Variant report

Variant	esv2761063
Chromosome Location	chr6:13265334-13268211
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr6:13266621-13267023	K562	blood:	n/a	n/a
2	CEBPB	chr6:13267562-13267960	Hela-S3	cervix:	n/a	n/a
3	CHD2	chr6:13266824-13267111	HepG2	liver:	n/a	n/a
4	CHD2	chr6:13267596-13267883	Hela-S3	cervix:	n/a	n/a
5	FOS	chr6:13267583-13267920	MCF10A-Er-Src	breast:	n/a	chr6:13267717-13267729 chr6:13267719-13267727
6	FOS	chr6:13267627-13267851	MCF10A-Er-Src	breast:	n/a	chr6:13267717-13267729 chr6:13267719-13267727
7	FOS	chr6:13267576-13267851	MCF10A-Er-Src	breast:	n/a	chr6:13267717-13267729 chr6:13267719-13267727
8	FOS	chr6:13267573-13267866	MCF10A-Er-Src	breast:	n/a	chr6:13267717-13267729 chr6:13267719-13267727
9	MAX	chr6:13267545-13267940	Hela-S3	cervix:	n/a	n/a
10	MYC	chr6:13267518-13267865	MCF10A-Er-Src	breast:	n/a	n/a
11	MYC	chr6:13267521-13267976	MCF10A-Er-Src	breast:	n/a	n/a
12	NFYB	chr6:13265573-13265773	GM12878	blood:	n/a	chr6:13265736-13265748
13	POLR2A	chr6:13266731-13267296	K562	blood:	n/a	n/a
14	POLR2A	chr6:13265764-13265940	K562	blood:	n/a	n/a
15	POLR2A	chr6:13265340-13267538	K562	blood:	n/a	n/a
16	PRDM1	chr6:13267577-13267975	Hela-S3	cervix:	n/a	chr6:13267777-13267792
17	RAD21	chr6:13267618-13267932	Hela-S3	cervix:	n/a	n/a
18	RFX5	chr6:13267642-13267970	Hela-S3	cervix:	n/a	n/a
19	SMC3	chr6:13267599-13267929	Hela-S3	cervix:	n/a	n/a
20	STAT3	chr6:13267833-13268026	MCF10A-Er-Src	breast:	n/a	n/a
21	USF2	chr6:13267660-13267910	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:13259737..13263124-chr6:13265994..13271257,6	K562	blood:
2	chr6:13267359..13269532-chr6:13282342..13284920,2	MCF-7	breast:
3	chr6:13265469..13267865-chr6:13268622..13270348,2	K562	blood:
4	chr6:13258559..13263124-chr6:13265994..13271116,8	K562	blood:
5	chr6:13260333..13262275-chr6:13263480..13265827,3	K562	blood:
6	chr6:13266277..13270174-chr6:13278637..13282022,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GFOD1-1	chr6:13267728-13268067	ENSG00000215022.3

Variant related genes	Relation type
PHACTR1	TF binding region
ENSG00000215022	chromatin interactions

