Variant report

Variant	esv2752487
Chromosome Location	chr6:44924394-44928953
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	ARID3A	chr6:44928633-44929024	HepG2	liver:	n/a	n/a
2	BHLHE40	chr6:44928669-44928955	GM12878	blood:	n/a	n/a
3	CBX3	chr6:44928552-44929041	HCT-116	colon:	n/a	n/a
4	CUX1	chr6:44928803-44928941	GM12878	blood:	n/a	n/a
5	E2F4	chr6:44928692-44928888	MCF10A-Er-Src	breast:	n/a	n/a
6	E2F4	chr6:44925856-44926042	MCF10A-Er-Src	breast:	n/a	n/a
7	EP300	chr6:44928665-44928977	HepG2	liver:	n/a	n/a
8	EP300	chr6:44928709-44929042	GM12878	blood:	n/a	n/a
9	EP300	chr6:44928682-44928938	GM12878	blood:	n/a	n/a
10	FOS	chr6:44928688-44928998	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr6:44928669-44929005	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr6:44928562-44929422	HUVEC	blood vessel:	n/a	n/a
13	GATA3	chr6:44925129-44925351	SH-SY5Y	brain:	n/a	chr6:44925247-44925268
14	GATA3	chr6:44924932-44925488	SK-N-SH	brain:	n/a	chr6:44925247-44925268
15	IRF1	chr6:44925937-44925953	K562	blood:	n/a	n/a
16	JUN	chr6:44928545-44929068	K562	blood:	n/a	n/a
17	JUND	chr6:44928721-44928911	K562	blood:	n/a	n/a
18	MYC	chr6:44928754-44928961	MCF10A-Er-Src	breast:	n/a	n/a
19	USF1	chr6:44925538-44925791	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:44917939..44922059-chr6:44925666..44928514,3	K562	blood:
2	chr6:44924333..44926933-chr6:44928218..44930920,2	K562	blood:
3	chr6:44924333..44926933-chr6:44928218..44930920,2	K562	blood:
4	chr6:44928658..44930221-chr6:45326668..45328264,2	K562	blood:

Variant related genes	Relation type
SUPT3H	TF binding region

Extended variants
information (count: 162 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:162 , 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	rs9689041	chr6:44924394-44924395	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs12214778	chr6:44924412-44924413	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs112666431	chr6:44924430-44924431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565193237	chr6:44924431-44924432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs511167	chr6:44924458-44924459	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs145232730	chr6:44924467-44924468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563445439	chr6:44924504-44924505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs3823254	chr6:44924520-44924521	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs149142650	chr6:44924587-44924588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370706654	chr6:44924590-44924591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534550452	chr6:44924614-44924615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546923865	chr6:44924686-44924687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs685327	chr6:44924708-44924709	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs538881437	chr6:44924709-44924710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557169135	chr6:44924739-44924740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575723879	chr6:44924754-44924755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536365567	chr6:44924758-44924759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9472408	chr6:44924788-44924789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145020125	chr6:44924826-44924827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138801926	chr6:44924895-44924896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113810358	chr6:44924914-44924915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs367565364	chr6:44924915-44924916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540195965	chr6:44924972-44924973	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs75725023	chr6:44925025-44925026	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs73735272	chr6:44925029-44925030	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs144874819	chr6:44925074-44925075	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs185295085	chr6:44925098-44925099	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs190002720	chr6:44925130-44925131	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs180940654	chr6:44925156-44925157	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs186162789	chr6:44925162-44925163	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs528131842	chr6:44925220-44925221	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs148249920	chr6:44925222-44925223	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs141234139	chr6:44925236-44925237	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs527326049	chr6:44925281-44925282	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs12210292	chr6:44925293-44925294	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs568981246	chr6:44925316-44925317	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs546871810	chr6:44925331-44925332	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs554775993	chr6:44925334-44925335	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs567005049	chr6:44925368-44925369	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs111577607	chr6:44925409-44925410	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs150750371	chr6:44925411-44925412	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs115778690	chr6:44925426-44925427	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs137963567	chr6:44925432-44925433	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs544520421	chr6:44925440-44925441	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs191498826	chr6:44925444-44925445	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs550730581	chr6:44925479-44925480	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs199771399	chr6:44925505-44925506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73735273	chr6:44925550-44925551	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs542398519	chr6:44925563-44925564	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs183290851	chr6:44925583-44925584	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16790693	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Systemic lupus erythematosus	19287148	CNVD
Colorectal cancer	19359472	CNVD
Multiple myeloma	16616336	CNVD
Chordoma	18071362	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Ovarian cancer	20844748	CNVD
lymphocytic leukemia	21291569	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44913400-44930000	Weak transcription	Pancreas	Pancrea
2	chr6:44913600-44928600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr6:44915400-44932800	Weak transcription	Left Ventricle	heart
4	chr6:44917800-44924800	Weak transcription	Primary B cells from cord blood	blood
5	chr6:44918000-44925000	Weak transcription	Fetal Heart	heart
6	chr6:44918000-44926600	Weak transcription	Esophagus	oesophagus
7	chr6:44918000-44928400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:44918200-44928400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:44919600-44925000	Weak transcription	Aorta	Aorta
10	chr6:44919600-44925400	Weak transcription	Ovary	ovary
11	chr6:44919600-44927600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr6:44919600-44943200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr6:44919800-44928600	Weak transcription	HepG2	liver
14	chr6:44920200-44924400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:44920600-44937600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr6:44923400-44935000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr6:44923600-44926200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:44924200-44925000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:44924400-44924800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:44926200-44926400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:44927400-44930400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:44928400-44928800	Enhancers	Muscle Satellite Cultured Cells	--
23	chr6:44928400-44929000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:44928400-44929200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:44928400-44930800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:44928600-44929000	Enhancers	GM12878-XiMat	blood
27	chr6:44928600-44929000	Enhancers	NHDF-Ad	bronchial
28	chr6:44928600-44929000	Enhancers	NHLF	lung
29	chr6:44928600-44929200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:44928600-44929200	Enhancers	HepG2	liver
31	chr6:44928800-44929200	Weak transcription	Primary B cells from cord blood	blood
32	chr6:44928800-44933800	Weak transcription	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links