781-28938782	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs549806812	chr6:28938786-28938787	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs556311114	chr6:28938805-28938806	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs12110931	chr6:28938815-28938816	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs535788385	chr6:28938860-28938861	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs556197431	chr6:28938883-28938884	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs191210717	chr6:28938891-28938892	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs149530316	chr6:28938933-28938934	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs572404157	chr6:28938944-28938945	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs541269493	chr6:28938947-28938948	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs564324031	chr6:28938951-28938952	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs577693619	chr6:28938956-28938957	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs569119726	chr6:28938979-28938980	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs543479613	chr6:28939025-28939026	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs566700204	chr6:28939050-28939051	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs12055619	chr6:28939117-28939118	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs184790314	chr6:28939119-28939120	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs550632739	chr6:28939140-28939141	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs372916206	chr6:28939149-28939150	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs549303524	chr6:28939208-28939209	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs189211221	chr6:28939212-28939213	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs528384514	chr6:28939223-28939224	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs372850877	chr6:28939243-28939244	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs3130885	chr6:28939283-28939284	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs571395295	chr6:28939285-28939286	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs557653791	chr6:28939425-28939426	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs539570999	chr6:28939463-28939464	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs374852187	chr6:28939519-28939520	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs370965940	chr6:28939520-28939521	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs370276828	chr6:28939527-28939528	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs7757577	chr6:28939540-28939541	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs574472124	chr6:28939542-28939543	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs376829181	chr6:28939544-28939545	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs7757578	chr6:28939546-28939547	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs200175453	chr6:28939562-28939563	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs550213775	chr6:28939578-28939579	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs569959444	chr6:28939593-28939594	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs535410586	chr6:28939612-28939613	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs182028165	chr6:28939613-28939614	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs376256238	chr6:28939630-28939631	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs534964020	chr6:28939665-28939666	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs184993161	chr6:28939694-28939695	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs190234718	chr6:28939734-28939735	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs201981581	chr6:28939819-28939820	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs367549896	chr6:28939820-28939821	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs13209481	chr6:28939851-28939852	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs376486465	chr6:28939875-28939876	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	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
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
Breast cancer	22032731	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
T-cell lymphomas	19863542	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
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21364760	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

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28937800-28944800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:28938400-28938800	Enhancers	HepG2	liver
3	chr6:28938800-28941800	Weak transcription	HepG2	liver
4	chr6:28941800-28943200	Enhancers	HepG2	liver
5	chr6:28942000-28942400	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr6:28942000-28943200	Enhancers	K562	blood

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