Extended variants
information (count: 117 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1223393	chr6:13265334-13265335	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530759893	chr6:13265372-13265373	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs202066	chr6:13265373-13265374	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs79378060	chr6:13265395-13265396	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569710887	chr6:13265417-13265418	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189621717	chr6:13265435-13265436	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560714312	chr6:13265489-13265490	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs56032676	chr6:13265501-13265502	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs529860856	chr6:13265551-13265552	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552331543	chr6:13265579-13265580	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140279438	chr6:13265593-13265594	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369207682	chr6:13265598-13265599	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200558474	chr6:13265599-13265600	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs202072094	chr6:13265600-13265601	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73359106	chr6:13265631-13265632	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs534922958	chr6:13265639-13265640	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34767877	chr6:13265666-13265667	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375734839	chr6:13265727-13265728	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546241186	chr6:13265731-13265732	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1937767	chr6:13265748-13265749	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs537794911	chr6:13265754-13265755	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76718603	chr6:13265771-13265772	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557221981	chr6:13265849-13265850	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147790811	chr6:13265870-13265871	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7754776	chr6:13265898-13265899	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141350087	chr6:13265917-13265918	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572965368	chr6:13265954-13265955	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544001696	chr6:13265962-13265963	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146979712	chr6:13265969-13265970	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372585501	chr6:13266061-13266062	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs202067	chr6:13266065-13266066	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs554792761	chr6:13266073-13266074	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529842296	chr6:13266080-13266081	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543737567	chr6:13266175-13266176	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563554651	chr6:13266252-13266253	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532167726	chr6:13266305-13266306	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552170461	chr6:13266309-13266310	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565789594	chr6:13266329-13266330	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182040009	chr6:13266355-13266356	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566356283	chr6:13266377-13266378	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184592802	chr6:13266389-13266390	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs77733818	chr6:13266441-13266442	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189062929	chr6:13266447-13266448	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570779024	chr6:13266478-13266479	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539462464	chr6:13266524-13266525	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181447916	chr6:13266546-13266547	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571884783	chr6:13266548-13266549	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542353213	chr6:13266586-13266587	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116275253	chr6:13266647-13266648	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186190188	chr6:13266681-13266682	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
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
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
small cell lung cancer	20016488	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
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Cancer	21183584	CNVD
Acute myeloid leukemia	18000384	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Metastatic melanoma	18483359	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13234600-13267200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:13248800-13266600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:13249000-13266000	Weak transcription	Fetal Brain Female	brain
4	chr6:13249200-13272200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr6:13249800-13287000	Weak transcription	Fetal Brain Male	brain
6	chr6:13254000-13265400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr6:13256400-13266400	Weak transcription	Aorta	Aorta
8	chr6:13256600-13266000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:13256600-13267000	Weak transcription	Fetal Stomach	stomach
10	chr6:13256600-13268800	Weak transcription	Right Ventricle	heart
11	chr6:13256600-13272200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr6:13256600-13273200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr6:13256600-13278200	Weak transcription	Pancreas	Pancrea
14	chr6:13258800-13272200	Weak transcription	Left Ventricle	heart
15	chr6:13259400-13267400	Weak transcription	Fetal Heart	heart
16	chr6:13259800-13266800	Weak transcription	K562	blood
17	chr6:13260600-13266600	Weak transcription	Brain Germinal Matrix	brain
18	chr6:13261000-13265800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:13261000-13266600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:13261000-13268800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr6:13261400-13266400	Weak transcription	Lung	lung
22	chr6:13261400-13272200	Weak transcription	Brain Angular Gyrus	brain
23	chr6:13261400-13272200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr6:13261400-13273000	Weak transcription	Adipose Nuclei	Adipose
25	chr6:13261600-13272200	Weak transcription	Brain Hippocampus Middle	brain
26	chr6:13262600-13272400	Enhancers	Primary B cells from peripheral blood	blood
27	chr6:13262600-13272800	Weak transcription	Primary T cells from cord blood	blood
28	chr6:13263000-13266400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr6:13263200-13269200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr6:13263400-13265800	Weak transcription	Brain Anterior Caudate	brain
31	chr6:13263400-13266200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:13263400-13266400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr6:13263400-13268800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr6:13263400-13272400	Weak transcription	Spleen	Spleen
35	chr6:13263600-13265800	Enhancers	Primary B cells from cord blood	blood
36	chr6:13263600-13266600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:13263800-13266800	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr6:13263800-13267800	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr6:13264000-13266200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr6:13264200-13266400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr6:13264200-13267600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr6:13264600-13272200	Weak transcription	Fetal Muscle Leg	muscle
43	chr6:13265400-13267800	Strong transcription	Stomach Smooth Muscle	stomach
44	chr6:13265800-13267200	Weak transcription	Primary B cells from cord blood	blood
45	chr6:13265800-13267800	Strong transcription	Brain Anterior Caudate	brain
46	chr6:13266000-13267400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:13266000-13267400	Strong transcription	Fetal Brain Female	brain
48	chr6:13266200-13267400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr6:13266200-13267800	Strong transcription	Primary hematopoietic stem cells	blood
50	chr6:13266400-13267000	ZNF genes & repeats	Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links