Variant report

Variant	esv3438002
Chromosome Location	chr15:45751960-45758158
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:3)
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	chr15:45751814..45754507-chr15:45754851..45757690,2	MCF-7	breast:
2	chr15:45751428..45753580-chr15:45925996..45928453,2	MCF-7	breast:
3	chr15:45755369..45757808-chr15:45760218..45761718,2	MCF-7	breast:
4	chr15:45755098..45758040-chr15:45759580..45761169,2	K562	blood:
5	chr15:45750236..45753171-chr15:45878645..45880450,2	MCF-7	breast:
6	chr15:45751814..45754507-chr15:45754851..45757690,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C15orf48-1	chr15:45752644-45753154	ENSG00000259354.1
2	lnc-C15orf48-1	chr15:45753477-45753588	ENSG00000259354.1
3	lnc-C15orf48-1	chr15:45752644-45752767	ENSG00000259354.1

No data

Variant related genes	Relation type
ENSG00000104164	chromatin interactions
ENSG00000260170	chromatin interactions
ENSG00000137767	chromatin interactions

Extended variants
information (count: 248 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:248 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183345882	chr15:45751985-45751986	Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs374447713	chr15:45752012-45752013	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs543835631	chr15:45752014-45752015	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs559720558	chr15:45752015-45752016	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs376811547	chr15:45752029-45752030	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs187637425	chr15:45752033-45752034	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs142708594	chr15:45752124-45752125	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs527775293	chr15:45752135-45752136	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs115794689	chr15:45752165-45752166	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs564098583	chr15:45752175-45752176	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs533378697	chr15:45752216-45752217	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs549780585	chr15:45752258-45752259	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs192864362	chr15:45752383-45752384	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs184975785	chr15:45752437-45752438	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs187851830	chr15:45752487-45752488	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs192734789	chr15:45752549-45752550	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs534661258	chr15:45752581-45752582	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs562509339	chr15:45752584-45752585	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs75212724	chr15:45752596-45752597	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs183467180	chr15:45752649-45752650	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
21	rs551695318	chr15:45752657-45752658	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
22	rs2453524	chr15:45752658-45752659	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs571361173	chr15:45752681-45752682	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
24	rs371936220	chr15:45752699-45752700	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
25	rs556700251	chr15:45752716-45752717	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
26	rs576636984	chr15:45752776-45752777	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
27	rs370531521	chr15:45752781-45752782	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
28	rs560477828	chr15:45752834-45752835	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
29	rs188139786	chr15:45752844-45752845	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
30	rs542121130	chr15:45752848-45752849	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
31	rs555539119	chr15:45752868-45752869	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
32	rs527464774	chr15:45752869-45752870	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
33	rs541110371	chr15:45752884-45752885	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
34	rs73412484	chr15:45752892-45752893	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs73412487	chr15:45752904-45752905	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
36	rs543764239	chr15:45752925-45752926	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
37	rs386783634	chr15:45752975-45752976	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
38	rs77869687	chr15:45752976-45752977	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	mRNA abundance
39	rs565868601	chr15:45753025-45753026	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
40	rs151297509	chr15:45753158-45753159	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs551626569	chr15:45753212-45753213	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs16943731	chr15:45753216-45753217	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs536758448	chr15:45753243-45753244	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs556870740	chr15:45753271-45753272	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs75055864	chr15:45753346-45753347	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs535738773	chr15:45753348-45753349	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs73412488	chr15:45753377-45753378	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs572284003	chr15:45753414-45753415	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs541197671	chr15:45753419-45753420	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs139375340	chr15:45753483-45753484	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Melanoma	17363583	CNVD
Acute myeloid leukemia	19651601	CNVD
Marfan syndrome	17492313	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45749200-45753200	Weak transcription	Gastric	stomach
2	chr15:45749400-45753200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:45749400-45753200	Weak transcription	Esophagus	oesophagus
4	chr15:45749400-45753200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr15:45749800-45753800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:45750600-45753200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr15:45750600-45753600	Weak transcription	Pancreas	Pancrea
8	chr15:45750800-45781000	Weak transcription	Stomach Mucosa	stomach
9	chr15:45751200-45753200	Weak transcription	Colonic Mucosa	Colon
10	chr15:45751200-45753200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr15:45751200-45760000	Weak transcription	Fetal Stomach	stomach
12	chr15:45751200-45761200	Weak transcription	Fetal Intestine Small	intestine
13	chr15:45751200-45801600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr15:45751400-45753600	Weak transcription	Fetal Kidney	kidney
15	chr15:45751600-45752800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr15:45751600-45753400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr15:45751600-45753600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr15:45751800-45752000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
19	chr15:45752800-45754200	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr15:45753200-45753400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:45753200-45754200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr15:45753200-45754200	Strong transcription	Colonic Mucosa	Colon
23	chr15:45753200-45754200	ZNF genes & repeats	Esophagus	oesophagus
24	chr15:45753200-45754200	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr15:45753200-45754400	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr15:45753200-45757000	Strong transcription	Gastric	stomach
27	chr15:45753400-45756400	Strong transcription	Duodenum Mucosa	Duodenum
28	chr15:45753600-45753800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
29	chr15:45753600-45754000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
30	chr15:45753600-45754200	ZNF genes & repeats	Fetal Kidney	kidney
31	chr15:45753600-45754400	Genic enhancers	Pancreas	Pancrea
32	chr15:45753800-45754200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr15:45753800-45754400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
34	chr15:45754000-45754400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
35	chr15:45754200-45755800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr15:45754200-45756000	Weak transcription	Colonic Mucosa	Colon
37	chr15:45754200-45756200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr15:45754200-45756600	Weak transcription	Esophagus	oesophagus
39	chr15:45754200-45801600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr15:45754400-45755000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr15:45754400-45755200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr15:45754400-45756600	Weak transcription	Pancreas	Pancrea
43	chr15:45755000-45756200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
44	chr15:45755200-45755400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
45	chr15:45755200-45756800	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr15:45755400-45755800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
47	chr15:45755800-45756200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
48	chr15:45755800-45757400	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr15:45756000-45757000	Strong transcription	Colonic Mucosa	Colon
50	chr15:45756200-45757000	Strong transcription	Rectal Mucosa Donor 29	rectum

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