Variant report

Variant	nsv999123
Chromosome Location	chr1:113297485-113352172
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:53)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:53 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:113259850..113261663-chr1:113346224..113348160,2	K562	blood:
2	chr1:113303775..113306449-chr1:113308218..113310007,2	MCF-7	breast:
3	chr1:113280037..113281182-chr1:113346502..113347495,4	MCF-7	breast:
4	chr1:113286977..113288523-chr1:113338925..113341550,2	K562	blood:
5	chr1:113256377..113259219-chr1:113330074..113333920,3	MCF-7	breast:
6	chr1:113336004..113338638-chr1:113347220..113350748,3	K562	blood:
7	chr1:113262194..113266688-chr1:113347880..113352224,5	MCF-7	breast:
8	chr1:113270002..113271018-chr1:113346519..113347901,8	MCF-7	breast:
9	chr1:113258153..113259710-chr1:113345919..113347682,21	MCF-7	breast:
10	chr1:113258243..113259603-chr1:113346569..113347471,7	MCF-7	breast:
11	chr1:113260737..113262292-chr1:113346514..113347895,8	MCF-7	breast:
12	chr1:113351443..113352326-chr1:113584981..113585924,5	MCF-7	breast:
13	chr1:113269314..113271900-chr1:113344894..113347076,3	MCF-7	breast:
14	chr1:113351744..113352435-chr1:113615333..113616324,3	K562	blood:
15	chr1:113314765..113317028-chr1:113318747..113320403,2	K562	blood:
16	chr1:113279985..113280850-chr1:113346538..113347427,2	K562	blood:
17	chr1:113256970..113259451-chr1:113300193..113302010,2	MCF-7	breast:
18	chr1:113351562..113352325-chr1:113615161..113616117,3	MCF-7	breast:
19	chr1:113260993..113261954-chr1:113346492..113347443,7	K562	blood:
20	chr1:113256920..113257653-chr1:113351799..113352468,2	MCF-7	breast:
21	chr1:113334172..113336073-chr1:113497072..113498817,2	K562	blood:
22	chr1:113350162..113352262-chr1:113614646..113616271,2	MCF-7	breast:
23	chr1:113296959..113298608-chr1:113304015..113305557,2	MCF-7	breast:
24	chr1:113258859..113259494-chr1:113351565..113352185,2	MCF-7	breast:
25	chr1:113303775..113306449-chr1:113308218..113310007,2	MCF-7	breast:
26	chr1:113261041..113262045-chr1:113346518..113347739,14	MCF-7	breast:
27	chr1:113258681..113259438-chr1:113351567..113352234,2	MCF-7	breast:
28	chr1:113342047..113343911-chr1:113444698..113447399,2	K562	blood:
29	chr1:113311989..113313843-chr1:113322211..113324163,2	K562	blood:
30	chr1:113331242..113332912-chr1:113335050..113337529,2	MCF-7	breast:
31	chr1:113254388..113257087-chr1:113348498..113350329,2	MCF-7	breast:
32	chr1:113257528..113259830-chr1:113345553..113348526,2	K562	blood:
33	chr1:113346446..113346980-chr21:29107601..29108558,2	MCF-7	breast:
34	chr1:113258018..113259770-chr1:113346059..113348138,22	K562	blood:
35	chr1:113296959..113298608-chr1:113304015..113305557,2	MCF-7	breast:
36	chr1:113351564..113352512-chr1:113584963..113585860,4	MCF-7	breast:
37	chr1:113346242..113347922-chr1:113394008..113395856,2	MCF-7	breast:
38	chr1:113256402..113259663-chr1:113350471..113353019,3	K562	blood:
39	chr1:113257560..113260668-chr1:113344360..113350242,8	MCF-7	breast:
40	chr1:113351576..113352442-chr1:113423249..113424028,4	MCF-7	breast:
41	chr1:113299696..113301720-chr1:113304591..113306772,2	K562	blood:
42	chr1:113331242..113332912-chr1:113335050..113337529,2	MCF-7	breast:
43	chr1:113351549..113352456-chr1:113584930..113585890,3	K562	blood:
44	chr1:113332030..113332946-chr20:56000234..56001227,2	MCF-7	breast:
45	chr1:113336004..113338638-chr1:113347220..113350748,3	K562	blood:
46	chr1:113337235..113339219-chr1:113339220..113340915,2	MCF-7	breast:
47	chr1:113344825..113346941-chr1:113614916..113616436,2	MCF-7	breast:
48	chr1:113299696..113301720-chr1:113304591..113306772,2	K562	blood:
49	chr1:113261035..113261874-chr1:113348328..113348915,2	MCF-7	breast:
50	chr1:113314765..113317028-chr1:113318747..113320403,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM19A3-4	chr1:113304622-113304720	ucscGeneNc_uc001edd_2
2	lnc-FAM19A3-4	chr1:113312180-113313119	ucscGeneNc_uc001edd_2
3	lnc-FAM19A3-4	chr1:113300594-113301867	ucscGeneNc_uc001edd_2

