Variant report

Variant	nsv437229
Chromosome Location	chr1:95146564-95153262
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:3)
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	chr1:95147936..95149911-chr1:95157813..95160581,2	K562	blood:
2	chr1:95134967..95137782-chr1:95144953..95147356,2	K562	blood:
3	chr1:95143459..95146021-chr1:95146335..95147850,2	K562	blood:
4	chr1:95116283..95118037-chr1:95153158..95155389,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC44A3-2	chr1:95149856-95150619	XLOC_000303
2	lnc-SLC44A3-2	chr1:95149016-95149176	XLOC_000303
3	lnc-SLC44A3-2	chr1:95148857-95149176	XLOC_000303

No data

Variant related genes	Relation type
ENSG00000232857	chromatin interactions
SPTLC1	miRNA target sites

Extended variants
information (count: 262 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:262 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs698940	chr1:95146564-95146565	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs184833246	chr1:95146571-95146572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376360125	chr1:95146589-95146590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569147992	chr1:95146608-95146609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545891473	chr1:95146615-95146616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74594150	chr1:95146616-95146617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532302237	chr1:95146689-95146690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs923815	chr1:95146693-95146694	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs189397000	chr1:95146713-95146714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11165213	chr1:95146755-95146756	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs10874875	chr1:95146801-95146802	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs144943021	chr1:95146837-95146838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568502920	chr1:95146860-95146861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553583497	chr1:95146887-95146888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537262046	chr1:95146916-95146917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10874876	chr1:95146921-95146922	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs1245691	chr1:95146975-95146976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564127533	chr1:95147044-95147045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138531950	chr1:95147089-95147090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12085094	chr1:95147104-95147105	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs544375690	chr1:95147135-95147136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12089652	chr1:95147154-95147155	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs181443417	chr1:95147157-95147158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533085939	chr1:95147212-95147213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368522368	chr1:95147241-95147242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554375747	chr1:95147242-95147243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574446409	chr1:95147245-95147246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543093246	chr1:95147304-95147305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10874877	chr1:95147323-95147324	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs114803985	chr1:95147330-95147331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs202072577	chr1:95147354-95147355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545741804	chr1:95147423-95147424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185879719	chr1:95147513-95147514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532754025	chr1:95147514-95147515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528487958	chr1:95147539-95147540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542174644	chr1:95147544-95147545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562061945	chr1:95147623-95147624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1994850	chr1:95147637-95147638	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs551076622	chr1:95147641-95147642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571094423	chr1:95147652-95147653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77139361	chr1:95147671-95147672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547321111	chr1:95147685-95147686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112597370	chr1:95147737-95147738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76536760	chr1:95147738-95147739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534336025	chr1:95147788-95147789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs964213	chr1:95147910-95147911	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs12060582	chr1:95147918-95147919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189414198	chr1:95147919-95147920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs58646760	chr1:95148032-95148033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs397973907	chr1:95148037-95148038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	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
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Gastric cancer	16891809	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95126800-95164200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:95128400-95154600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:95135000-95154400	Weak transcription	NHLF	lung
4	chr1:95135400-95150400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:95138200-95148800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:95140000-95155600	Weak transcription	HSMMtube	muscle
7	chr1:95140400-95151000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:95142800-95148600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:95142800-95149400	Weak transcription	Fetal Muscle Leg	muscle
10	chr1:95142800-95167800	Weak transcription	Pancreas	Pancrea
11	chr1:95143000-95151000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:95143400-95149200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:95143400-95149200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:95143800-95154400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:95144000-95147000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:95144600-95148600	Weak transcription	Fetal Intestine Small	intestine
17	chr1:95145200-95157200	Weak transcription	Fetal Intestine Large	intestine
18	chr1:95145200-95163600	Weak transcription	Stomach Mucosa	stomach
19	chr1:95145400-95150400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr1:95146400-95148200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:95147000-95148200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:95148200-95148800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:95148200-95148800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:95148400-95148800	Enhancers	NHDF-Ad	bronchial
25	chr1:95148600-95149600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:95148600-95153000	Strong transcription	Fetal Intestine Small	intestine
27	chr1:95148800-95150600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr1:95148800-95152400	Weak transcription	NHDF-Ad	bronchial
29	chr1:95148800-95152600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:95148800-95154200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:95149200-95149400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr1:95149200-95149400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:95149200-95149600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:95149200-95149800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:95149400-95149600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:95149400-95149800	Enhancers	Placenta	Placenta
37	chr1:95149400-95150000	Enhancers	Fetal Muscle Leg	muscle
38	chr1:95149600-95152600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:95149800-95154000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr1:95150000-95150800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:95150200-95150400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
42	chr1:95150200-95150600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:95150400-95151200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr1:95150400-95151400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:95150600-95150800	Enhancers	Adipose Nuclei	Adipose
46	chr1:95150800-95152600	Weak transcription	Adipose Nuclei	Adipose
47	chr1:95150800-95154400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:95151000-95151200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr1:95151000-95152000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:95151200-95160600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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