Variant report

Variant	nsv832237
Chromosome Location	chr1:196205674-196328500
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:43)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:196244654..196246787-chr1:196249924..196252778,2	K562	blood:
2	chr1:196253059..196256681-chr1:196257432..196261555,4	MCF-7	breast:
3	chr1:196321988..196324034-chr1:196327393..196330168,2	K562	blood:
4	chr1:196280250..196281901-chr1:196283556..196285547,2	K562	blood:
5	chr1:196280250..196281901-chr1:196283556..196285547,2	K562	blood:
6	chr1:196222141..196224941-chr1:196228295..196230138,2	K562	blood:
7	chr1:196303726..196305805-chr1:196305936..196307606,2	MCF-7	breast:
8	chr1:196115298..196117734-chr1:196279190..196280706,2	MCF-7	breast:
9	chr1:196236508..196239294-chr1:196241392..196244086,2	MCF-7	breast:
10	chr1:196235461..196237325-chr1:196240732..196242654,2	K562	blood:
11	chr1:196121049..196121874-chr1:196278478..196279171,2	MCF-7	breast:
12	chr1:196238571..196241634-chr1:196242827..196245054,3	K562	blood:
13	chr1:196212167..196214329-chr1:196214719..196216425,2	MCF-7	breast:
14	chr1:196222811..196225411-chr1:196227042..196229805,2	MCF-7	breast:
15	chr1:196222811..196225411-chr1:196227042..196229805,2	MCF-7	breast:
16	chr1:196117223..196118153-chr1:196278402..196279435,4	MCF-7	breast:
17	chr1:196324457..196325040-chr1:196341784..196342383,2	MCF-7	breast:
18	chr1:196117505..196118611-chr1:196278061..196278931,3	MCF-7	breast:
19	chr1:196321988..196324034-chr1:196327393..196330168,2	K562	blood:
20	chr1:196254091..196255732-chr1:196256814..196259550,2	K562	blood:
21	chr1:196235461..196237325-chr1:196240732..196242654,2	K562	blood:
22	chr1:196200132..196202778-chr1:196204866..196207175,2	K562	blood:
23	chr1:196286732..196287389-chr1:196629899..196630582,2	MCF-7	breast:
24	chr1:196117322..196118190-chr1:196278242..196279160,3	K562	blood:
25	chr1:196324467..196324970-chr1:196629741..196630381,2	MCF-7	breast:
26	chr1:196244654..196246787-chr1:196249924..196252778,2	K562	blood:
27	chr1:196303726..196305805-chr1:196305936..196307606,2	MCF-7	breast:
28	chr1:196290352..196291333-chr1:196629770..196630748,2	MCF-7	breast:
29	chr1:196220387..196223344-chr1:196224082..196227268,3	K562	blood:
30	chr1:196212167..196214329-chr1:196214719..196216425,2	MCF-7	breast:
31	chr1:196222141..196224941-chr1:196228295..196230138,2	K562	blood:
32	chr1:196286468..196288000-chr1:196629744..196630751,11	MCF-7	breast:
33	chr1:196286771..196287805-chr1:196629870..196630714,4	K562	blood:
34	chr1:196232005..196234136-chr1:196236276..196237836,2	K562	blood:
35	chr1:196324245..196324925-chr1:196342034..196342605,2	MCF-7	breast:
36	chr1:196236508..196239294-chr1:196241392..196244086,2	MCF-7	breast:
37	chr1:196286838..196288124-chr1:196341989..196342693,3	MCF-7	breast:
38	chr1:196254091..196255732-chr1:196256814..196259550,2	K562	blood:
39	chr1:196238571..196241634-chr1:196242827..196245054,3	K562	blood:
40	chr1:196220387..196223344-chr1:196224082..196227268,3	K562	blood:
41	chr1:196286813..196287729-chr1:196859599..196860261,2	MCF-7	breast:
42	chr1:196232005..196234136-chr1:196236276..196237836,2	K562	blood:
43	chr1:196253059..196256681-chr1:196257432..196261555,4	MCF-7	breast:

No data

Extended variants
information (count: 4450 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:4450 , 50 per page) page: 1 2 3 4 5 6 7 ... 89