No data

Variant related genes	Relation type
ENSG00000184599	chromatin interactions
ENSG00000238198	chromatin interactions
ENSG00000198799	chromatin interactions
ENSG00000261595	chromatin interactions
ENSG00000155367	chromatin interactions
ENSG00000155380	chromatin interactions

Extended variants
information (count: 2122 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:2122 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573692759	chr1:113297492-113297493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371202239	chr1:113297494-113297495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542714697	chr1:113297495-113297496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114906715	chr1:113297498-113297499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192912396	chr1:113297506-113297507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541264308	chr1:113297552-113297553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79440036	chr1:113297560-113297561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533432902	chr1:113297572-113297573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550078124	chr1:113297640-113297641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138218604	chr1:113297666-113297667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs6537755	chr1:113297708-113297709	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs116334994	chr1:113297762-113297763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6537756	chr1:113297767-113297768	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs535164795	chr1:113297790-113297791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557645615	chr1:113297811-113297812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185127703	chr1:113297883-113297884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537305159	chr1:113297900-113297901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557312521	chr1:113297929-113297930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548120809	chr1:113297942-113297943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573629884	chr1:113298028-113298029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188947319	chr1:113298052-113298053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552981595	chr1:113298115-113298116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142812192	chr1:113298160-113298161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192517239	chr1:113298195-113298196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564488470	chr1:113298200-113298201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543211668	chr1:113298205-113298206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370896703	chr1:113298265-113298266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533371323	chr1:113298284-113298285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183902090	chr1:113298300-113298301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563650086	chr1:113298304-113298305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188335373	chr1:113298347-113298348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs180752075	chr1:113298349-113298350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376189446	chr1:113298364-113298365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549104141	chr1:113298365-113298366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559724890	chr1:113298380-113298381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35271049	chr1:113298429-113298430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528561449	chr1:113298501-113298502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143232445	chr1:113298516-113298517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6669536	chr1:113298549-113298550	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs184775456	chr1:113298608-113298609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199714645	chr1:113298616-113298617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189683076	chr1:113298621-113298622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550851768	chr1:113298622-113298623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148333770	chr1:113298739-113298740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6683234	chr1:113298765-113298766	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs141456755	chr1:113298778-113298779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371915121	chr1:113298801-113298802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572814620	chr1:113298852-113298853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538327413	chr1:113298853-113298854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181877110	chr1:113298859-113298860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
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
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
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Asthma	20841430	CNVD
Aetanephric adenomas	20802469	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	16573809	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Breast cancer	17899364	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Melanoma	19671679	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:539 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113291200-113301000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:113297600-113298200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:113300600-113301600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr1:113300800-113301400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr1:113300800-113301400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:113300800-113301600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:113300800-113301600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:113300800-113301800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr1:113300800-113301800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr1:113301000-113301400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:113301000-113301600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr1:113301000-113301600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:113301200-113301400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:113301200-113301400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:113301200-113301400	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:113301200-113301400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:113301200-113301400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:113301200-113301400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:113301200-113301400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr1:113301200-113301400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr1:113301200-113301400	Enhancers	Fetal Muscle Leg	muscle
22	chr1:113301200-113301400	Enhancers	Osteobl	bone
23	chr1:113301200-113301600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:113301200-113301600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:113301200-113301600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr1:113301200-113301600	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr1:113301200-113302000	Enhancers	Placenta	Placenta
28	chr1:113301400-113301600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:113301400-113301600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:113301400-113301600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:113301400-113301600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:113301400-113301800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:113301400-113304600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:113301400-113304800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:113301400-113305400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:113301400-113305400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:113301600-113304000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:113301600-113304400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:113301600-113304600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr1:113301600-113304800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr1:113301600-113305000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:113301600-113305000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:113301600-113305000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr1:113301600-113305200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr1:113301600-113305400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr1:113301800-113305000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr1:113301800-113305000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr1:113301800-113305200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:113302000-113304800	Weak transcription	Placenta	Placenta
50	chr1:113302600-113304800	Weak transcription	Fetal Muscle Leg	muscle

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