Variant report

Variant	nsv945284
Chromosome Location	chr1:214655593-214656804
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr1:214655327-214655821	A549	lung:	n/a	n/a
2	FOXA2	chr1:214655371-214655801	A549	lung:	n/a	chr1:214655578-214655590
3	HEY1	chr1:214656601-214656887	HepG2	liver:	n/a	n/a
4	POLR2A	chr1:214656519-214656740	ProgFib	skin:	n/a	n/a
5	POLR2A	chr1:214656628-214656745	GM12878	blood:	n/a	n/a
6	POLR2A	chr1:214656068-214656094	HepG2	liver:	n/a	n/a
7	POLR2A	chr1:214656637-214656718	A549	lung:	n/a	n/a
8	POLR2A	chr1:214656625-214656738	GM12878	blood:	n/a	n/a
9	POLR2A	chr1:214656490-214656656	HepG2	liver:	n/a	n/a
10	POLR2A	chr1:214656685-214656718	Gliobla	brain:	n/a	n/a
11	POLR2A	chr1:214656632-214656780	A549	lung:	n/a	n/a
12	POLR2A	chr1:214656701-214656721	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:214656600..214658506-chr1:214723643..214725822,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-USH2A-4	chr1:214656156-214656730	NONHSAT009464
2	lnc-USH2A-4	chr1:214655882-214656819	NONHSAT009463

No data

Variant related genes	Relation type
ENSG00000213036	TF binding region
ENSG00000152104	chromatin interactions

Extended variants
information (count: 95 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539514342	chr1:214655632-214655633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556025121	chr1:214655676-214655677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs56089935	chr1:214655681-214655682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144688026	chr1:214655689-214655690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111411721	chr1:214655701-214655702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs55760423	chr1:214655743-214655744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79295541	chr1:214655758-214655759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185185513	chr1:214655800-214655801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139694394	chr1:214655814-214655815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529665899	chr1:214655815-214655816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs111690740	chr1:214655823-214655824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111806866	chr1:214655833-214655834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs17790652	chr1:214655840-214655841	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs572381167	chr1:214655884-214655885	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs12096551	chr1:214655890-214655891	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs111335858	chr1:214655895-214655896	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs191922109	chr1:214655908-214655909	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs201517619	chr1:214655922-214655923	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs554641505	chr1:214655923-214655924	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs59662579	chr1:214655933-214655934	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs201085884	chr1:214655934-214655935	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs186643566	chr1:214655940-214655941	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs563661143	chr1:214655941-214655942	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs112095945	chr1:214655943-214655944	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs112370571	chr1:214655979-214655980	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs112854551	chr1:214655986-214655987	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs542831561	chr1:214655990-214655991	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs74709691	chr1:214656022-214656023	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs191891242	chr1:214656042-214656043	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs539342321	chr1:214656043-214656044	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs182522630	chr1:214656050-214656051	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs77576710	chr1:214656066-214656067	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs12740343	chr1:214656070-214656071	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs551832456	chr1:214656096-214656097	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs570417794	chr1:214656113-214656114	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs58782956	chr1:214656164-214656165	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs115851667	chr1:214656165-214656166	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs200411782	chr1:214656184-214656185	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs187118734	chr1:214656243-214656244	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs74797197	chr1:214656254-214656255	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs77987889	chr1:214656259-214656260	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs371306118	chr1:214656261-214656262	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs75504040	chr1:214656267-214656268	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs78165379	chr1:214656268-214656269	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs79052802	chr1:214656277-214656278	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs55872127	chr1:214656298-214656299	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs142106915	chr1:214656302-214656303	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs535604670	chr1:214656315-214656316	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs75490133	chr1:214656333-214656334	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs56111551	chr1:214656344-214656345	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Breast cancer	22522925	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214641400-214667800	Weak transcription	Hela-S3	cervix
2	chr1:214645200-214656600	Weak transcription	Fetal Intestine Large	intestine
3	chr1:214645800-214666000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr1:214646000-214672200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:214647200-214661600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:214648000-214669400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:214649200-214660800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:214650200-214657400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:214650200-214658000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:214650200-214666000	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:214650600-214657400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:214650800-214656400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:214650800-214657400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:214650800-214660000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:214650800-214662600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:214651000-214656200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:214651000-214656200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr1:214651000-214656400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:214651000-214656800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:214651000-214666400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:214651200-214656200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:214651200-214657400	Weak transcription	Psoas Muscle	Psoas
23	chr1:214651200-214659400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:214651200-214664600	Weak transcription	Left Ventricle	heart
25	chr1:214651200-214665600	Weak transcription	NHLF	lung
26	chr1:214651200-214666000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:214651200-214666400	Weak transcription	Adipose Nuclei	Adipose
28	chr1:214651400-214655600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr1:214651600-214656200	Weak transcription	Colon Smooth Muscle	Colon
30	chr1:214651600-214661400	Weak transcription	Fetal Heart	heart
31	chr1:214651800-214655600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr1:214651800-214655800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr1:214651800-214655800	Weak transcription	A549	lung
34	chr1:214651800-214656600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr1:214651800-214658000	Weak transcription	NH-A	brain
36	chr1:214651800-214663000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr1:214651800-214665400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:214651800-214668000	Weak transcription	HSMMtube	muscle
39	chr1:214652000-214665800	Weak transcription	NHDF-Ad	bronchial
40	chr1:214652000-214666000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:214652200-214658000	Weak transcription	HSMM	muscle
42	chr1:214652200-214664800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:214652600-214656000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:214652600-214656200	Weak transcription	HMEC	breast
45	chr1:214652600-214657400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:214652600-214662000	Weak transcription	HUVEC	blood vessel
47	chr1:214654200-214656200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:214654200-214656400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr1:214654400-214655600	Weak transcription	Osteobl	bone
50	chr1:214654400-214656200	Weak transcription	NHEK	skin

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