Variant report

Variant	nsv872757
Chromosome Location	chr1:190351677-190418653
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:190351763..190353522-chr1:190362451..190364673,2	K562	blood:
2	chr1:190378593..190380350-chr1:190390238..190392382,2	K562	blood:
3	chr1:190350737..190353263-chr1:190362738..190364673,2	K562	blood:
4	chr1:190405958..190408213-chr1:190432999..190435234,2	K562	blood:
5	chr1:190342576..190343250-chr1:190405276..190406393,5	MCF-7	breast:
6	chr1:190351763..190353522-chr1:190362451..190364673,2	K562	blood:
7	chr1:190350737..190353263-chr1:190362738..190364673,2	K562	blood:
8	chr1:190378593..190380350-chr1:190390238..190392382,2	K562	blood:

No data

Extended variants
information (count: 1998 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1998 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12724000	chr1:190351677-190351678	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566614799	chr1:190351679-190351680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115071866	chr1:190351734-190351735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559186169	chr1:190351786-190351787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192040865	chr1:190351792-190351793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568694404	chr1:190351808-190351809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537598297	chr1:190351829-190351830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183351253	chr1:190351845-190351846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534435512	chr1:190351853-190351854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187995075	chr1:190351861-190351862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539813606	chr1:190351961-190351962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554472852	chr1:190352005-190352006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112247309	chr1:190352031-190352032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546507057	chr1:190352143-190352144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555981680	chr1:190352175-190352176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148482657	chr1:190352187-190352188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576704989	chr1:190352193-190352194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs34073602	chr1:190352203-190352204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567792301	chr1:190352226-190352227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542310397	chr1:190352235-190352236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192427096	chr1:190352267-190352268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527698269	chr1:190352271-190352272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547447000	chr1:190352286-190352287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371446883	chr1:190352310-190352311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537926742	chr1:190352314-190352315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs75414517	chr1:190352330-190352331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142662690	chr1:190352352-190352353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552043252	chr1:190352407-190352408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568716686	chr1:190352418-190352419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183853671	chr1:190352437-190352438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569850303	chr1:190352465-190352466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114102913	chr1:190352501-190352502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556539557	chr1:190352510-190352511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577919622	chr1:190352547-190352548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs16832306	chr1:190352688-190352689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533866317	chr1:190352708-190352709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368591402	chr1:190352709-190352710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs79989840	chr1:190352750-190352751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576901407	chr1:190352785-190352786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186630925	chr1:190352792-190352793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548315048	chr1:190364802-190364803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559327920	chr1:190364811-190364812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs56037185	chr1:190364915-190364916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561453352	chr1:190365036-190365037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112052013	chr1:190365041-190365042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11810353	chr1:190365096-190365097	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs570984411	chr1:190365103-190365104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374436810	chr1:190365124-190365125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147370224	chr1:190365125-190365126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367703790	chr1:190365128-190365129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Breast cancer	17899364	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
Breast cancer	22522925	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190350400-190352600	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr1:190350600-190352800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:190351200-190352400	Enhancers	Brain Germinal Matrix	brain
4	chr1:190352000-190352200	Enhancers	Brain Anterior Caudate	brain
5	chr1:190364800-190365000	Enhancers	Fetal Intestine Small	intestine
6	chr1:190365000-190380200	Weak transcription	Fetal Intestine Small	intestine
7	chr1:190368200-190369400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:190368600-190369000	Active TSS	GM12878-XiMat	blood
9	chr1:190379000-190379400	Enhancers	Fetal Intestine Large	intestine
10	chr1:190379400-190420000	Weak transcription	Fetal Intestine Large	intestine
11	chr1:190380200-190380400	Enhancers	Fetal Intestine Small	intestine
12	chr1:190383600-190384000	Enhancers	Fetal Heart	heart
13	chr1:190384000-190385400	Weak transcription	Fetal Heart	heart
14	chr1:190385400-190386200	Enhancers	Fetal Heart	heart
15	chr1:190386200-190388200	Weak transcription	Fetal Heart	heart
16	chr1:190397600-190413000	Weak transcription	Fetal Intestine Small	intestine
17	chr1:190407800-190408200	Enhancers	Fetal Heart	heart
18	chr1:190411000-190425600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:190411400-190411800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr1:190411400-190412000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr1:190412200-190412800	Active TSS	Placenta	Placenta
22	chr1:190412800-190413200	Enhancers	Placenta	Placenta
23	chr1:190413000-190414000	ZNF genes & repeats	Fetal Intestine Small	intestine
24	chr1:190414000-190419200	Weak transcription	Fetal Intestine Small	intestine
25	chr1:190414600-190415000	Enhancers	H1 Cell Line	embryonic stem cell
26	chr1:190414600-190415000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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