Variant report

Variant	esv16820
Chromosome Location	chr5:147320290-147337996
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:2)
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	chr5:147328119..147330399-chr5:147762269..147764707,2	K562	blood:
2	chr5:147329026..147330064-chr5:147486820..147487860,8	MCF-7	breast:
3	chr5:147329190..147329931-chr5:147500361..147500913,2	MCF-7	breast:
4	chr5:147329083..147330043-chr5:147486700..147488028,4	MCF-7	breast:
5	chr5:147328475..147330647-chr5:147503680..147505781,2	K562	blood:
6	chr5:147328971..147329733-chr5:148336729..148337377,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPINK5-1	chr5:147329199-147329413	NONHSAT104436
2	lnc-SPINK5-1	chr5:147328351-147328467	NONHSAT104436

No data

Variant related genes	Relation type
ENSG00000247199	chromatin interactions
ENSG00000145868	chromatin interactions

Extended variants
information (count: 507 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:507 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6873966	chr5:147326201-147326202	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs374533997	chr5:147326216-147326217	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs6892407	chr5:147326217-147326218	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs535820823	chr5:147326218-147326219	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs182607673	chr5:147326236-147326237	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs201560955	chr5:147326243-147326244	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs71586431	chr5:147326244-147326245	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs565827527	chr5:147326246-147326247	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs561434458	chr5:147326248-147326249	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs12519391	chr5:147326255-147326256	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs374182752	chr5:147326257-147326258	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs12516761	chr5:147326276-147326277	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs557839228	chr5:147326279-147326280	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs12521693	chr5:147326283-147326284	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs187288807	chr5:147326291-147326292	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs71504317	chr5:147326295-147326296	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs77963284	chr5:147326298-147326299	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs80181754	chr5:147326300-147326301	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs71504318	chr5:147326309-147326310	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs76669803	chr5:147326323-147326324	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs543675841	chr5:147326332-147326333	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs2080963	chr5:147326341-147326342	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs550517353	chr5:147326347-147326348	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs139506250	chr5:147326349-147326350	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs560234381	chr5:147326364-147326365	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs527289599	chr5:147326373-147326374	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs190342539	chr5:147326374-147326375	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs545876676	chr5:147326380-147326381	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs80183756	chr5:147326384-147326385	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs376681004	chr5:147326394-147326395	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs531507085	chr5:147326396-147326397	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs78620345	chr5:147326407-147326408	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs549739756	chr5:147326427-147326428	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs62115866	chr5:147326437-147326438	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs182440942	chr5:147326446-147326447	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs2080962	chr5:147326447-147326448	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs74748932	chr5:147326451-147326452	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs565696731	chr5:147326471-147326472	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs539462712	chr5:147326477-147326478	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs557800562	chr5:147326503-147326504	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs35812321	chr5:147326521-147326522	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs193011342	chr5:147326531-147326532	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs111365542	chr5:147326542-147326543	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs2098648	chr5:147326546-147326547	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs534957107	chr5:147326549-147326550	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs553715448	chr5:147326550-147326551	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs572039032	chr5:147326559-147326560	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs545838126	chr5:147326564-147326565	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs187340833	chr5:147326569-147326570	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs576091876	chr5:147326573-147326574	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	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
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Hyperekplexia	16941485	CNVD
Myelofibrosis	22110671	CNVD
Crohn''s disease	20877625	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147326200-147326600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:147326200-147326600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:147326200-147326600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:147326200-147326600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:147326200-147326800	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr5:147326200-147326800	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr5:147326200-147326800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:147326200-147326800	Active TSS	Placenta	Placenta
9	chr5:147326200-147327000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:147326200-147327200	Active TSS	H9 Cell Line	embryonic stem cell
11	chr5:147326200-147327200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:147326200-147327200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:147326200-147327200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:147326200-147327400	Active TSS	H1 Cell Line	embryonic stem cell
15	chr5:147326200-147327400	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr5:147326200-147327600	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr5:147326200-147327600	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr5:147326200-147327600	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr5:147326200-147328400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:147326200-147328400	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr5:147326400-147327200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:147326400-147327200	Active TSS	K562	blood
23	chr5:147326400-147327400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:147326400-147327600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr5:147326600-147345200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:147326800-147327400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
27	chr5:147326800-147327400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
28	chr5:147327000-147343200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr5:147327200-147328000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:147327200-147343400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr5:147327400-147329000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr5:147327400-147335400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr5:147327400-147335400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr5:147327600-147329800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr5:147327600-147335200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr5:147328000-147328400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr5:147328400-147334800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr5:147328400-147337600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:147328400-147343400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:147329000-147329400	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr5:147329000-147330200	Enhancers	Hela-S3	cervix
42	chr5:147329200-147330000	Enhancers	Stomach Mucosa	stomach
43	chr5:147329800-147330200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr5:147329800-147331800	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr5:147330200-147335400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr5:147330200-147335600	Weak transcription	Hela-S3	cervix
47	chr5:147331800-147343000	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr5:147334800-147335800	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr5:147335200-147335800	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr5:147335200-147336000	Enhancers	NHEK	skin

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