Variant report

Variant	nsv872952
Chromosome Location	chr1:196174790-196304223
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:44)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:196236508..196239294-chr1:196241392..196244086,2	MCF-7	breast:
2	chr1:196222141..196224941-chr1:196228295..196230138,2	K562	blood:
3	chr1:196244654..196246787-chr1:196249924..196252778,2	K562	blood:
4	chr1:196286468..196288000-chr1:196629744..196630751,11	MCF-7	breast:
5	chr1:196220387..196223344-chr1:196224082..196227268,3	K562	blood:
6	chr1:196169821..196171868-chr1:196173071..196174937,2	K562	blood:
7	chr1:196121049..196121874-chr1:196278478..196279171,2	MCF-7	breast:
8	chr1:196290352..196291333-chr1:196629770..196630748,2	MCF-7	breast:
9	chr1:196220387..196223344-chr1:196224082..196227268,3	K562	blood:
10	chr1:196280250..196281901-chr1:196283556..196285547,2	K562	blood:
11	chr1:196200132..196202778-chr1:196204866..196207175,2	K562	blood:
12	chr1:196222141..196224941-chr1:196228295..196230138,2	K562	blood:
13	chr1:196280250..196281901-chr1:196283556..196285547,2	K562	blood:
14	chr1:196254091..196255732-chr1:196256814..196259550,2	K562	blood:
15	chr1:196303726..196305805-chr1:196305936..196307606,2	MCF-7	breast:
16	chr1:196244654..196246787-chr1:196249924..196252778,2	K562	blood:
17	chr1:196238571..196241634-chr1:196242827..196245054,3	K562	blood:
18	chr1:196195233..196196964-chr1:196196967..196198866,2	MCF-7	breast:
19	chr1:196235461..196237325-chr1:196240732..196242654,2	K562	blood:
20	chr1:196115298..196117734-chr1:196279190..196280706,2	MCF-7	breast:
21	chr1:196195233..196196964-chr1:196196967..196198866,2	MCF-7	breast:
22	chr1:196117322..196118190-chr1:196278242..196279160,3	K562	blood:
23	chr1:196222811..196225411-chr1:196227042..196229805,2	MCF-7	breast:
24	chr1:196286813..196287729-chr1:196859599..196860261,2	MCF-7	breast:
25	chr1:196286732..196287389-chr1:196629899..196630582,2	MCF-7	breast:
26	chr1:196212167..196214329-chr1:196214719..196216425,2	MCF-7	breast:
27	chr1:196176144..196178935-chr1:196181412..196184306,2	K562	blood:
28	chr1:196200132..196202778-chr1:196204866..196207175,2	K562	blood:
29	chr1:196170642..196172901-chr1:196175925..196177796,2	K562	blood:
30	chr1:196232005..196234136-chr1:196236276..196237836,2	K562	blood:
31	chr1:196254091..196255732-chr1:196256814..196259550,2	K562	blood:
32	chr1:196212167..196214329-chr1:196214719..196216425,2	MCF-7	breast:
33	chr1:196253059..196256681-chr1:196257432..196261555,4	MCF-7	breast:
34	chr1:196236508..196239294-chr1:196241392..196244086,2	MCF-7	breast:
35	chr1:196235461..196237325-chr1:196240732..196242654,2	K562	blood:
36	chr1:196286838..196288124-chr1:196341989..196342693,3	MCF-7	breast:
37	chr1:196253059..196256681-chr1:196257432..196261555,4	MCF-7	breast:
38	chr1:196232005..196234136-chr1:196236276..196237836,2	K562	blood:
39	chr1:196222811..196225411-chr1:196227042..196229805,2	MCF-7	breast:
40	chr1:196117223..196118153-chr1:196278402..196279435,4	MCF-7	breast:
41	chr1:196117505..196118611-chr1:196278061..196278931,3	MCF-7	breast:
42	chr1:196286771..196287805-chr1:196629870..196630714,4	K562	blood:
43	chr1:196238571..196241634-chr1:196242827..196245054,3	K562	blood:
44	chr1:196176144..196178935-chr1:196181412..196184306,2	K562	blood:

No data

Extended variants
information (count: 4212 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:4212 , 50 per page) page: 1 2 3 4 5 6 7 ... 85

