Variant report

Variant	esv17149
Chromosome Location	chr6:44692192-44693108
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:44689048..44691057-chr6:44692062..44695050,2	K562	blood:
2	chr6:44691206..44694141-chr6:44700242..44701897,2	K562	blood:
3	chr6:44681103..44683539-chr6:44690355..44693257,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543025876	chr6:44692192-44692193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs227844	chr6:44692212-44692213	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs538824885	chr6:44692236-44692237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144983077	chr6:44692243-44692244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540956698	chr6:44692291-44692292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558828563	chr6:44692332-44692333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533168134	chr6:44692350-44692351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572278763	chr6:44692355-44692356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141581044	chr6:44692359-44692360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79406833	chr6:44692362-44692363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs600005	chr6:44692364-44692365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377501466	chr6:44692365-44692366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs70993470	chr6:44692366-44692367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368501234	chr6:44692367-44692368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs201719418	chr6:44692368-44692369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563806762	chr6:44692388-44692389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530985130	chr6:44692438-44692439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576741362	chr6:44692524-44692525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567708284	chr6:44692599-44692600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142067850	chr6:44692627-44692628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541083963	chr6:44692663-44692664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144263332	chr6:44692757-44692758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10456535	chr6:44692758-44692759	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs539228570	chr6:44692785-44692786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187187113	chr6:44692817-44692818	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs10456118	chr6:44692825-44692826	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs76763086	chr6:44692865-44692866	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs555023646	chr6:44692879-44692880	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs543086269	chr6:44692885-44692886	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs540636188	chr6:44692889-44692890	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs192007017	chr6:44692890-44692891	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs184463538	chr6:44692907-44692908	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs572454436	chr6:44692943-44692944	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs545197066	chr6:44692966-44692967	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs10456536	chr6:44692995-44692996	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs546094634	chr6:44693000-44693001	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs55905150	chr6:44693039-44693040	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs559471649	chr6:44693054-44693055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs34364523	chr6:44693068-44693069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543169472	chr6:44693069-44693070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561350257	chr6:44693077-44693078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528508244	chr6:44693083-44693084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs367916047	chr6:44693085-44693086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs60328783	chr6:44693099-44693100	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:94)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44689600-44693200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:44690200-44693200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:44690400-44698000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:44691400-44692600	Weak transcription	Adipose Nuclei	Adipose
5	chr6:44691400-44692800	Weak transcription	Right Atrium	heart
6	chr6:44691400-44695400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:44691600-44693000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:44691600-44695400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:44691800-44692800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr6:44691800-44692800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:44692000-44692800	Weak transcription	Spleen	Spleen
12	chr6:44692400-44693000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr6:44692600-44693000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr6:44692600-44693000	Enhancers	Adipose Nuclei	Adipose
15	chr6:44692600-44693400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:44692600-44693600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:44692800-44693000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr6:44692800-44693000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:44692800-44693000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:44692800-44693000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:44692800-44693000	Flanking Bivalent TSS/Enh	Left Ventricle	heart
22	chr6:44692800-44693000	Enhancers	Lung	lung
23	chr6:44692800-44693000	Enhancers	Right Atrium	heart
24	chr6:44692800-44693000	Enhancers	Spleen	Spleen
25	chr6:44693000-44693200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:44693000-44695400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr6:44693000-44698200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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