Variant report

Variant	esv3419537
Chromosome Location	chr6:28412323-28414271
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr6:28412552-28412746	H1-hESC	embryonic stem cell:	n/a	n/a
2	FAM48A	chr6:28413506-28413585	GM12878	blood:	n/a	n/a
3	MAFF	chr6:28412702-28412917	HepG2	liver:	n/a	n/a
4	MAFK	chr6:28412660-28412911	IMR90	lung:	n/a	chr6:28412770-28412785 chr6:28412795-28412810
5	MAFK	chr6:28412689-28412903	HepG2	liver:	n/a	chr6:28412770-28412785 chr6:28412795-28412810
6	MAFK	chr6:28412661-28412916	HepG2	liver:	n/a	chr6:28412770-28412785 chr6:28412795-28412810
7	MXI1	chr6:28413894-28415609	SK-N-SH	brain:	n/a	n/a
8	NFYA	chr6:28412506-28412994	K562	blood:	n/a	chr6:28412704-28412722
9	NFYB	chr6:28412481-28413015	K562	blood:	n/a	chr6:28412801-28412816 chr6:28412842-28412857
10	NFYB	chr6:28412553-28412988	Hela-S3	cervix:	n/a	chr6:28412801-28412816 chr6:28412842-28412857
11	NFYB	chr6:28412498-28413030	GM12878	blood:	n/a	chr6:28412801-28412816 chr6:28412842-28412857
12	POLR2A	chr6:28412587-28412614	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr6:28411913-28412722	K562	blood:	n/a	n/a
14	POLR2A	chr6:28413178-28413355	K562	blood:	n/a	n/a
15	SETDB1	chr6:28412478-28412849	U2OS	brain:	n/a	n/a
16	SP1	chr6:28412605-28412994	GM12878	blood:	n/a	n/a
17	SP1	chr6:28412442-28413011	H1-hESC	embryonic stem cell:	n/a	n/a
18	SP1	chr6:28412596-28412906	GM12878	blood:	n/a	n/a
19	SP1	chr6:28412524-28413043	K562	blood:	n/a	n/a
20	SP1	chr6:28412427-28412960	H1-hESC	embryonic stem cell:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:28412459-28412509	GM12892	blood:	n/a
2	chr6:28412459-28412509	ProgFib	skin:	n/a
3	chr6:28412459-28412509	HCF	heart:	n/a
4	chr6:28412459-28412509	HRPEpiC	eye:	n/a
5	chr6:28412459-28412509	PANC-1	pancreas:	n/a
6	chr6:28412636-28412686	NB4	blood:	n/a
7	chr6:28412459-28412509	AG10803	skin:	n/a
8	chr6:28412459-28412509	H1-hESC	embryonic stem cell:	embryo
9	chr6:28412459-28412509	BJ	skin:	n/a
10	chr6:28412636-28412686	ovcar-3	ovarian:	n/a
11	chr6:28412636-28412686	AG10803	skin:	n/a
12	chr6:28412459-28412509	SK-N-SH_RA	brain:	n/a
13	chr6:28412459-28412509	RPTEC	kidney:	n/a
14	chr6:28412636-28412686	SK-N-SH_RA	brain:	n/a
15	chr6:28412636-28412686	HCF	heart:	n/a
16	chr6:28412636-28412686	SKMC	muscle:	n/a
17	chr6:28412459-28412509	CMK	blood:	n/a
18	chr6:28412459-28412509	HCPEpiC	choroid plexus:	n/a
19	chr6:28412636-28412686	BJ	skin:	n/a
20	chr6:28412459-28412509	K562	blood:	n/a
21	chr6:28412636-28412686	MCF10A-Er-Src	breast:	n/a
22	chr6:28412636-28412686	MCF-7	breast:	n/a
23	chr6:28412636-28412686	NHBE	bronchial:	n/a
24	chr6:28412459-28412509	HAEpiC	amniotic membrane:	n/a
25	chr6:28412459-28412509	HRCEpiC	kidney:	n/a
26	chr6:28412636-28412686	GM12891	blood:	n/a
27	chr6:28412636-28412686	NHDF-neo	bronchial:	n/a
28	chr6:28412459-28412509	Hela-S3	cervix:	n/a
29	chr6:28412636-28412686	HCT-116	colon:	n/a
30	chr6:28412636-28412686	HIPEpiC	eye:	n/a
31	chr6:28412459-28412509	U87	brain:	n/a
32	chr6:28412636-28412686	AG09319	gingival:	n/a
33	chr6:28412636-28412686	AoSMC	blood vessel:	n/a
34	chr6:28412459-28412509	HRE	kidney:	n/a
35	chr6:28412636-28412686	HNPCEpiC	eye:	n/a
36	chr6:28412636-28412686	RPTEC	kidney:	n/a
37	chr6:28412459-28412509	T-47D	breast:	n/a
38	chr6:28412636-28412686	HMEC	breast:	n/a
39	chr6:28412636-28412686	GM12892	blood:	n/a
40	chr6:28412459-28412509	MCF10A-Er-Src	breast:	n/a
41	chr6:28412636-28412686	ECC-1	luminal epithelium:	n/a
42	chr6:28412459-28412509	GM19239	blood:	n/a
43	chr6:28412459-28412509	SAEC	small airway:	n/a
44	chr6:28412459-28412509	HepG2	liver:	n/a
45	chr6:28412636-28412686	AG04449	skin:	fetal
46	chr6:28412459-28412509	AG04450	lung:	fetal
47	chr6:28412459-28412509	GM12878	blood:	n/a
48	chr6:28412636-28412686	H1-hESC	embryonic stem cell:	embryo
49	chr6:28412459-28412509	BE2_C	brain:	n/a
50	chr6:28412636-28412686	SK-N-SH	brain:	n/a

