Variant report

Variant	esv2760934
Chromosome Location	chr5:116261466-116280605
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:116274317..116277091-chr5:116277592..116280132,2	MCF-7	breast:
2	chr5:116274317..116277091-chr5:116277592..116280132,2	MCF-7	breast:

Extended variants
information (count: 618 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:618 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs779140	chr5:116261466-116261467	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565476587	chr5:116261473-116261474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139166782	chr5:116261475-116261476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189894794	chr5:116261496-116261497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181167033	chr5:116261510-116261511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185288473	chr5:116261539-116261540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149923013	chr5:116261578-116261579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570064728	chr5:116261579-116261580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539079236	chr5:116261609-116261610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35582076	chr5:116261672-116261673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs3984962	chr5:116261673-116261674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs397883021	chr5:116261674-116261675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2416450	chr5:116261687-116261688	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs116320626	chr5:116261757-116261758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567466697	chr5:116261795-116261796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73782967	chr5:116263019-116263020	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs114536862	chr5:116263047-116263048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183384241	chr5:116263093-116263094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529922319	chr5:116263152-116263153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549677860	chr5:116263175-116263176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79677404	chr5:116263187-116263188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78931579	chr5:116263188-116263189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77487540	chr5:116266057-116266058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116000117	chr5:116266078-116266079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577193840	chr5:116266094-116266095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79172384	chr5:116266122-116266123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560009048	chr5:116266161-116266162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150572831	chr5:116266163-116266164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572687587	chr5:116266173-116266174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536607971	chr5:116266175-116266176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114310450	chr5:116266179-116266180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs66940115	chr5:116266188-116266189	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs140501480	chr5:116266212-116266213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552088855	chr5:116266217-116266218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571696594	chr5:116266219-116266220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534207313	chr5:116266221-116266222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113828717	chr5:116266250-116266251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs66546211	chr5:116266296-116266297	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs113576994	chr5:116266315-116266316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555312687	chr5:116266349-116266350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568694381	chr5:116266442-116266443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373567412	chr5:116266469-116266470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs537775591	chr5:116266470-116266471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs557649333	chr5:116266478-116266479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577478032	chr5:116266516-116266517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145477745	chr5:116266519-116266520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553684393	chr5:116266527-116266528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573703770	chr5:116266534-116266535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542699454	chr5:116266541-116266542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs4920941	chr5:116266584-116266585	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:70)

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
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
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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD

Chromatin state (count:156 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116259400-116261800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:116263000-116263200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:116266000-116266200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:116266000-116268400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:116266400-116268000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:116267400-116269000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:116268000-116269800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:116268400-116274000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:116269000-116274000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:116269600-116269800	Enhancers	Fetal Muscle Leg	muscle
11	chr5:116269800-116271000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:116270200-116271400	Weak transcription	Fetal Muscle Leg	muscle
13	chr5:116271400-116271800	Enhancers	Fetal Muscle Leg	muscle
14	chr5:116271400-116273600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr5:116271800-116274200	Weak transcription	Fetal Muscle Leg	muscle
16	chr5:116272400-116272600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr5:116272600-116272800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:116272600-116273400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr5:116272600-116275600	Enhancers	Right Ventricle	heart
20	chr5:116272800-116273000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:116272800-116273000	Enhancers	H9 Cell Line	embryonic stem cell
22	chr5:116272800-116275600	Enhancers	Left Ventricle	heart
23	chr5:116273000-116276800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:116273000-116276800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr5:116273400-116274600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr5:116273400-116275600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:116273600-116274000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr5:116273600-116274000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr5:116273600-116274200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr5:116273600-116274400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr5:116273600-116274400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr5:116273800-116277400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr5:116274000-116274200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr5:116274000-116274200	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr5:116274000-116275000	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr5:116274000-116275000	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr5:116274000-116275200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:116274000-116275200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:116274000-116275200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:116274000-116275200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr5:116274000-116275200	Enhancers	Brain Substantia Nigra	brain
42	chr5:116274000-116275200	Enhancers	HSMMtube	muscle
43	chr5:116274000-116275600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:116274000-116276200	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr5:116274000-116276800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr5:116274200-116274400	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr5:116274200-116274600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:116274200-116274600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr5:116274200-116274600	Enhancers	Fetal Stomach	stomach
50	chr5:116274200-116274800	Enhancers	Fetal Lung	lung

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