Variant report

Variant	nsv548742
Chromosome Location	chr1:196339655-196391866
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:196324457..196325040-chr1:196341784..196342383,2	MCF-7	breast:
2	chr1:196352575..196354631-chr1:196357298..196358845,2	K562	blood:
3	chr1:196350682..196352387-chr1:196355306..196358065,2	K562	blood:
4	chr1:196342199..196343885-chr1:196346631..196348426,2	K562	blood:
5	chr1:196352575..196354631-chr1:196357298..196358845,2	K562	blood:
6	chr1:196342199..196343885-chr1:196346631..196348426,2	K562	blood:
7	chr1:196364017..196366304-chr1:196368706..196370485,2	K562	blood:
8	chr1:196373223..196374737-chr1:196383662..196386245,2	MCF-7	breast:
9	chr1:196372518..196376500-chr1:196378398..196382162,4	K562	blood:
10	chr1:196373223..196374737-chr1:196383662..196386245,2	MCF-7	breast:
11	chr1:196286838..196288124-chr1:196341989..196342693,3	MCF-7	breast:
12	chr1:196349642..196352554-chr1:196364645..196367133,2	K562	blood:
13	chr1:196355400..196357247-chr1:196358830..196361358,2	K562	blood:
14	chr1:196372518..196376500-chr1:196378398..196382162,4	K562	blood:
15	chr1:196364017..196366304-chr1:196368706..196370485,2	K562	blood:
16	chr1:196361773..196364376-chr1:196366014..196367979,3	K562	blood:
17	chr1:196360024..196360898-chr9:82652545..82653460,2	MCF-7	breast:
18	chr1:196324245..196324925-chr1:196342034..196342605,2	MCF-7	breast:
19	chr1:196361773..196364376-chr1:196366014..196367979,3	K562	blood:
20	chr1:196350682..196352387-chr1:196355306..196358065,2	K562	blood:
21	chr1:196340059..196341876-chr1:196348067..196350218,2	K562	blood:
22	chr1:196340059..196341876-chr1:196348067..196350218,2	K562	blood:
23	chr1:196366632..196369217-chr1:212900913..212902488,2	K562	blood:
24	chr1:196349642..196352554-chr1:196364645..196367133,2	K562	blood:
25	chr1:196355400..196357247-chr1:196358830..196361358,2	K562	blood:

No data

Extended variants
information (count: 1919 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1919 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7552975	chr1:196339655-196339656	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562235191	chr1:196339658-196339659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373930796	chr1:196339684-196339685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7531291	chr1:196339685-196339686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565036911	chr1:196339688-196339689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533002916	chr1:196339697-196339698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550263981	chr1:196339709-196339710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559865833	chr1:196339739-196339740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147811894	chr1:196339773-196339774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141331808	chr1:196339813-196339814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543931217	chr1:196339814-196339815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567286713	chr1:196339843-196339844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142638283	chr1:196339844-196339845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549949166	chr1:196339869-196339870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571356472	chr1:196339876-196339877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs151006335	chr1:196339888-196339889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529500451	chr1:196339972-196339973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140897934	chr1:196339990-196339991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538691380	chr1:196340002-196340003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554428508	chr1:196340026-196340027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572513780	chr1:196340093-196340094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536988826	chr1:196340109-196340110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554943626	chr1:196340202-196340203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576431929	chr1:196340214-196340215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188734260	chr1:196340221-196340222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564898612	chr1:196340253-196340254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535969453	chr1:196340278-196340279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576925432	chr1:196340311-196340312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541101714	chr1:196340318-196340319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559933352	chr1:196340343-196340344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527481546	chr1:196340349-196340350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74468728	chr1:196340417-196340418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561023227	chr1:196340439-196340440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531378521	chr1:196340455-196340456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549812373	chr1:196340473-196340474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs193183563	chr1:196340592-196340593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185260666	chr1:196340605-196340606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188525856	chr1:196340627-196340628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566289622	chr1:196340629-196340630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536442454	chr1:196340654-196340655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34030071	chr1:196340660-196340661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562592756	chr1:196340798-196340799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532835907	chr1:196340861-196340862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555281311	chr1:196340863-196340864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150394991	chr1:196340902-196340903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191817693	chr1:196340909-196340910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558552745	chr1:196340932-196340933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563223861	chr1:196341001-196341002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183991057	chr1:196341013-196341014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541163390	chr1:196341026-196341027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:268 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196327200-196342400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr1:196334000-196342400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr1:196337800-196342000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:196337800-196342400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:196342000-196343600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr1:196342400-196343000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr1:196342400-196343400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr1:196342400-196343600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr1:196342400-196343600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr1:196342600-196343200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:196342600-196343400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr1:196343400-196343800	Enhancers	Liver	Liver
13	chr1:196343400-196377200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:196343600-196362200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:196343600-196369200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:196343800-196362200	Weak transcription	Liver	Liver
17	chr1:196345600-196346000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr1:196345600-196346200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:196345800-196346200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:196346000-196346200	Active TSS	Fetal Lung	lung
21	chr1:196346200-196348000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr1:196346200-196349400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:196346200-196355600	Weak transcription	Fetal Lung	lung
24	chr1:196348600-196348800	Enhancers	Rectal Smooth Muscle	rectum
25	chr1:196348800-196349200	Enhancers	Fetal Brain Male	brain
26	chr1:196348800-196349400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr1:196349200-196349400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:196349400-196350000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:196349400-196350200	Enhancers	Rectal Smooth Muscle	rectum
30	chr1:196349400-196368600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:196349600-196350000	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr1:196349600-196350200	Active TSS	Fetal Brain Female	brain
33	chr1:196350000-196350200	Bivalent Enhancer	Pancreatic Islets	Pancreatic Islet
34	chr1:196350800-196351000	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr1:196351600-196353000	Enhancers	HepG2	liver
36	chr1:196353600-196354000	Active TSS	Fetal Muscle Trunk	muscle
37	chr1:196354000-196354400	Enhancers	Fetal Heart	heart
38	chr1:196354000-196354400	Active TSS	Fetal Muscle Leg	muscle
39	chr1:196354400-196354600	Enhancers	HSMMtube	muscle
40	chr1:196354400-196354800	Flanking Active TSS	Fetal Heart	heart
41	chr1:196354800-196355000	Enhancers	Fetal Heart	heart
42	chr1:196355000-196355200	Flanking Active TSS	Fetal Heart	heart
43	chr1:196355000-196356600	Weak transcription	HSMMtube	muscle
44	chr1:196356400-196357400	Enhancers	Osteobl	bone
45	chr1:196356400-196375600	Weak transcription	Fetal Kidney	kidney
46	chr1:196356600-196357400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:196356600-196357400	Enhancers	HSMM	muscle
48	chr1:196356600-196357400	Enhancers	HSMMtube	muscle
49	chr1:196356600-196357400	Enhancers	NH-A	brain
50	chr1:196357400-196362400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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