Variant report

Variant	nsv470721
Chromosome Location	chr1:79835066-79877035
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:4)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:79411840..79414575-chr1:79858123..79860401,2	K562	blood:
2	chr1:79266346..79267150-chr1:79858034..79858765,3	MCF-7	breast:
3	chr1:79860008..79862521-chr1:79862746..79865099,2	MCF-7	breast:
4	chr1:79860008..79862521-chr1:79862746..79865099,2	MCF-7	breast:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IFI44-2	chr1:79869657-79869841	XLOC_000266
2	lnc-IFI44-2	chr1:79871919-79871942	XLOC_000266
3	lnc-IFI44-2	chr1:79869657-79869841	XLOC_000266
4	lnc-IFI44-2	chr1:79868876-79868927	XLOC_000266
5	lnc-IFI44-2	chr1:79871919-79871942	XLOC_000266
6	lnc-IFI44-2	chr1:79869657-79870246	XLOC_000266
7	lnc-IFI44-2	chr1:79869657-79869841	XLOC_000266
8	lnc-IFI44-2	chr1:79869656-79870246	NONHSAT004088
9	lnc-IFI44-2	chr1:79842763-79842816	XLOC_000266
10	lnc-IFI44-2	chr1:79871919-79871942	XLOC_000266

No data

Variant related genes	Relation type
PHF17	miRNA target sites
RELA	miRNA target sites
SH3PXD2A	miRNA target sites
MSN	miRNA target sites

Extended variants
information (count: 461 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:461 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6686663	chr1:79835066-79835067	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548065421	chr1:79835076-79835077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566071991	chr1:79835084-79835085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533333088	chr1:79835093-79835094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190533786	chr1:79835133-79835134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142882682	chr1:79835162-79835163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6661647	chr1:79835171-79835172	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs537165602	chr1:79835178-79835179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150767291	chr1:79835184-79835185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs180814456	chr1:79835204-79835205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534758424	chr1:79835232-79835233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553226733	chr1:79835250-79835251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541592783	chr1:79835265-79835266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs578025973	chr1:79835298-79835299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11162695	chr1:79835336-79835337	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs557206234	chr1:79835376-79835377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200807602	chr1:79835467-79835468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115443896	chr1:79835503-79835504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185503387	chr1:79835512-79835513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377239195	chr1:79835520-79835521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11162696	chr1:79835539-79835540	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs11162697	chr1:79835570-79835571	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs149516367	chr1:79835608-79835609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559595819	chr1:79835610-79835611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531203280	chr1:79835661-79835662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12095310	chr1:79835662-79835663	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs190211381	chr1:79835673-79835674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181121734	chr1:79835682-79835683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144095447	chr1:79835713-79835714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75630270	chr1:79835753-79835754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567697519	chr1:79835796-79835797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535003663	chr1:79835797-79835798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140620265	chr1:79835819-79835820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185715351	chr1:79835822-79835823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12092854	chr1:79835833-79835834	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs77719460	chr1:79835837-79835838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557142868	chr1:79835876-79835877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575504027	chr1:79835928-79835929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536098016	chr1:79835939-79835940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115054550	chr1:79835946-79835947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191724741	chr1:79835997-79835998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144192561	chr1:79836014-79836015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147365432	chr1:79836060-79836061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114244628	chr1:79836121-79836122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545300046	chr1:79836122-79836123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563686939	chr1:79836148-79836149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531126311	chr1:79836175-79836176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374201541	chr1:79836208-79836209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183574686	chr1:79836217-79836218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373397864	chr1:79836218-79836219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79831200-79836800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:79834400-79835400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:79835400-79839200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:79836800-79837200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:79837200-79839200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:79839000-79840600	Enhancers	Fetal Brain Male	brain
7	chr1:79839200-79839800	Enhancers	Adipose Nuclei	Adipose
8	chr1:79839200-79840400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:79839200-79840600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:79839200-79840800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:79839400-79839600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:79839400-79839800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:79839400-79840000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr1:79839400-79840800	Enhancers	Brain Germinal Matrix	brain
15	chr1:79839600-79840400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:79839600-79842800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr1:79840200-79840400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr1:79840200-79842200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr1:79840200-79842400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr1:79840200-79842400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr1:79840400-79841200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr1:79840400-79841400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:79840400-79842000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:79840400-79842400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr1:79840600-79841600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:79840600-79842400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr1:79840800-79841200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:79840800-79841400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:79840800-79842200	Weak transcription	Brain Germinal Matrix	brain
30	chr1:79841200-79841600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:79841200-79842400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr1:79841400-79842200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:79841800-79842200	Enhancers	HUVEC	blood vessel
34	chr1:79841800-79843600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:79842200-79842400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:79842200-79842400	Enhancers	Brain Germinal Matrix	brain
37	chr1:79842400-79843600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:79842400-79844200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr1:79842800-79844000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr1:79843600-79843800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:79844200-79844400	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr1:79844200-79844600	Enhancers	GM12878-XiMat	blood
43	chr1:79844200-79844800	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr1:79844400-79844600	Enhancers	Osteobl	bone
45	chr1:79857400-79858000	Enhancers	Fetal Kidney	kidney
46	chr1:79857400-79858400	Enhancers	Hela-S3	cervix
47	chr1:79876200-79876600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:79876400-79876600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:79876400-79876800	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr1:79876600-79877200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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