Variant report

Variant	esv2753967
Chromosome Location	chr13:85956153-86093716
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:86033358..86036212-chr13:86039864..86042849,2	MCF-7	breast:
2	chr13:86012041..86014222-chr13:86015485..86017247,2	K562	blood:
3	chr13:86033358..86036212-chr13:86039864..86042849,2	MCF-7	breast:
4	chr13:86012041..86014222-chr13:86015485..86017247,2	K562	blood:
5	chr13:86078290..86080136-chr13:86083159..86084884,2	MCF-7	breast:
6	chr13:86081905..86084326-chr13:86372446..86374070,2	MCF-7	breast:
7	chr13:86078290..86080136-chr13:86083159..86084884,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK5-11	chr13:85982740-85982882	XLOC_010460
2	lnc-SLITRK5-11	chr13:85985736-85986331	XLOC_010460

No data

Variant related genes	Relation type
ENSG00000184564	chromatin interactions
PDE3B	miRNA target sites
PDE4D	miRNA target sites

Extended variants
information (count: 2250 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:2250 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191272094	chr13:85959224-85959225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs9575878	chr13:85959288-85959289	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs182684428	chr13:85959293-85959294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559372634	chr13:85959308-85959309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77294416	chr13:85959314-85959315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545118257	chr13:85959315-85959316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116696025	chr13:85959327-85959328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530737733	chr13:85959350-85959351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548865547	chr13:85959392-85959393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184282694	chr13:85960265-85960266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577573553	chr13:85960289-85960290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs367860847	chr13:85960623-85960624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181062187	chr13:85960673-85960674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184856380	chr13:85960710-85960711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs17363957	chr13:85960731-85960732	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs6563446	chr13:85960770-85960771	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs371785735	chr13:85960811-85960812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539990639	chr13:85960830-85960831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189581068	chr13:85960836-85960837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150153027	chr13:85960846-85960847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550579690	chr13:85960871-85960872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138585181	chr13:85960910-85960911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs17079764	chr13:85960996-85960997	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs140771356	chr13:85961035-85961036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371820062	chr13:85961083-85961084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561132546	chr13:85961172-85961173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548392312	chr13:85961200-85961201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374055652	chr13:85974423-85974424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575028201	chr13:85974427-85974428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190611025	chr13:85974428-85974429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538199203	chr13:85974429-85974430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183161131	chr13:85974432-85974433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546048038	chr13:85974481-85974482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564820748	chr13:85974507-85974508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186274049	chr13:85974518-85974519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543836410	chr13:85974570-85974571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191501296	chr13:85974575-85974576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529785816	chr13:85974579-85974580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548271076	chr13:85974620-85974621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144908073	chr13:85974649-85974650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372913070	chr13:85974724-85974725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs527503360	chr13:85974729-85974730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552065004	chr13:85974738-85974739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs376159423	chr13:85974755-85974756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548823987	chr13:85974793-85974794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570759863	chr13:85974812-85974813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116282059	chr13:85974844-85974845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs116106360	chr13:85974849-85974850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568470502	chr13:85974874-85974875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145734730	chr13:85974896-85974897	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21858162	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	19490664	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-small cell lung cancer	16651412	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:202 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:85959200-85959400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:85960200-85960400	Enhancers	Primary B cells from cord blood	blood
3	chr13:85960600-85961000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:85960600-85961000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr13:85960600-85961000	Enhancers	Fetal Lung	lung
6	chr13:85960600-85961200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:85960600-85961200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr13:85960600-85961200	Enhancers	NH-A	brain
9	chr13:85961000-85961200	Enhancers	Primary B cells from cord blood	blood
10	chr13:85974400-85975400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr13:85975000-85975200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr13:85979200-85979400	Enhancers	Brain Hippocampus Middle	brain
13	chr13:85979400-85979600	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr13:85979400-85979600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr13:85979400-85979800	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr13:85979600-85979800	Enhancers	Brain Angular Gyrus	brain
17	chr13:85979600-85980000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr13:85979600-85980200	Active TSS	Brain Cingulate Gyrus	brain
19	chr13:85979600-85980800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
20	chr13:85979600-85981200	Active TSS	Brain Anterior Caudate	brain
21	chr13:85979800-85980400	Weak transcription	Brain Angular Gyrus	brain
22	chr13:85979800-85980400	Active TSS	Brain Hippocampus Middle	brain
23	chr13:85979800-85980400	Enhancers	Brain Substantia Nigra	brain
24	chr13:85980000-85980600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr13:85980000-85980600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr13:85980200-85980800	Flanking Active TSS	Brain Cingulate Gyrus	brain
27	chr13:85980400-85980800	Active TSS	Brain Angular Gyrus	brain
28	chr13:85980400-85980800	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr13:85980400-85980800	Flanking Active TSS	Brain Substantia Nigra	brain
30	chr13:85980400-85981200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr13:85980800-85981200	Active TSS	Brain Cingulate Gyrus	brain
32	chr13:85980800-85981200	Active TSS	Brain Hippocampus Middle	brain
33	chr13:85980800-85981200	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr13:85980800-85981200	Active TSS	Brain Substantia Nigra	brain
35	chr13:85981200-85982200	Weak transcription	Brain Substantia Nigra	brain
36	chr13:85982200-85982400	Enhancers	Brain Substantia Nigra	brain
37	chr13:85985800-85986200	Enhancers	Fetal Lung	lung
38	chr13:85985800-85986200	Enhancers	Fetal Stomach	stomach
39	chr13:85986200-86001400	Weak transcription	Fetal Lung	lung
40	chr13:85993600-85994000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr13:85993600-85994000	Enhancers	HMEC	breast
42	chr13:85993600-85994000	Enhancers	NHEK	skin
43	chr13:86001200-86001600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr13:86001400-86001800	Enhancers	Fetal Lung	lung
45	chr13:86002200-86004600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr13:86004800-86005000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
47	chr13:86005000-86005200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr13:86005200-86005400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr13:86005200-86005600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr13:86005400-86006200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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