Variant report

Variant	esv2763480
Chromosome Location	chr5:103985453-104039755
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:0)
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	chr5:103985280..103987996-chr5:104035377..104038063,2	MCF-7	breast:
2	chr5:103985280..103987996-chr5:104035377..104038063,2	MCF-7	breast:
3	chr5:104028054..104030764-chr5:104032138..104034804,2	K562	blood:
4	chr5:103987247..103989988-chr5:103992385..103995079,2	MCF-7	breast:
5	chr5:104033301..104035974-chr5:104038075..104040842,2	MCF-7	breast:
6	chr5:103984998..103987505-chr5:103990796..103992380,2	MCF-7	breast:
7	chr5:103987247..103989988-chr5:103992385..103995079,2	MCF-7	breast:
8	chr5:103761403..103764401-chr5:103998452..104000157,2	MCF-7	breast:
9	chr5:104033301..104035974-chr5:104038075..104040842,2	MCF-7	breast:
10	chr5:103984998..103987505-chr5:103990796..103992380,2	MCF-7	breast:
11	chr5:104028054..104030764-chr5:104032138..104034804,2	K562	blood:

No data

Extended variants
information (count: 671 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:671 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566247685	chr5:103985464-103985465	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536975095	chr5:103985471-103985472	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576282078	chr5:103985482-103985483	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554537494	chr5:103985502-103985503	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78259718	chr5:103985569-103985570	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538720111	chr5:103985603-103985604	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184986762	chr5:103985740-103985741	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148090510	chr5:103985773-103985774	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374062786	chr5:103985775-103985776	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372052112	chr5:103985780-103985781	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140369887	chr5:103985783-103985784	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150376369	chr5:103985793-103985794	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138165339	chr5:103985813-103985814	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375162508	chr5:103985821-103985822	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544749610	chr5:103985917-103985918	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565007649	chr5:103985953-103985954	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs17156788	chr5:103985968-103985969	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs142562849	chr5:103985970-103985971	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561514055	chr5:103985985-103985986	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530410291	chr5:103986022-103986023	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188606683	chr5:103986025-103986026	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191579275	chr5:103986029-103986030	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71588357	chr5:103986069-103986070	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201832414	chr5:103986078-103986079	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369808476	chr5:103986079-103986080	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs70990493	chr5:103986089-103986090	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200623227	chr5:103986090-103986091	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552353077	chr5:103986101-103986102	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372255369	chr5:103986144-103986145	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541791177	chr5:103986175-103986176	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562005372	chr5:103986176-103986177	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144810485	chr5:103986180-103986181	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541218019	chr5:103986195-103986196	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549545865	chr5:103986197-103986198	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376654448	chr5:103986201-103986202	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78247201	chr5:103986216-103986217	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73775484	chr5:103986242-103986243	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183773313	chr5:103986262-103986263	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1120480	chr5:103986282-103986283	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs572161628	chr5:103986297-103986298	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188111489	chr5:103986306-103986307	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149275873	chr5:103986310-103986311	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561429462	chr5:103986336-103986337	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs117841194	chr5:103986354-103986355	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146484477	chr5:103986398-103986399	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78189727	chr5:103986401-103986402	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370730764	chr5:103986403-103986404	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144428176	chr5:103986404-103986405	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115197392	chr5:103986407-103986408	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532726124	chr5:103986411-103986412	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Obesity	20622171	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:103982600-103988000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr5:103985400-103986600	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr5:103985400-103988400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:103985400-103988600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
5	chr5:103985600-103986200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
6	chr5:103985600-103986600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
7	chr5:103985600-103988200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:103985800-103986000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
9	chr5:103985800-103986200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
10	chr5:103986000-103989000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:103986200-103986400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
12	chr5:103986200-103986600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:103986400-103986600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
14	chr5:103986600-103986800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
15	chr5:103987400-103987800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
16	chr5:103987400-103988000	Enhancers	Colon Smooth Muscle	Colon
17	chr5:103987800-103988600	Enhancers	Placenta Amnion	Placenta Amnion
18	chr5:103988000-103988200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
19	chr5:103988000-103988200	Enhancers	Rectal Smooth Muscle	rectum
20	chr5:103988000-103988400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:103988000-103988800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
22	chr5:103988200-103988600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
23	chr5:103988400-103988600	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:103988400-103988600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:103988400-103988600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:103988400-103988600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
27	chr5:103988600-103988800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:103988600-103988800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr5:103988600-103989000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:103988600-103989000	ZNF genes & repeats	Spleen	Spleen
31	chr5:103988600-103990200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr5:103988800-103989000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:103992000-103992200	Enhancers	Rectal Smooth Muscle	rectum
34	chr5:103992200-103995200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr5:103992400-103996400	Weak transcription	Colon Smooth Muscle	Colon
36	chr5:103995200-103996000	Enhancers	Rectal Smooth Muscle	rectum
37	chr5:103995200-103996600	Enhancers	HUVEC	blood vessel
38	chr5:103996000-103997000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr5:103996400-103997800	Enhancers	Colon Smooth Muscle	Colon
40	chr5:103997000-103997200	Enhancers	Rectal Smooth Muscle	rectum
41	chr5:104023800-104024600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:104033800-104035000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr5:104033800-104035200	ZNF genes & repeats	Adipose Nuclei	Adipose
44	chr5:104034000-104035200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
45	chr5:104034200-104035000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr5:104034800-104035200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
47	chr5:104035200-104036000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:104036200-104037000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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