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs927724	chr1:196174790-196174791	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112566489	chr1:196174815-196174816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376759404	chr1:196174853-196174854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561537139	chr1:196174903-196174904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550511168	chr1:196174928-196174929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550466611	chr1:196174988-196174989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190401453	chr1:196175012-196175013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111320912	chr1:196175021-196175022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565538041	chr1:196175071-196175072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532744386	chr1:196175124-196175125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138422022	chr1:196175160-196175161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111437035	chr1:196175236-196175237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182650180	chr1:196175250-196175251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78726513	chr1:196175301-196175302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186973026	chr1:196175425-196175426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535151132	chr1:196175431-196175432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140983636	chr1:196175478-196175479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537613864	chr1:196175504-196175505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs114553966	chr1:196175519-196175520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556298783	chr1:196175544-196175545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566247524	chr1:196175576-196175577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559792445	chr1:196176040-196176041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530080483	chr1:196176052-196176053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548683911	chr1:196176062-196176063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570077156	chr1:196176065-196176066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537535054	chr1:196176088-196176089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146926578	chr1:196176092-196176093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549752348	chr1:196176102-196176103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146034796	chr1:196176117-196176118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111521117	chr1:196176118-196176119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553611798	chr1:196176184-196176185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs367789395	chr1:196176188-196176189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs79348512	chr1:196176201-196176202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116521140	chr1:196176236-196176237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554527993	chr1:196176287-196176288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs141777646	chr1:196176315-196176316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76006886	chr1:196176368-196176369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558429622	chr1:196176381-196176382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146239033	chr1:196176402-196176403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189096259	chr1:196176434-196176435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs369366079	chr1:196176459-196176460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373734863	chr1:196176470-196176471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577471074	chr1:196176473-196176474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs80018748	chr1:196176504-196176505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs148439962	chr1:196176508-196176509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577109874	chr1:196176525-196176526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530394011	chr1:196176560-196176561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541889395	chr1:196176562-196176563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs193035856	chr1:196176578-196176579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116348990	chr1:196176600-196176601	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	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
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Neuroblastoma	20406844	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Glioma	20126413	CNVD

Chromatin state (count:318 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196174200-196175200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr1:196175000-196175600	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr1:196176000-196176800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:196176000-196176800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:196176000-196177000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:196176400-196176800	Enhancers	NHEK	skin
7	chr1:196176800-196177200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:196177200-196179400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:196178200-196179400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:196178400-196179000	Enhancers	NHDF-Ad	bronchial
11	chr1:196184200-196184600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:196184200-196184600	Enhancers	H9 Cell Line	embryonic stem cell
13	chr1:196184200-196185000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr1:196184200-196185000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr1:196187800-196188400	ZNF genes & repeats	Liver	Liver
16	chr1:196188400-196194400	Weak transcription	Liver	Liver
17	chr1:196194400-196194800	ZNF genes & repeats	Liver	Liver
18	chr1:196194800-196205200	Strong transcription	Liver	Liver
19	chr1:196195200-196197800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:196195600-196210600	Weak transcription	Fetal Brain Male	brain
21	chr1:196197400-196213000	Weak transcription	Ovary	ovary
22	chr1:196197800-196218400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr1:196205200-196212000	Weak transcription	Liver	Liver
24	chr1:196210800-196212800	Weak transcription	Fetal Muscle Leg	muscle
25	chr1:196211000-196212600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:196211400-196213000	Weak transcription	Fetal Stomach	stomach
27	chr1:196211600-196213200	Weak transcription	Fetal Brain Female	brain
28	chr1:196212000-196214000	Strong transcription	Liver	Liver
29	chr1:196212000-196219000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:196212600-196214200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:196212800-196214400	Strong transcription	Fetal Muscle Leg	muscle
32	chr1:196212800-196215200	Weak transcription	Small Intestine	intestine
33	chr1:196213000-196214200	Strong transcription	Fetal Stomach	stomach
34	chr1:196213000-196214600	Strong transcription	Ovary	ovary
35	chr1:196213200-196214200	Strong transcription	Fetal Brain Female	brain
36	chr1:196213600-196219000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr1:196213800-196216600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr1:196214000-196241400	Weak transcription	Liver	Liver
39	chr1:196214200-196215800	Weak transcription	Fetal Brain Female	brain
40	chr1:196214200-196216800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:196214200-196217600	Weak transcription	Fetal Stomach	stomach
42	chr1:196214400-196220200	Weak transcription	Fetal Muscle Leg	muscle
43	chr1:196214600-196247800	Weak transcription	Ovary	ovary
44	chr1:196223600-196224200	Enhancers	Muscle Satellite Cultured Cells	--
45	chr1:196224800-196225000	Bivalent Enhancer	Primary B cells from cord blood	blood
46	chr1:196227400-196227600	Enhancers	Left Ventricle	heart
47	chr1:196228200-196228600	Enhancers	Fetal Lung	lung
48	chr1:196228400-196228800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:196228400-196229200	Bivalent Enhancer	Primary B cells from cord blood	blood
50	chr1:196233800-196234200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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