Variant report

Variant	esv3692876
Chromosome Location	chr5:147326902-147337164
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	chr5:147329026..147330064-chr5:147486820..147487860,8	MCF-7	breast:
2	chr5:147328971..147329733-chr5:148336729..148337377,2	K562	blood:
3	chr5:147329190..147329931-chr5:147500361..147500913,2	MCF-7	breast:
4	chr5:147328119..147330399-chr5:147762269..147764707,2	K562	blood:
5	chr5:147328475..147330647-chr5:147503680..147505781,2	K562	blood:
6	chr5:147329083..147330043-chr5:147486700..147488028,4	MCF-7	breast:

(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: 406 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:406 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13361066	chr5:147326902-147326903	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs142116795	chr5:147327005-147327006	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs537017889	chr5:147327018-147327019	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs116076649	chr5:147327024-147327025	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs556851945	chr5:147327031-147327032	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs576710175	chr5:147327038-147327039	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs112090026	chr5:147327046-147327047	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs145863944	chr5:147327047-147327048	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs552882747	chr5:147327053-147327054	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs6867691	chr5:147327091-147327092	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs138689033	chr5:147327110-147327111	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs141102823	chr5:147327122-147327123	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs533095624	chr5:147327186-147327187	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs188409981	chr5:147327198-147327199	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs6867877	chr5:147327214-147327215	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs147119962	chr5:147327296-147327297	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs10038786	chr5:147327342-147327343	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs138309317	chr5:147327463-147327464	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534886437	chr5:147327536-147327537	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181401464	chr5:147327562-147327563	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199870545	chr5:147327585-147327586	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551517304	chr5:147327588-147327589	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369079392	chr5:147327623-147327624	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs34927772	chr5:147327629-147327630	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs397882110	chr5:147327647-147327648	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs184119337	chr5:147327653-147327654	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs149617441	chr5:147327660-147327661	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs189637083	chr5:147327664-147327665	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs111484944	chr5:147327741-147327742	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs58513391	chr5:147327744-147327745	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs199551336	chr5:147327746-147327747	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs397710352	chr5:147327749-147327750	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs569511266	chr5:147327786-147327787	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs537071951	chr5:147327824-147327825	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs555147739	chr5:147327826-147327827	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs113378783	chr5:147327834-147327835	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs540816015	chr5:147327835-147327836	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs370158458	chr5:147327857-147327858	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs564002811	chr5:147327899-147327900	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs577417614	chr5:147327920-147327921	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs10035454	chr5:147327923-147327924	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs552842179	chr5:147327956-147327957	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs73267112	chr5:147327962-147327963	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs376467398	chr5:147328001-147328002	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530786521	chr5:147328020-147328021	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550101731	chr5:147328039-147328040	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs371015238	chr5:147328180-147328181	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs182051413	chr5:147328181-147328182	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs561212373	chr5:147328226-147328227	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs186534884	chr5:147328246-147328247	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147326200-147327000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:147326200-147327200	Active TSS	H9 Cell Line	embryonic stem cell
3	chr5:147326200-147327200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:147326200-147327200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:147326200-147327200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:147326200-147327400	Active TSS	H1 Cell Line	embryonic stem cell
7	chr5:147326200-147327400	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr5:147326200-147327600	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr5:147326200-147327600	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr5:147326200-147327600	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr5:147326200-147328400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:147326200-147328400	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr5:147326400-147327200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:147326400-147327200	Active TSS	K562	blood
15	chr5:147326400-147327400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:147326400-147327600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr5:147326600-147345200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:147326800-147327400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
19	chr5:147326800-147327400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
20	chr5:147327000-147343200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr5:147327200-147328000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:147327200-147343400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr5:147327400-147329000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr5:147327400-147335400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr5:147327400-147335400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr5:147327600-147329800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr5:147327600-147335200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr5:147328000-147328400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:147328400-147334800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr5:147328400-147337600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:147328400-147343400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:147329000-147329400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr5:147329000-147330200	Enhancers	Hela-S3	cervix
34	chr5:147329200-147330000	Enhancers	Stomach Mucosa	stomach
35	chr5:147329800-147330200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr5:147329800-147331800	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr5:147330200-147335400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr5:147330200-147335600	Weak transcription	Hela-S3	cervix
39	chr5:147331800-147343000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr5:147334800-147335800	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr5:147335200-147335800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr5:147335200-147336000	Enhancers	NHEK	skin
43	chr5:147335200-147336200	Enhancers	HMEC	breast
44	chr5:147335200-147338000	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr5:147335400-147335600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr5:147335400-147336200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr5:147335400-147336200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr5:147335400-147336600	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr5:147335400-147336600	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr5:147335400-147337600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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