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554661486	chr1:196205751-196205752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34582586	chr1:196205781-196205782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576519905	chr1:196205963-196205964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543535170	chr1:196205968-196205969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs386638231	chr1:196206052-196206053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs386638232	chr1:196206066-196206067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562729063	chr1:196206070-196206071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532979657	chr1:196206072-196206073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147259795	chr1:196206115-196206116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186180694	chr1:196206172-196206173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201083764	chr1:196206209-196206210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377250545	chr1:196206210-196206211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370409744	chr1:196206216-196206217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527580343	chr1:196206218-196206219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549006062	chr1:196206230-196206231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567136553	chr1:196206273-196206274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531465382	chr1:196206324-196206325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549633001	chr1:196206366-196206367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190389805	chr1:196206367-196206368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181705012	chr1:196206411-196206412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543118653	chr1:196206444-196206445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554360707	chr1:196206450-196206451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566421888	chr1:196206468-196206469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536936118	chr1:196206473-196206474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554980623	chr1:196206476-196206477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111744637	chr1:196206483-196206484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567873727	chr1:196206516-196206517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs80136445	chr1:196206602-196206603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147225355	chr1:196206622-196206623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139612144	chr1:196206626-196206627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372928230	chr1:196206631-196206632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78610917	chr1:196206726-196206727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79524406	chr1:196206732-196206733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545229737	chr1:196206749-196206750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186557105	chr1:196206789-196206790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565031500	chr1:196206880-196206881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531224099	chr1:196206889-196206890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191009403	chr1:196206892-196206893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115950279	chr1:196206980-196206981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532242142	chr1:196207016-196207017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182344962	chr1:196207057-196207058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376161402	chr1:196207158-196207159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185197703	chr1:196207161-196207162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536978664	chr1:196207180-196207181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113180296	chr1:196207186-196207187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112520754	chr1:196207191-196207192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537058179	chr1:196207216-196207217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189759312	chr1:196207289-196207290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144544432	chr1:196207321-196207322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148442601	chr1:196207339-196207340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Neuroblastoma	20406844	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Glioma	20126413	CNVD

Chromatin state (count:359 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196195600-196210600	Weak transcription	Fetal Brain Male	brain
2	chr1:196197400-196213000	Weak transcription	Ovary	ovary
3	chr1:196197800-196218400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr1:196205200-196212000	Weak transcription	Liver	Liver
5	chr1:196210800-196212800	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:196211000-196212600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:196211400-196213000	Weak transcription	Fetal Stomach	stomach
8	chr1:196211600-196213200	Weak transcription	Fetal Brain Female	brain
9	chr1:196212000-196214000	Strong transcription	Liver	Liver
10	chr1:196212000-196219000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:196212600-196214200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:196212800-196214400	Strong transcription	Fetal Muscle Leg	muscle
13	chr1:196212800-196215200	Weak transcription	Small Intestine	intestine
14	chr1:196213000-196214200	Strong transcription	Fetal Stomach	stomach
15	chr1:196213000-196214600	Strong transcription	Ovary	ovary
16	chr1:196213200-196214200	Strong transcription	Fetal Brain Female	brain
17	chr1:196213600-196219000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr1:196213800-196216600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:196214000-196241400	Weak transcription	Liver	Liver
20	chr1:196214200-196215800	Weak transcription	Fetal Brain Female	brain
21	chr1:196214200-196216800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:196214200-196217600	Weak transcription	Fetal Stomach	stomach
23	chr1:196214400-196220200	Weak transcription	Fetal Muscle Leg	muscle
24	chr1:196214600-196247800	Weak transcription	Ovary	ovary
25	chr1:196223600-196224200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr1:196224800-196225000	Bivalent Enhancer	Primary B cells from cord blood	blood
27	chr1:196227400-196227600	Enhancers	Left Ventricle	heart
28	chr1:196228200-196228600	Enhancers	Fetal Lung	lung
29	chr1:196228400-196228800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:196228400-196229200	Bivalent Enhancer	Primary B cells from cord blood	blood
31	chr1:196233800-196234200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:196234000-196234800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr1:196234000-196234800	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr1:196234000-196234800	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr1:196234000-196235200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr1:196234200-196234400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:196234200-196234400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr1:196234200-196234800	Enhancers	H9 Cell Line	embryonic stem cell
39	chr1:196234200-196234800	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr1:196234200-196235000	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr1:196234200-196235000	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr1:196234200-196235800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:196234800-196236800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:196234800-196248600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr1:196234800-196252200	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr1:196234800-196255400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr1:196235000-196236000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr1:196235000-196236400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr1:196235000-196236400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr1:196235200-196235600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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