No data

Variant related genes	Relation type
COX11P1	TF binding region
ZSCAN23	TF binding region
COX11P1	CpG island
ZSCAN23	CpG island

Extended variants
information (count: 87 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2531805	chr6:28412326-28412327	Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs556640836	chr6:28412332-28412333	Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs34391588	chr6:28412346-28412347	Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs567379176	chr6:28412355-28412356	Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs369518026	chr6:28412375-28412376	Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs181121559	chr6:28412378-28412379	Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs545830936	chr6:28412385-28412386	Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs552781145	chr6:28412409-28412410	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs572678979	chr6:28412426-28412427	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs114424474	chr6:28412428-28412429	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs186366770	chr6:28412433-28412434	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs77009452	chr6:28412442-28412443	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs543802535	chr6:28412445-28412446	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs151281674	chr6:28412447-28412448	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs375846297	chr6:28412451-28412452	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs368147680	chr6:28412459-28412460	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
17	rs189350896	chr6:28412467-28412468	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
18	rs562866821	chr6:28412468-28412469	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
19	rs139343967	chr6:28412476-28412477	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
20	rs180937849	chr6:28412498-28412499	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
21	rs551966305	chr6:28412532-28412533	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs57229798	chr6:28412570-28412571	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs187336270	chr6:28412574-28412575	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs533272370	chr6:28412578-28412579	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs138182198	chr6:28412586-28412587	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs550568763	chr6:28412591-28412592	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs567134093	chr6:28412597-28412598	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs535967017	chr6:28412612-28412613	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs144418548	chr6:28412637-28412638	Weak transcription Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
30	rs566369711	chr6:28412660-28412661	Weak transcription Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
31	rs539406191	chr6:28412685-28412686	Weak transcription Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
32	rs2108923	chr6:28412687-28412688	Weak transcription Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs76374662	chr6:28412692-28412693	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs558420280	chr6:28412695-28412696	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs191011714	chr6:28412718-28412719	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs534259292	chr6:28412769-28412770	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs141429098	chr6:28412800-28412801	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs557353708	chr6:28412874-28412875	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs368863204	chr6:28412878-28412879	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs573950349	chr6:28412898-28412899	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs145187866	chr6:28412913-28412914	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs1361387	chr6:28412929-28412930	Weak transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs201207307	chr6:28413128-28413129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573328884	chr6:28413131-28413132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182866290	chr6:28413143-28413144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs57851117	chr6:28413148-28413149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565304485	chr6:28413149-28413150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536522681	chr6:28413163-28413164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372417364	chr6:28413164-28413165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540291685	chr6:28413167-28413168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Bipolar disorder	19114987	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28410400-28412400	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr6:28411600-28412400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
3	chr6:28411600-28412400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
4	chr6:28411600-28412400	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr6:28411600-28412400	Enhancers	Fetal Thymus	thymus
6	chr6:28411600-28412600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr6:28411600-28414400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr6:28411600-28414400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr6:28411600-28414400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:28411600-28414600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:28411600-28414600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:28411600-28414600	Weak transcription	NHLF	lung
13	chr6:28411600-28414800	Weak transcription	Aorta	Aorta
14	chr6:28411600-28414800	Weak transcription	Pancreas	Pancrea
15	chr6:28411800-28412400	Active TSS	Primary T cells from cord blood	blood
16	chr6:28411800-28412400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr6:28411800-28412800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr6:28411800-28414000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr6:28411800-28414200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr6:28411800-28414400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr6:28411800-28414400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr6:28411800-28414400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr6:28411800-28414400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr6:28411800-28414400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr6:28411800-28414400	Weak transcription	NH-A	brain
26	chr6:28411800-28414400	Weak transcription	Osteobl	bone
27	chr6:28411800-28414600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr6:28411800-28414600	Weak transcription	Right Ventricle	heart
29	chr6:28411800-28414600	Weak transcription	HSMM	muscle
30	chr6:28411800-28414600	Weak transcription	HSMMtube	muscle
31	chr6:28412000-28414400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr6:28412000-28414400	Weak transcription	HMEC	breast
33	chr6:28412000-28414600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr6:28412000-28414600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:28412400-28412600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr6:28414000-28415200	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr6:28414000-28415600	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr6:28414200-28414400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr6:28414200-28414600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:28414200-28414600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood

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