Variant report

Variant	nsv872786
Chromosome Location	chr1:190833014-190921719
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:12)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:190907314..190910311-chr1:190988688..190990783,2	K562	blood:
2	chr1:190868639..190870374-chr1:190872516..190874922,2	K562	blood:
3	chr1:190860555..190863125-chr1:190865070..190867531,2	K562	blood:
4	chr1:190844875..190847195-chr1:190856499..190859471,2	MCF-7	breast:
5	chr1:190889013..190890903-chr1:190897780..190899545,2	MCF-7	breast:
6	chr1:190889013..190890903-chr1:190897780..190899545,2	MCF-7	breast:
7	chr1:190868639..190870374-chr1:190872516..190874922,2	K562	blood:
8	chr1:190846680..190849341-chr1:190853076..190854890,2	K562	blood:
9	chr1:190844875..190847195-chr1:190856499..190859471,2	MCF-7	breast:
10	chr1:190756137..190758790-chr1:190838517..190840500,2	K562	blood:
11	chr1:190846680..190849341-chr1:190853076..190854890,2	K562	blood:
12	chr1:190860555..190863125-chr1:190865070..190867531,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM5C-7	chr1:190844364-190848977	NONHSAT008513
2	lnc-FAM5C-7	chr1:190851006-190851215	NONHSAT008513

No data

Extended variants
information (count: 1282 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1282 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2105422	chr1:190833014-190833015	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs74324447	chr1:190833019-190833020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190301656	chr1:190833092-190833093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192785936	chr1:190833103-190833104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149926008	chr1:190833167-190833168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs151284670	chr1:190833179-190833180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371927270	chr1:190833187-190833188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371998503	chr1:190833194-190833195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs386637945	chr1:190833195-190833196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs71103687	chr1:190833197-190833198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142096428	chr1:190833199-190833200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs55923281	chr1:190833200-190833201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs72737043	chr1:190833202-190833203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10920819	chr1:190833216-190833217	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs527279446	chr1:190833229-190833230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139911823	chr1:190833232-190833233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs80188106	chr1:190833255-190833256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184172682	chr1:190833257-190833258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549633328	chr1:190833292-190833293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569821363	chr1:190833294-190833295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375479524	chr1:190833304-190833305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12738399	chr1:190833356-190833357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554545036	chr1:190833368-190833369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1370883	chr1:190833401-190833402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533918725	chr1:190833405-190833406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1170705	chr1:190833409-190833410	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs577182163	chr1:190833466-190833467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs79332652	chr1:190833468-190833469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556240210	chr1:190833499-190833500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112220211	chr1:190833506-190833507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542055618	chr1:190833524-190833525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113147389	chr1:190833546-190833547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs386637946	chr1:190833559-190833560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528013944	chr1:190833560-190833561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566336015	chr1:190833563-190833564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149821059	chr1:190833599-190833600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189939593	chr1:190833611-190833612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533772135	chr1:190833623-190833624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569808824	chr1:190833627-190833628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374033410	chr1:190833653-190833654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529097863	chr1:190833657-190833658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs371795226	chr1:190833669-190833670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113785410	chr1:190833694-190833695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1370882	chr1:190833695-190833696	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs565964131	chr1:190833703-190833704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181113048	chr1:190833722-190833723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs557787325	chr1:190833762-190833763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555375620	chr1:190833799-190833800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7521393	chr1:190833868-190833869	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs186141143	chr1:190833889-190833890	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
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
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	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
Hepatocellular carcinoma	18803288	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
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	17086460	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190832800-190834000	Enhancers	HMEC	breast
2	chr1:190832800-190834200	Enhancers	NHEK	skin
3	chr1:190833000-190834000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:190833000-190834000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:190833000-190834400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:190833200-190833600	Enhancers	Gastric	stomach
7	chr1:190833400-190833800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:190833400-190833800	Enhancers	Esophagus	oesophagus
9	chr1:190858200-190858400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:190860600-190860800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:190872200-190873400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:190872600-190873800	Enhancers	NH-A	brain
13	chr1:190872800-190873600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:190873000-190873800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:190873400-190873800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:190873400-190873800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:190873400-190873800	Enhancers	HMEC	breast
18	chr1:190873800-190874000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:190873800-190874800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:190874000-190877600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:190875000-190875200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:190875600-190875800	Enhancers	Colon Smooth Muscle	Colon
23	chr1:190876000-190878400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr1:190876400-190876600	Enhancers	Colon Smooth Muscle	Colon
25	chr1:190877600-190878400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:190881000-190881400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:190881200-190881400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr1:190884800-190885400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:190885000-190886000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:190885400-190898800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:190898800-190899000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:190898800-190899200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr1:190899000-190899200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:190903000-190903200	Enhancers	Fetal Brain Male	brain
35	chr1:190903400-190904400	Weak transcription	Fetal Brain Male	brain
36	chr1:190904400-190905200	Enhancers	Fetal Brain Male	brain
37	chr1:190904400-190905800	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr1:190904400-190906000	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr1:190904400-190906200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:190904400-190906200	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr1:190904600-190904800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:190904800-190905400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:190904800-190905600	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr1:190904800-190905600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:190904800-190905800	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr1:190904800-190906600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:190905000-190905600	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr1:190905000-190906000	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr1:190905600-190906400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:190919000-190919200	Enhancers	Ovary	ovary

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