Variant report

Variant	nsv548581
Chromosome Location	chr1:191301131-191392523
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:191367727..191369748-chr1:191373061..191374879,2	K562	blood:
2	chr1:191368248..191370695-chr1:191372787..191374561,2	K562	blood:
3	chr1:191334925..191337085-chr1:191337771..191340212,3	K562	blood:
4	chr1:191383700..191385993-chr1:191388618..191391301,2	MCF-7	breast:
5	chr1:191332317..191334180-chr1:191337399..191339945,2	K562	blood:
6	chr1:191311585..191313743-chr1:191315163..191316847,2	K562	blood:
7	chr1:191311585..191313743-chr1:191315163..191316847,2	K562	blood:
8	chr1:191357719..191359865-chr1:191368131..191370717,2	K562	blood:
9	chr1:191368248..191370695-chr1:191372787..191374561,2	K562	blood:
10	chr1:191285545..191288478-chr1:191311947..191313590,2	MCF-7	breast:
11	chr1:191389236..191392425-chr1:191392487..191394511,3	K562	blood:
12	chr1:191367727..191369748-chr1:191373061..191374879,2	K562	blood:
13	chr1:191383700..191385993-chr1:191388618..191391301,2	MCF-7	breast:
14	chr1:191334925..191337085-chr1:191337771..191340212,3	K562	blood:
15	chr1:191391455..191393247-chr1:191395809..191398618,2	K562	blood:
16	chr1:191357719..191359865-chr1:191368131..191370717,2	K562	blood:
17	chr1:191235053..191236832-chr1:191299467..191301857,2	MCF-7	breast:
18	chr1:191332317..191334180-chr1:191337399..191339945,2	K562	blood:
19	chr1:191371943..191373778-chr1:191427254..191429182,2	K562	blood:
20	chr1:191389236..191392425-chr1:191392487..191394511,3	K562	blood:
21	chr1:191389236..191391019-chr1:191392844..191394511,2	K562	blood:

No data

Extended variants
information (count: 859 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:859 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541174782	chr1:191312647-191312648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs193200180	chr1:191312698-191312699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139961198	chr1:191312704-191312705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184171476	chr1:191312729-191312730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564002688	chr1:191312733-191312734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542193441	chr1:191312844-191312845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529558465	chr1:191312873-191312874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549004041	chr1:191312948-191312949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149860332	chr1:191312953-191312954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528040003	chr1:191312954-191312955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551082171	chr1:191312958-191312959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187785607	chr1:191312961-191312962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192347952	chr1:191313059-191313060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567669494	chr1:191313060-191313061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537814357	chr1:191313150-191313151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550335950	chr1:191313176-191313177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567267079	chr1:191313181-191313182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369479585	chr1:191313185-191313186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536145178	chr1:191313214-191313215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553190034	chr1:191313225-191313226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530944231	chr1:191313292-191313293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534984721	chr1:191313300-191313301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs6691841	chr1:191313341-191313342	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs187146760	chr1:191313346-191313347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs578130612	chr1:191313407-191313408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs111232767	chr1:191313451-191313452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550925212	chr1:191313466-191313467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12072606	chr1:191313474-191313475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140675269	chr1:191313483-191313484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1246716	chr1:191313512-191313513	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs148624401	chr1:191313533-191313534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs35658471	chr1:191313535-191313536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143226216	chr1:191313549-191313550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs66906543	chr1:191313550-191313551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12076125	chr1:191313553-191313554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559967544	chr1:191313612-191313613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528089323	chr1:191313618-191313619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183685309	chr1:191313619-191313620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs373461450	chr1:191313621-191313622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539688846	chr1:191313626-191313627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377288921	chr1:191313634-191313635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530515125	chr1:191313679-191313680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1246717	chr1:191313733-191313734	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs567356163	chr1:191313758-191313759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529847845	chr1:191313772-191313773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188273732	chr1:191313794-191313795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566745886	chr1:191313796-191313797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534739742	chr1:191313800-191313801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558182759	chr1:191313802-191313803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572906350	chr1:191313803-191313804	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Lung adenocarcinoma	21935476	CNVD
Glioblastoma multiforme	21510904	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Parathyroid adenoma	20824076	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:191312600-191314000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:191312800-191313400	Enhancers	Placenta	Placenta
3	chr1:191312800-191313600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:191312800-191314000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:191320000-191320400	Enhancers	Esophagus	oesophagus
6	chr1:191334000-191334600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:191334200-191334600	Enhancers	K562	blood
8	chr1:191337800-191338600	Active TSS	Pancreas	Pancrea
9	chr1:191337800-191339600	Active TSS	K562	blood
10	chr1:191338000-191338200	Enhancers	Colon Smooth Muscle	Colon
11	chr1:191338000-191338600	Active TSS	Rectal Smooth Muscle	rectum
12	chr1:191338000-191339800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr1:191338200-191338400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:191338200-191338400	Enhancers	Stomach Smooth Muscle	stomach
15	chr1:191338200-191338800	Active TSS	A549	lung
16	chr1:191338200-191339000	Active TSS	Colon Smooth Muscle	Colon
17	chr1:191338200-191339400	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr1:191338200-191339600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:191338200-191339800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr1:191338400-191339200	Enhancers	H1 Cell Line	embryonic stem cell
21	chr1:191338400-191339400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr1:191338400-191340600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr1:191338600-191339200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr1:191338600-191339600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr1:191338600-191340800	Weak transcription	Pancreas	Pancrea
26	chr1:191339000-191339200	Flanking Active TSS	Colon Smooth Muscle	Colon
27	chr1:191339000-191339800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:191339200-191339400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:191339200-191339400	Flanking Active TSS	Rectal Smooth Muscle	rectum
30	chr1:191339200-191339600	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr1:191339200-191340000	Enhancers	Colon Smooth Muscle	Colon
32	chr1:191339200-191340800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr1:191339400-191339600	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr1:191339400-191339800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:191339400-191340000	Enhancers	Rectal Smooth Muscle	rectum
36	chr1:191339600-191340800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr1:191340000-191340400	Weak transcription	Colon Smooth Muscle	Colon
38	chr1:191340000-191340400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr1:191340400-191341400	Enhancers	Colon Smooth Muscle	Colon
40	chr1:191340400-191341400	Enhancers	Rectal Smooth Muscle	rectum
41	chr1:191340600-191340800	Enhancers	Stomach Smooth Muscle	stomach
42	chr1:191340800-191341200	Enhancers	Fetal Lung	lung
43	chr1:191340800-191341200	Enhancers	Gastric	stomach
44	chr1:191340800-191341200	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr1:191340800-191341400	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr1:191340800-191341400	Enhancers	Pancreas	Pancrea
47	chr1:191341000-191341400	Enhancers	Fetal Muscle Leg	muscle
48	chr1:191341200-191341400	Enhancers	Stomach Smooth Muscle	stomach
49	chr1:191345000-191353800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:191346800-191347400	Weak transcription	H1 Cell Line	embryonic stem cell

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