Variant report

Variant	esv2761874
Chromosome Location	chr15:58724371-58730571
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:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:58726222..58728488-chr15:58751000..58752953,2	K562	blood:
2	chr15:58728810..58730578-chr15:58760180..58761799,2	MCF-7	breast:
3	chr15:58729567..58734283-chr15:58741092..58746394,5	K562	blood:
4	chr15:58726654..58728474-chr15:58730449..58733344,2	MCF-7	breast:
5	chr15:58726654..58728474-chr15:58730449..58733344,2	MCF-7	breast:
6	chr15:58623609..58625282-chr15:58727962..58730632,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ALDH1A2-1	chr15:58727089-58729111	ENSG00000259293.1
2	lnc-AQP9-5	chr15:58724192-58724562	NONHSAT044110

No data

Variant related genes	Relation type
ENSG00000128918	chromatin interactions

Extended variants
information (count: 292 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:292 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8192701	chr15:58724371-58724372	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs149520038	chr15:58724372-58724373	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
3	rs11631342	chr15:58724383-58724384	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs550891944	chr15:58724393-58724394	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
5	rs34791191	chr15:58724406-58724407	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
6	rs575302079	chr15:58724414-58724415	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
7	rs533395368	chr15:58724416-58724417	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
8	rs144054679	chr15:58724419-58724420	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
9	rs113689788	chr15:58724430-58724431	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
10	rs535590786	chr15:58724445-58724446	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
11	rs545401813	chr15:58724451-58724452	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
12	rs569183372	chr15:58724460-58724461	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
13	rs538126164	chr15:58724464-58724465	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
14	rs558127333	chr15:58724465-58724466	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
15	rs148239279	chr15:58724474-58724475	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
16	rs529666408	chr15:58724475-58724476	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
17	rs371625899	chr15:58724481-58724482	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
18	rs113234775	chr15:58724496-58724497	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
19	rs189044254	chr15:58724519-58724520	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
20	rs6494005	chr15:58724524-58724525	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs542380534	chr15:58724533-58724534	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
22	rs562483146	chr15:58724552-58724553	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
23	rs575987995	chr15:58724553-58724554	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
24	rs150787575	chr15:58724555-58724556	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
25	rs564392195	chr15:58724569-58724570	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs369341836	chr15:58724578-58724579	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs415208	chr15:58724609-58724610	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs181829770	chr15:58724611-58724612	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs539631025	chr15:58724616-58724617	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs529364206	chr15:58724620-58724621	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs186313102	chr15:58724626-58724627	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs546284164	chr15:58724627-58724628	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs190913367	chr15:58724703-58724704	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs78895804	chr15:58724705-58724706	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs11632618	chr15:58724706-58724707	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs8034802	chr15:58724792-58724793	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
37	rs201989645	chr15:58724840-58724841	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs8033940	chr15:58724842-58724843	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs373895466	chr15:58724860-58724861	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs112539397	chr15:58724861-58724862	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs145347914	chr15:58724950-58724951	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs182578040	chr15:58724986-58724987	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs546445539	chr15:58724987-58724988	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs116947926	chr15:58724997-58724998	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs568781759	chr15:58725041-58725042	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs71116563	chr15:58725043-58725044	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs544561655	chr15:58725071-58725072	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs557822858	chr15:58725127-58725128	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs147279786	chr15:58725128-58725129	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs540550753	chr15:58725207-58725208	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:205 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58704600-58728800	Weak transcription	Thymus	Thymus
2	chr15:58716600-58725800	Weak transcription	Right Atrium	heart
3	chr15:58716600-58726600	Weak transcription	Esophagus	oesophagus
4	chr15:58717800-58724400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr15:58718000-58724600	Weak transcription	NHDF-Ad	bronchial
6	chr15:58718400-58726600	Weak transcription	Stomach Mucosa	stomach
7	chr15:58718600-58725000	Weak transcription	Fetal Lung	lung
8	chr15:58719600-58725800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr15:58722000-58724400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr15:58722600-58731000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr15:58723400-58724400	Enhancers	Fetal Kidney	kidney
12	chr15:58723600-58724400	Enhancers	Fetal Thymus	thymus
13	chr15:58723600-58724600	Enhancers	Duodenum Mucosa	Duodenum
14	chr15:58723600-58725000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr15:58723600-58725000	Enhancers	Fetal Intestine Large	intestine
16	chr15:58723800-58724400	Enhancers	Fetal Intestine Small	intestine
17	chr15:58723800-58724400	Weak transcription	K562	blood
18	chr15:58724000-58724400	Flanking Active TSS	Liver	Liver
19	chr15:58724000-58724400	Active TSS	HepG2	liver
20	chr15:58724000-58725800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr15:58724000-58725800	Weak transcription	Pancreas	Pancrea
22	chr15:58724200-58724400	Enhancers	Right Ventricle	heart
23	chr15:58724200-58724400	Flanking Active TSS	A549	lung
24	chr15:58724200-58724600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr15:58724200-58724800	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr15:58724200-58724800	Enhancers	Psoas Muscle	Psoas
27	chr15:58724200-58724800	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr15:58724200-58724800	Enhancers	NHEK	skin
29	chr15:58724200-58725000	Flanking Active TSS	Hela-S3	cervix
30	chr15:58724200-58726400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr15:58724200-58727000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr15:58724200-58727200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr15:58724400-58724600	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr15:58724400-58724600	Enhancers	Placenta	Placenta
35	chr15:58724400-58724600	Enhancers	A549	lung
36	chr15:58724400-58724600	Flanking Active TSS	HepG2	liver
37	chr15:58724400-58725000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr15:58724400-58725000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr15:58724400-58725000	Flanking Active TSS	Fetal Kidney	kidney
40	chr15:58724400-58725000	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr15:58724400-58725000	Enhancers	K562	blood
42	chr15:58724400-58725400	Active TSS	Liver	Liver
43	chr15:58724400-58725600	Weak transcription	Fetal Intestine Small	intestine
44	chr15:58724400-58725600	Weak transcription	Right Ventricle	heart
45	chr15:58724400-58726200	Weak transcription	Fetal Thymus	thymus
46	chr15:58724400-58726600	Enhancers	Adipose Nuclei	Adipose
47	chr15:58724400-58726800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr15:58724400-58726800	Enhancers	HSMMtube	muscle
49	chr15:58724600-58724800	Flanking Active TSS	A549	lung
50	chr15:58724600-58724800	Active TSS	HepG2	liver

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