Variant report

Variant	esv3390637
Chromosome Location	chr6:28719073-28721021
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28715243..28717665-chr6:28720660..28723020,3	MCF-7	breast:
2	chr6:28685640..28691299-chr6:28719887..28724041,7	K562	blood:
3	chr6:27859657..27862433-chr6:28721002..28723229,2	K562	blood:
4	chr6:28694600..28696603-chr6:28717973..28720482,2	K562	blood:
5	chr6:28720936..28723199-chr6:28731913..28733640,2	K562	blood:
6	chr6:28685695..28690739-chr6:28709794..28719692,17	K562	blood:
7	chr6:27100618..27103541-chr6:28717450..28720099,2	K562	blood:
8	chr6:28719866..28722717-chr6:28750909..28752820,2	K562	blood:
9	chr6:28701813..28704465-chr6:28720205..28723280,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000196331	chromatin interactions
ENSG00000233224	chromatin interactions
ENSG00000197153	chromatin interactions
ENSG00000196787	chromatin interactions
ENSG00000235559	chromatin interactions

Extended variants
information (count: 50 )
Associated
traits (count: 102 )

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	rs537395987	chr6:28719104-28719105	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs531694381	chr6:28719196-28719197	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs145821008	chr6:28719221-28719222	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs62408378	chr6:28719242-28719243	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs192041090	chr6:28719290-28719291	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs542307549	chr6:28719329-28719330	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs200610761	chr6:28719337-28719338	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs72545916	chr6:28719338-28719339	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs372982238	chr6:28719342-28719343	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs555918233	chr6:28719413-28719414	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs148999253	chr6:28719421-28719422	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs541052335	chr6:28719424-28719425	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs564546071	chr6:28719433-28719434	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs55641015	chr6:28719469-28719470	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs62696960	chr6:28719600-28719601	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs143819475	chr6:28719671-28719672	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs529463786	chr6:28719783-28719784	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs548642528	chr6:28719834-28719835	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs147760073	chr6:28719847-28719848	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs528227772	chr6:28719913-28719914	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs6915460	chr6:28719929-28719930	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs13218194	chr6:28719958-28719959	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs74839625	chr6:28719988-28719989	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs371986865	chr6:28720055-28720056	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs146939013	chr6:28720092-28720093	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs182668249	chr6:28720111-28720112	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs572438711	chr6:28720172-28720173	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs368092385	chr6:28720246-28720247	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs1233589	chr6:28720258-28720259	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs548749928	chr6:28720265-28720266	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs543676768	chr6:28720351-28720352	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs563662616	chr6:28720353-28720354	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs562311212	chr6:28720361-28720362	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs386698338	chr6:28720418-28720419	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs150133669	chr6:28720419-28720420	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs559940916	chr6:28720434-28720435	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs548180027	chr6:28720572-28720573	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs528124957	chr6:28720578-28720579	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs372246319	chr6:28720582-28720583	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs116740683	chr6:28720609-28720610	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs564691596	chr6:28720619-28720620	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs530541524	chr6:28720704-28720705	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs567553632	chr6:28720716-28720717	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs536591321	chr6:28720766-28720767	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs138589946	chr6:28720797-28720798	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs566662312	chr6:28720808-28720809	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs534770369	chr6:28720867-28720868	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs187020235	chr6:28720974-28720975	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs537028141	chr6:28720989-28720990	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs377268578	chr6:28721000-28721001	Weak transcription Enhancers Active TSS Flanking Active TSS	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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28715400-28725000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:28715600-28724800	Weak transcription	HMEC	breast
3	chr6:28716200-28719400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr6:28716600-28720200	Weak transcription	Hela-S3	cervix
5	chr6:28716600-28720400	Weak transcription	A549	lung
6	chr6:28718800-28720400	Active TSS	K562	blood
7	chr6:28718800-28724600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr6:28719000-28719400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr6:28719200-28719600	Enhancers	HepG2	liver
10	chr6:28719200-28719800	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr6:28719400-28719600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr6:28719400-28719600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr6:28719400-28719600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr6:28719400-28719800	Enhancers	H9 Cell Line	embryonic stem cell
15	chr6:28719400-28720800	Enhancers	Placenta	Placenta
16	chr6:28719600-28719800	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr6:28719600-28719800	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr6:28719600-28720200	Weak transcription	HepG2	liver
19	chr6:28719800-28722400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr6:28720200-28720400	Active TSS	Hela-S3	cervix
21	chr6:28720200-28720800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
22	chr6:28720400-28720800	Flanking Active TSS	A549	lung
23	chr6:28720400-28720800	Flanking Active TSS	K562	blood
24	chr6:28720400-28721000	Flanking Active TSS	Hela-S3	cervix
25	chr6:28720600-28720800	Enhancers	H1 Cell Line	embryonic stem cell
26	chr6:28720600-28720800	Enhancers	HepG2	liver
27	chr6:28720800-28721000	Active TSS	A549	lung
28	chr6:28720800-28721400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr6:28720800-28721400	Weak transcription	Placenta	Placenta
30	chr6:28720800-28721800	Active TSS	K562	blood
31	chr6:28721000-28723800	Weak transcription	A549	lung
32	chr6:28721000-28723800	Weak transcription	Hela-S3	cervix

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