Variant report

Variant	esv2754435
Chromosome Location	chr13:85947547-86136370
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:11)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:86078290..86080136-chr13:86083159..86084884,2	MCF-7	breast:
2	chr13:86099181..86102107-chr13:86106453..86108708,2	MCF-7	breast:
3	chr13:86078290..86080136-chr13:86083159..86084884,2	MCF-7	breast:
4	chr13:86012041..86014222-chr13:86015485..86017247,2	K562	blood:
5	chr13:86033358..86036212-chr13:86039864..86042849,2	MCF-7	breast:
6	chr13:86096125..86097964-chr13:86110495..86113341,2	MCF-7	breast:
7	chr13:86012041..86014222-chr13:86015485..86017247,2	K562	blood:
8	chr13:86033358..86036212-chr13:86039864..86042849,2	MCF-7	breast:
9	chr13:86096125..86097964-chr13:86110495..86113341,2	MCF-7	breast:
10	chr13:86099181..86102107-chr13:86106453..86108708,2	MCF-7	breast:
11	chr13:86081905..86084326-chr13:86372446..86374070,2	MCF-7	breast:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK5-11	chr13:86107209-86107338	XLOC_010460
2	lnc-SLITRK5-11	chr13:86116373-86116465	NONHSAT034564
3	lnc-SLITRK5-11	chr13:86107211-86107338	ENSG00000226317.2
4	lnc-SLITRK5-11	chr13:86107211-86107338	NONHSAT034564
5	lnc-SLITRK5-11	chr13:86118511-86118797	NONHSAT034564
6	lnc-SLITRK5-11	chr13:85985736-85986331	XLOC_010460
7	lnc-SLITRK5-11	chr13:86118511-86118705	ENSG00000226317.2
8	lnc-SLITRK5-11	chr13:86118511-86118705	XLOC_010460
9	lnc-SLITRK5-11	chr13:86116373-86116465	ENSG00000226317.2
10	lnc-SLITRK5-11	chr13:86116373-86116465	XLOC_010460
11	lnc-SLITRK5-11	chr13:85982740-85982882	XLOC_010460

No data

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

Extended variants
information (count: 3635 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:3635 , 50 per page) page: 1 2 3 4 5 6 7 ... 73

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7332804	chr13:85947547-85947548	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550643561	chr13:85947562-85947563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7332978	chr13:85947607-85947608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188953186	chr13:85947660-85947661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149620917	chr13:85947673-85947674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543241421	chr13:85947817-85947818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566511186	chr13:85947868-85947869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111535352	chr13:85947898-85947899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534061650	chr13:85947926-85947927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs17363398	chr13:85947959-85947960	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs570996816	chr13:85947980-85947981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs17460926	chr13:85952008-85952009	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs17079748	chr13:85952009-85952010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553302542	chr13:85952089-85952090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs578045466	chr13:85952145-85952146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545467587	chr13:85952170-85952171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563568607	chr13:85952209-85952210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575431059	chr13:85952226-85952227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558153337	chr13:85952311-85952312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs17363608	chr13:85952325-85952326	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs1412025	chr13:85952359-85952360	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs528738282	chr13:85952379-85952380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569033407	chr13:85953408-85953409	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs12875013	chr13:85953431-85953432	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs553856648	chr13:85953437-85953438	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs79122492	chr13:85953442-85953443	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs148273086	chr13:85953465-85953466	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs142885981	chr13:85953513-85953514	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs188144696	chr13:85953542-85953543	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs545043627	chr13:85953570-85953571	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs563239964	chr13:85953571-85953572	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs530655812	chr13:85953582-85953583	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs542722774	chr13:85953585-85953586	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs372612416	chr13:85953632-85953633	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560972662	chr13:85953674-85953675	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528280120	chr13:85953722-85953723	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs9547192	chr13:85953750-85953751	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs563818349	chr13:85953788-85953789	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs373831071	chr13:85953790-85953791	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571523185	chr13:85953807-85953808	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532247465	chr13:85953826-85953827	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562049402	chr13:85953832-85953833	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192671088	chr13:85953922-85953923	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs77468872	chr13:85953952-85953953	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7990067	chr13:85953964-85953965	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547579933	chr13:85953982-85953983	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559545690	chr13:85953990-85953991	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147415493	chr13:85954068-85954069	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs117297485	chr13:85954074-85954075	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs7990259	chr13:85954085-85954086	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:93)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:349 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:85945000-85948000	Enhancers	HepG2	liver
2	chr13:85952000-85952400	Enhancers	NHEK	skin
3	chr13:85953400-85953800	Active TSS	A549	lung
4	chr13:85953400-85953800	Enhancers	Hela-S3	cervix
5	chr13:85953400-85954200	Enhancers	Stomach Mucosa	stomach
6	chr13:85953600-85953800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr13:85953600-85954000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr13:85953600-85954000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr13:85953600-85954000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr13:85953600-85954000	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr13:85953600-85954000	Active TSS	NHLF	lung
12	chr13:85953600-85954400	Enhancers	Dnd41	blood
13	chr13:85953800-85954000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr13:85953800-85954200	Flanking Active TSS	Hela-S3	cervix
15	chr13:85959200-85959400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr13:85960200-85960400	Enhancers	Primary B cells from cord blood	blood
17	chr13:85960600-85961000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:85960600-85961000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr13:85960600-85961000	Enhancers	Fetal Lung	lung
20	chr13:85960600-85961200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr13:85960600-85961200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr13:85960600-85961200	Enhancers	NH-A	brain
23	chr13:85961000-85961200	Enhancers	Primary B cells from cord blood	blood
24	chr13:85974400-85975400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr13:85975000-85975200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr13:85979200-85979400	Enhancers	Brain Hippocampus Middle	brain
27	chr13:85979400-85979600	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr13:85979400-85979600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr13:85979400-85979800	Flanking Active TSS	Brain Hippocampus Middle	brain
30	chr13:85979600-85979800	Enhancers	Brain Angular Gyrus	brain
31	chr13:85979600-85980000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr13:85979600-85980200	Active TSS	Brain Cingulate Gyrus	brain
33	chr13:85979600-85980800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
34	chr13:85979600-85981200	Active TSS	Brain Anterior Caudate	brain
35	chr13:85979800-85980400	Weak transcription	Brain Angular Gyrus	brain
36	chr13:85979800-85980400	Active TSS	Brain Hippocampus Middle	brain
37	chr13:85979800-85980400	Enhancers	Brain Substantia Nigra	brain
38	chr13:85980000-85980600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr13:85980000-85980600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr13:85980200-85980800	Flanking Active TSS	Brain Cingulate Gyrus	brain
41	chr13:85980400-85980800	Active TSS	Brain Angular Gyrus	brain
42	chr13:85980400-85980800	Flanking Active TSS	Brain Hippocampus Middle	brain
43	chr13:85980400-85980800	Flanking Active TSS	Brain Substantia Nigra	brain
44	chr13:85980400-85981200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr13:85980800-85981200	Active TSS	Brain Cingulate Gyrus	brain
46	chr13:85980800-85981200	Active TSS	Brain Hippocampus Middle	brain
47	chr13:85980800-85981200	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr13:85980800-85981200	Active TSS	Brain Substantia Nigra	brain
49	chr13:85981200-85982200	Weak transcription	Brain Substantia Nigra	brain
50	chr13:85982200-85982400	Enhancers	Brain Substantia Nigra	brain

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