Variant report

Variant	nsv878611
Chromosome Location	chr4:8512889-8534283
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:21)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:8515635..8517907-chr4:8527045..8528914,2	K562	blood:
2	chr4:8519832..8523485-chr4:8533626..8535724,3	MCF-7	breast:
3	chr4:8460137..8461781-chr4:8510827..8513622,2	K562	blood:
4	chr4:8500815..8505571-chr4:8524859..8530536,4	MCF-7	breast:
5	chr4:8524960..8526616-chr4:8530658..8533337,2	K562	blood:
6	chr4:8463804..8466196-chr4:8524199..8526548,2	MCF-7	breast:
7	chr4:8531043..8532660-chr4:8536787..8539068,2	K562	blood:
8	chr4:8499557..8501918-chr4:8533819..8536050,2	MCF-7	breast:
9	chr4:8525437..8527279-chr4:8549040..8551142,2	MCF-7	breast:
10	chr4:8519832..8523485-chr4:8533626..8535724,3	MCF-7	breast:
11	chr4:8510207..8512745-chr4:8513756..8515974,2	MCF-7	breast:
12	chr4:8515635..8517907-chr4:8527045..8528914,2	K562	blood:
13	chr4:8506510..8509448-chr4:8521354..8523887,2	K562	blood:
14	chr4:8527972..8528890-chr4:8587077..8587591,2	MCF-7	breast:
15	chr4:8527606..8529161-chr4:8536192..8537693,2	MCF-7	breast:
16	chr4:8524960..8526616-chr4:8530658..8533337,2	K562	blood:
17	chr4:8514998..8517976-chr4:8524546..8527313,2	MCF-7	breast:
18	chr4:8521151..8523574-chr4:8535830..8537925,2	MCF-7	breast:
19	chr4:8480343..8482118-chr4:8533933..8535799,2	MCF-7	breast:
20	chr4:8534257..8535987-chr4:8582200..8584204,2	MCF-7	breast:
21	chr4:8514998..8517976-chr4:8524546..8527313,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-METTL19-1	chr4:8517039-8517061	NONHSAT095107
2	lnc-METTL19-1	chr4:8513558-8514337	ENSG00000205959.3

No data

Variant related genes	Relation type
ENSG00000155269	chromatin interactions
ENSG00000205959	chromatin interactions

Extended variants
information (count: 970 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:970 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3115397	chr4:8512889-8512890	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs539919818	chr4:8512890-8512891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558334383	chr4:8512939-8512940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs17203215	chr4:8512944-8512945	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs534621258	chr4:8512954-8512955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139158118	chr4:8512955-8512956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574659760	chr4:8512970-8512971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556751441	chr4:8512995-8512996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188093763	chr4:8513005-8513006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549144089	chr4:8513052-8513053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556913670	chr4:8513054-8513055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575247247	chr4:8513060-8513061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545870802	chr4:8513070-8513071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111706168	chr4:8513073-8513074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528667276	chr4:8513107-8513108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540810026	chr4:8513110-8513111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562282154	chr4:8513120-8513121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141399159	chr4:8513184-8513185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550744687	chr4:8513188-8513189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569188093	chr4:8513210-8513211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533262782	chr4:8513234-8513235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531372611	chr4:8513250-8513251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570335775	chr4:8513258-8513259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150832286	chr4:8513275-8513276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552738243	chr4:8513276-8513277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568307588	chr4:8513297-8513298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191345360	chr4:8513301-8513302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549528911	chr4:8513369-8513370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575142552	chr4:8513378-8513379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs3115398	chr4:8513416-8513417	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs369955345	chr4:8513421-8513422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576749913	chr4:8513451-8513452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111403567	chr4:8513452-8513453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572960306	chr4:8513470-8513471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540869680	chr4:8513515-8513516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6823600	chr4:8513537-8513538	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs529566270	chr4:8513540-8513541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112802793	chr4:8513543-8513544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369573788	chr4:8513545-8513546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547149166	chr4:8513571-8513572	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs184601998	chr4:8513573-8513574	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs189342118	chr4:8513581-8513582	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs181639711	chr4:8513635-8513636	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs373337883	chr4:8513660-8513661	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs527774904	chr4:8513664-8513665	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs186725345	chr4:8513688-8513689	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs62287439	chr4:8513691-8513692	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs149651429	chr4:8513705-8513706	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs146122491	chr4:8513707-8513708	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs569149786	chr4:8513750-8513751	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Melanoma	20688739	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:175 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8509000-8519200	Weak transcription	Brain Germinal Matrix	brain
2	chr4:8509200-8513200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr4:8509400-8513200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr4:8509400-8514000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr4:8509400-8517200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr4:8509600-8514200	Weak transcription	HSMMtube	muscle
7	chr4:8509600-8515200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr4:8509600-8515600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:8510000-8515600	Weak transcription	NHDF-Ad	bronchial
10	chr4:8511800-8517800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:8512200-8519200	Weak transcription	Spleen	Spleen
12	chr4:8512800-8514600	Weak transcription	Placenta	Placenta
13	chr4:8512800-8517200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:8514200-8514400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr4:8514200-8520200	Enhancers	HSMMtube	muscle
16	chr4:8514600-8516400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr4:8514600-8520000	Enhancers	Placenta	Placenta
18	chr4:8515600-8516000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:8515600-8520400	Enhancers	NHDF-Ad	bronchial
20	chr4:8516000-8517200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:8516200-8517400	Enhancers	HSMM	muscle
22	chr4:8516400-8518800	Enhancers	Fetal Muscle Trunk	muscle
23	chr4:8516400-8520200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr4:8516600-8516800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:8516600-8520200	Enhancers	Fetal Muscle Leg	muscle
26	chr4:8516800-8517200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:8516800-8517800	Enhancers	Osteobl	bone
28	chr4:8516800-8518200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:8516800-8520000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:8517000-8519000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:8517200-8517400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:8517200-8517400	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr4:8517200-8518000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:8517200-8518200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr4:8517400-8517600	Flanking Active TSS	HSMM	muscle
36	chr4:8517400-8517800	Enhancers	Adipose Nuclei	Adipose
37	chr4:8517400-8518000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr4:8517400-8520000	Enhancers	NHLF	lung
39	chr4:8517600-8517800	Enhancers	HSMM	muscle
40	chr4:8517800-8518000	Flanking Active TSS	HSMM	muscle
41	chr4:8517800-8518200	Weak transcription	Osteobl	bone
42	chr4:8517800-8518600	Weak transcription	Adipose Nuclei	Adipose
43	chr4:8517800-8519800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr4:8517800-8520200	Enhancers	Ovary	ovary
45	chr4:8518000-8518200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr4:8518000-8519800	Enhancers	HSMM	muscle
47	chr4:8518200-8519200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr4:8518200-8519400	Enhancers	Osteobl	bone
49	chr4:8518400-8519400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr4:8518400-8519600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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