Variant report

Variant	esv3500811
Chromosome Location	chr5:49414412-49435207
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 564 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:564 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369617575	chr5:49414426-49414427	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs372356118	chr5:49414429-49414430	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs138297786	chr5:49414435-49414436	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs376668783	chr5:49414436-49414437	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs369852676	chr5:49414437-49414438	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs373122631	chr5:49414439-49414440	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs373408204	chr5:49414440-49414441	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs377384777	chr5:49414441-49414442	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs369406829	chr5:49414446-49414447	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs373225887	chr5:49414448-49414449	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs142377399	chr5:49414452-49414453	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs371020508	chr5:49414460-49414461	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs28814295	chr5:49414497-49414498	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs151013700	chr5:49414517-49414518	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs56079295	chr5:49414519-49414520	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs28828117	chr5:49414524-49414525	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs376493472	chr5:49414525-49414526	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs139173666	chr5:49414530-49414531	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs61379183	chr5:49414539-49414540	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs61089940	chr5:49414548-49414549	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs373842246	chr5:49414552-49414553	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs28863222	chr5:49414555-49414556	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs199643160	chr5:49414564-49414565	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs200742482	chr5:49414579-49414580	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs143793503	chr5:49414583-49414584	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs139171727	chr5:49414585-49414586	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs144193470	chr5:49414587-49414588	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs201781627	chr5:49414588-49414589	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs56363194	chr5:49414612-49414613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374563309	chr5:49414635-49414636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200085352	chr5:49414637-49414638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28799714	chr5:49414639-49414640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201241459	chr5:49414648-49414649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs202175970	chr5:49414653-49414654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375509694	chr5:49414654-49414655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113336804	chr5:49414655-49414656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112692020	chr5:49414656-49414657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200410274	chr5:49414661-49414662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372740312	chr5:49414663-49414664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376586855	chr5:49414710-49414711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200895010	chr5:49414718-49414719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201527172	chr5:49414726-49414727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368691690	chr5:49414734-49414735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199685193	chr5:49414747-49414748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201866122	chr5:49414775-49414776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369227847	chr5:49414790-49414791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373723816	chr5:49414794-49414795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376198497	chr5:49414805-49414806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371150845	chr5:49414815-49414816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150355214	chr5:49414827-49414828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	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
Hepatocellular carcinoma	16750200	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

Chromatin state (count:262 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49413800-49414600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:49413800-49414600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr5:49413800-49414600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr5:49413800-49414600	ZNF genes & repeats	Brain Hippocampus Middle	brain
5	chr5:49413800-49414600	ZNF genes & repeats	Fetal Heart	heart
6	chr5:49413800-49414600	ZNF genes & repeats	Stomach Mucosa	stomach
7	chr5:49414200-49414600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
8	chr5:49414200-49414600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
9	chr5:49414200-49414600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:49414200-49414600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:49414200-49414600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
12	chr5:49414200-49414600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
13	chr5:49414200-49414600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
14	chr5:49414200-49414600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:49414200-49414600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:49414200-49414600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
17	chr5:49414200-49414600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
18	chr5:49414200-49414600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
19	chr5:49414200-49414600	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
20	chr5:49414200-49414600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr5:49414200-49414600	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
22	chr5:49414200-49414600	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
23	chr5:49414200-49414600	ZNF genes & repeats	Adipose Nuclei	Adipose
24	chr5:49414200-49414600	ZNF genes & repeats	Aorta	Aorta
25	chr5:49414200-49414600	ZNF genes & repeats	Brain Angular Gyrus	brain
26	chr5:49414200-49414600	ZNF genes & repeats	Brain Anterior Caudate	brain
27	chr5:49414200-49414600	ZNF genes & repeats	Brain Cingulate Gyrus	brain
28	chr5:49414200-49414600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
29	chr5:49414200-49414600	ZNF genes & repeats	Brain Substantia Nigra	brain
30	chr5:49414200-49414600	ZNF genes & repeats	Colon Smooth Muscle	Colon
31	chr5:49414200-49414600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
32	chr5:49414200-49414600	ZNF genes & repeats	Fetal Brain Male	brain
33	chr5:49414200-49414600	ZNF genes & repeats	Fetal Kidney	kidney
34	chr5:49414200-49414600	ZNF genes & repeats	Fetal Lung	lung
35	chr5:49414200-49414600	ZNF genes & repeats	Left Ventricle	heart
36	chr5:49414200-49414600	ZNF genes & repeats	Pancreas	Pancrea
37	chr5:49414200-49414600	ZNF genes & repeats	Psoas Muscle	Psoas
38	chr5:49414200-49414600	ZNF genes & repeats	Rectal Smooth Muscle	rectum
39	chr5:49414200-49414600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
40	chr5:49414200-49414600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
41	chr5:49414200-49414600	ZNF genes & repeats	Thymus	Thymus
42	chr5:49414200-49414600	ZNF genes & repeats	Spleen	Spleen
43	chr5:49414200-49414600	ZNF genes & repeats	Dnd41	blood
44	chr5:49414200-49414600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
45	chr5:49414200-49414600	ZNF genes & repeats	NH-A	brain
46	chr5:49414400-49414600	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
47	chr5:49414400-49414600	ZNF genes & repeats	Liver	Liver
48	chr5:49414400-49414600	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
49	chr5:49414400-49414600	ZNF genes & repeats	Fetal Brain Female	brain
50	chr5:49414400-49414600	ZNF genes & repeats	Fetal Muscle Trunk	muscle

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