Variant report

Variant	esv2515116
Chromosome Location	chr5:94617264-94618669
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569599641	chr5:94617276-94617277	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs556350448	chr5:94617284-94617285	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs148890369	chr5:94617293-94617294	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs190735020	chr5:94617337-94617338	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs551840851	chr5:94617344-94617345	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs565447087	chr5:94617380-94617381	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs143626719	chr5:94617392-94617393	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs547612125	chr5:94617394-94617395	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs181981464	chr5:94617398-94617399	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs147612048	chr5:94617421-94617422	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs556811678	chr5:94617450-94617451	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs570205798	chr5:94617453-94617454	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs371084870	chr5:94617513-94617514	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs78711348	chr5:94617521-94617522	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs558954491	chr5:94617644-94617645	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs572590447	chr5:94617656-94617657	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs550505054	chr5:94617685-94617686	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs548692588	chr5:94617706-94617707	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs59010310	chr5:94617750-94617751	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs187455400	chr5:94617751-94617752	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs373268663	chr5:94617782-94617783	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs543400976	chr5:94617790-94617791	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs190617518	chr5:94617869-94617870	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs532267229	chr5:94617891-94617892	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs545411636	chr5:94617903-94617904	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs207466248	chr5:94617913-94617914	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs35551096	chr5:94617935-94617936	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs113359516	chr5:94617964-94617965	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs182857939	chr5:94618049-94618050	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs146505305	chr5:94618053-94618054	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs370526134	chr5:94618157-94618158	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs547871291	chr5:94618180-94618181	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs561192465	chr5:94618181-94618182	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs530317465	chr5:94618188-94618189	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs550064676	chr5:94618190-94618191	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs570341593	chr5:94618193-94618194	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs576184398	chr5:94618415-94618416	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs139112444	chr5:94618426-94618427	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs535167957	chr5:94618469-94618470	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs140307260	chr5:94618529-94618530	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs78512610	chr5:94618540-94618541	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs555099851	chr5:94618594-94618595	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs539784491	chr5:94618618-94618619	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs114918664	chr5:94618657-94618658	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94615800-94618800	Active TSS	Fetal Brain Female	brain
2	chr5:94616200-94617600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr5:94616200-94617600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr5:94616200-94617800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr5:94616200-94619000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:94616400-94617400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr5:94616600-94617400	Enhancers	HMEC	breast
8	chr5:94616600-94617800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr5:94616800-94617400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:94616800-94617800	Bivalent Enhancer	Fetal Brain Male	brain
11	chr5:94616800-94619000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:94617000-94617800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr5:94617000-94618800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr5:94617200-94617400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr5:94617200-94617600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr5:94617200-94617800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
17	chr5:94617400-94617800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
18	chr5:94617400-94618800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr5:94617400-94619000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:94617600-94617800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr5:94617600-94617800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
22	chr5:94617800-94618800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr5:94617800-94618800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr5:94617800-94618800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
25	chr5:94618200-94619000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:94618400-94618800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
27	chr5:94618400-94620000	Enhancers	Fetal Brain Male	brain
28	chr5:94618400-94621200	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr5:94618600-94618800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
30	chr5:94618600-94618800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
31	chr5:94618600-94621600	Active TSS	Brain Angular Gyrus	brain

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