Variant report

Variant	esv3422641
Chromosome Location	chr6:29732573-29737571
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	CTCF	chr6:29733900-29734050	GM12864	blood:	n/a	n/a
2	E2F4	chr6:29732717-29733005	MCF10A-Er-Src	breast:	n/a	n/a
3	EGR1	chr6:29732244-29732699	MCF-7	breast:	n/a	n/a
4	FOS	chr6:29732630-29733042	MCF10A-Er-Src	breast:	n/a	chr6:29732834-29732845
5	FOS	chr6:29732465-29733008	HUVEC	blood vessel:	n/a	chr6:29732834-29732845
6	FOS	chr6:29732525-29733086	MCF10A-Er-Src	breast:	n/a	chr6:29732834-29732845
7	FOS	chr6:29732577-29733086	MCF10A-Er-Src	breast:	n/a	chr6:29732834-29732845
8	FOS	chr6:29732629-29733025	MCF10A-Er-Src	breast:	n/a	chr6:29732834-29732845
9	FOXA1	chr6:29732720-29732969	HepG2	liver:	n/a	n/a
10	GATA3	chr6:29732305-29732660	MCF-7	breast:	n/a	n/a
11	GATA3	chr6:29732152-29732836	MCF-7	breast:	n/a	chr6:29732208-29732216
12	GATA3	chr6:29732268-29732709	MCF-7	breast:	n/a	n/a
13	JUN	chr6:29732762-29732911	HepG2	liver:	n/a	n/a
14	JUND	chr6:29732651-29732996	HepG2	liver:	n/a	chr6:29732834-29732845
15	MYC	chr6:29732663-29733030	MCF10A-Er-Src	breast:	n/a	n/a
16	MYC	chr6:29734709-29734827	H1-hESC	embryonic stem cell:	n/a	n/a
17	MYC	chr6:29732678-29732917	MCF10A-Er-Src	breast:	n/a	n/a
18	NR2F2	chr6:29732236-29732707	MCF-7	breast:	n/a	n/a
19	POLR2A	chr6:29732729-29732929	MCF10A-Er-Src	breast:	n/a	n/a
20	SIN3AK20	chr6:29732221-29732839	MCF-7	breast:	n/a	n/a
21	STAT3	chr6:29732678-29732908	MCF10A-Er-Src	breast:	n/a	n/a
22	STAT3	chr6:29735113-29735175	MCF10A-Er-Src	breast:	n/a	n/a
23	TCF7L2	chr6:29732378-29732578	MCF-7	breast:	n/a	n/a
24	ZMIZ1	chr6:29733915-29733923	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:29725785..29727435-chr6:29736523..29738044,2	MCF-7	breast:
2	chr6:29728325..29730576-chr6:29733816..29735445,2	K562	blood:

Variant related genes	Relation type
ENSG00000270896	TF binding region

Extended variants
information (count: 257 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:257 , 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	rs1737063	chr6:29732590-29732591	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs1737062	chr6:29732595-29732596	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs573964068	chr6:29732603-29732604	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs181188783	chr6:29732614-29732615	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs559420812	chr6:29732680-29732681	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs146202361	chr6:29732702-29732703	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs370631	chr6:29732744-29732745	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
8	rs530637939	chr6:29732780-29732781	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs2523420	chr6:29732813-29732814	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs139209070	chr6:29732893-29732894	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs183652574	chr6:29732903-29732904	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs1737060	chr6:29732969-29732970	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs546658733	chr6:29732973-29732974	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs566484378	chr6:29732993-29732994	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs144071509	chr6:29733018-29733019	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs373576940	chr6:29733034-29733035	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs369988227	chr6:29733035-29733036	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs375603130	chr6:29733040-29733041	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs146498900	chr6:29733072-29733073	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs114114307	chr6:29733094-29733095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs9258278	chr6:29733123-29733124	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs557613412	chr6:29733158-29733159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11753758	chr6:29733179-29733180	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs116164097	chr6:29733182-29733183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1633041	chr6:29733223-29733224	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs149107999	chr6:29733228-29733229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370702046	chr6:29733249-29733250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1737059	chr6:29733288-29733289	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs569166299	chr6:29733311-29733312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372365526	chr6:29733312-29733313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs202118307	chr6:29733340-29733341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200373649	chr6:29733346-29733347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs386698435	chr6:29733374-29733375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1737058	chr6:29733375-29733376	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs2735049	chr6:29733390-29733391	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs371070466	chr6:29733402-29733403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544103626	chr6:29733413-29733414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561233183	chr6:29733416-29733417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147039382	chr6:29733417-29733418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1737057	chr6:29733420-29733421	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs115508387	chr6:29733426-29733427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11751397	chr6:29733436-29733437	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs73747639	chr6:29733444-29733445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs201250995	chr6:29733455-29733456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11753812	chr6:29733462-29733463	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs200918286	chr6:29733491-29733492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs371686926	chr6:29733498-29733499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11751381	chr6:29733502-29733503	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs114915371	chr6:29733522-29733523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145065194	chr6:29733529-29733530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	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
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
Breast cancer	21509527	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29728600-29737200	Weak transcription	Lung	lung
2	chr6:29729000-29733800	Enhancers	HMEC	breast
3	chr6:29729400-29733400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:29729600-29733200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:29729600-29733400	Enhancers	NHEK	skin
6	chr6:29729600-29733600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:29729600-29733600	Enhancers	Esophagus	oesophagus
8	chr6:29729800-29733800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:29730200-29733000	Enhancers	HUVEC	blood vessel
10	chr6:29730200-29733400	Enhancers	NHDF-Ad	bronchial
11	chr6:29730200-29734600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:29730400-29732600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:29730400-29732800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr6:29730400-29733200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:29730600-29732600	Enhancers	GM12878-XiMat	blood
16	chr6:29730600-29733400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:29730600-29733400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr6:29731000-29733400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:29731200-29733400	Enhancers	Osteobl	bone
20	chr6:29731400-29739000	Weak transcription	Spleen	Spleen
21	chr6:29731600-29732800	Enhancers	NHLF	lung
22	chr6:29731600-29733400	Enhancers	Hela-S3	cervix
23	chr6:29731600-29738800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr6:29732000-29732600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr6:29732600-29732800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:29732800-29733800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr6:29733600-29755800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:29733800-29734600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr6:29734600-29736600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr6:29734600-29736600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:29735200-29735600	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr6:29736600-29738200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr6:29736600-29739000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr6:29737000-29737400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:29737000-29737800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:29737000-29738000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:29737200-29737400	Enhancers	Lung	lung
38	chr6:29737200-29737600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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