Variant report

Variant	esv1810791
Chromosome Location	chr6:58139506-58148965
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 312 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:312 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575005295	chr6:58141208-58141209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535692690	chr6:58141224-58141225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557199258	chr6:58141245-58141246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183776776	chr6:58141273-58141274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111445126	chr6:58141352-58141353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545789051	chr6:58141357-58141358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112304630	chr6:58141368-58141369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112370365	chr6:58141372-58141373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564180201	chr6:58141378-58141379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs62412337	chr6:58141427-58141428	Bivalent/Poised TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs375446090	chr6:58141436-58141437	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540747109	chr6:58141440-58141441	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368627485	chr6:58141449-58141450	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186965648	chr6:58141463-58141464	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs367555793	chr6:58141485-58141486	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370276998	chr6:58141516-58141517	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562062052	chr6:58141542-58141543	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529862280	chr6:58141553-58141554	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541671098	chr6:58141569-58141570	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563530158	chr6:58141573-58141574	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373644013	chr6:58141590-58141591	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552195297	chr6:58141662-58141663	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs548179871	chr6:58141670-58141671	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs528153281	chr6:58141744-58141745	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs546647530	chr6:58141762-58141763	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs568079323	chr6:58141766-58141767	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs535996737	chr6:58141767-58141768	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs202227447	chr6:58141768-58141769	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs143584179	chr6:58141774-58141775	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs539777049	chr6:58141819-58141820	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs557706314	chr6:58141820-58141821	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs573160441	chr6:58141848-58141849	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs114738914	chr6:58141854-58141855	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs115657434	chr6:58141869-58141870	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs13362721	chr6:58141876-58141877	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
36	rs371412677	chr6:58141878-58141879	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs555788154	chr6:58141879-58141880	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs13362752	chr6:58141886-58141887	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs542044279	chr6:58141890-58141891	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs563517594	chr6:58141891-58141892	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs570002623	chr6:58141895-58141896	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs538889782	chr6:58141904-58141905	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs546147590	chr6:58141905-58141906	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs200015566	chr6:58141913-58141914	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs78359853	chr6:58141920-58141921	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs112263870	chr6:58141939-58141940	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs62412338	chr6:58141946-58141947	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs117780823	chr6:58141952-58141953	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs568143105	chr6:58141957-58141958	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs192483975	chr6:58141960-58141961	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	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
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Neuroblastoma	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
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Schizophrenia	20967226	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD

Chromatin state (count:351 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:58141200-58141600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:58141400-58141800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr6:58141400-58143200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr6:58141400-58143400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr6:58141600-58141800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:58141600-58141800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:58141600-58141800	Bivalent Enhancer	Brain Germinal Matrix	brain
8	chr6:58141600-58141800	Bivalent Enhancer	Placenta	Placenta
9	chr6:58141600-58141800	Bivalent Enhancer	NHDF-Ad	bronchial
10	chr6:58141600-58142000	Bivalent Enhancer	HUVEC	blood vessel
11	chr6:58141600-58142000	Active TSS	K562	blood
12	chr6:58141600-58142200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr6:58141600-58142200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr6:58141600-58142200	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr6:58141600-58142400	Active TSS	H1 Cell Line	embryonic stem cell
16	chr6:58141600-58143000	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr6:58141600-58143000	Active TSS	H9 Cell Line	embryonic stem cell
18	chr6:58141600-58143000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
19	chr6:58141600-58143000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:58141600-58143000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:58141600-58143200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr6:58141600-58143400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr6:58141800-58142000	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:58141800-58142000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
25	chr6:58141800-58142000	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:58141800-58142000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:58141800-58142000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr6:58141800-58142000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
29	chr6:58141800-58142000	Bivalent Enhancer	Fetal Stomach	stomach
30	chr6:58141800-58142000	Bivalent Enhancer	Fetal Thymus	thymus
31	chr6:58141800-58142000	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
32	chr6:58141800-58142000	Bivalent Enhancer	NHEK	skin
33	chr6:58141800-58142200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:58141800-58142200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
35	chr6:58141800-58142200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
36	chr6:58141800-58142200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
37	chr6:58141800-58142200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr6:58141800-58142200	Bivalent Enhancer	Adipose Nuclei	Adipose
39	chr6:58141800-58142200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
40	chr6:58141800-58142200	Bivalent Enhancer	Esophagus	oesophagus
41	chr6:58141800-58142200	ZNF genes & repeats	Right Atrium	heart
42	chr6:58141800-58142400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr6:58141800-58142600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr6:58141800-58142600	Enhancers	Pancreas	Pancrea
45	chr6:58141800-58143000	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr6:58142000-58142200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr6:58142000-58142200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr6:58142000-58142200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr6:58142000-58142200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr6:58142000-58142200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links