Variant report

Variant	nsv548583
Chromosome Location	chr1:191321186-191430223
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:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:191332317..191334180-chr1:191337399..191339945,2	K562	blood:
2	chr1:191389236..191392425-chr1:191392487..191394511,3	K562	blood:
3	chr1:191421290..191423528-chr1:191424366..191426251,2	K562	blood:
4	chr1:191332317..191334180-chr1:191337399..191339945,2	K562	blood:
5	chr1:191371943..191373778-chr1:191427254..191429182,2	K562	blood:
6	chr1:191426971..191427787-chr8:122736326..122736882,2	MCF-7	breast:
7	chr1:191357719..191359865-chr1:191368131..191370717,2	K562	blood:
8	chr1:191401913..191403539-chr1:191421067..191423069,2	K562	blood:
9	chr1:191368248..191370695-chr1:191372787..191374561,2	K562	blood:
10	chr1:191371943..191373778-chr1:191427254..191429182,2	K562	blood:
11	chr1:191420711..191422302-chr1:191475055..191477121,2	K562	blood:
12	chr1:191389236..191392425-chr1:191392487..191394511,3	K562	blood:
13	chr1:191389236..191391019-chr1:191392844..191394511,2	K562	blood:
14	chr1:191334925..191337085-chr1:191337771..191340212,3	K562	blood:
15	chr1:191389236..191391019-chr1:191392844..191394511,2	K562	blood:
16	chr1:191391455..191393247-chr1:191395809..191398618,2	K562	blood:
17	chr1:191424584..191426458-chr1:191426540..191428604,2	MCF-7	breast:
18	chr1:191367727..191369748-chr1:191373061..191374879,2	K562	blood:
19	chr1:191383700..191385993-chr1:191388618..191391301,2	MCF-7	breast:
20	chr1:191357719..191359865-chr1:191368131..191370717,2	K562	blood:
21	chr1:191334925..191337085-chr1:191337771..191340212,3	K562	blood:
22	chr1:191367727..191369748-chr1:191373061..191374879,2	K562	blood:
23	chr1:191383700..191385993-chr1:191388618..191391301,2	MCF-7	breast:
24	chr1:191391455..191393247-chr1:191395809..191398618,2	K562	blood:
25	chr1:191421290..191423528-chr1:191424366..191426251,2	K562	blood:
26	chr1:191368248..191370695-chr1:191372787..191374561,2	K562	blood:
27	chr1:191401913..191403539-chr1:191421067..191423069,2	K562	blood:
28	chr1:191424584..191426458-chr1:191426540..191428604,2	MCF-7	breast:

No data

Extended variants
information (count: 858 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:858 , 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	rs547160372	chr1:191334010-191334011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568518314	chr1:191334063-191334064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535969218	chr1:191334067-191334068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565633139	chr1:191334084-191334085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1246678	chr1:191334112-191334113	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs72742363	chr1:191334129-191334130	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs115752707	chr1:191334151-191334152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188269498	chr1:191334253-191334254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs180835904	chr1:191334254-191334255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140908695	chr1:191334270-191334271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536037647	chr1:191334300-191334301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568947526	chr1:191334306-191334307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556145057	chr1:191334317-191334318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149714024	chr1:191334344-191334345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541323651	chr1:191334400-191334401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564113593	chr1:191334401-191334402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145584466	chr1:191334450-191334451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543147856	chr1:191334465-191334466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376970356	chr1:191334530-191334531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs79250554	chr1:191334566-191334567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140271968	chr1:191334587-191334588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545202796	chr1:191337820-191337821	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs565014191	chr1:191337863-191337864	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs192006860	chr1:191337896-191337897	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs75492967	chr1:191337996-191337997	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs144607547	chr1:191338030-191338031	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs561106693	chr1:191338074-191338075	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs115584472	chr1:191338141-191338142	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs569006845	chr1:191338221-191338222	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs376683042	chr1:191338272-191338273	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs547245592	chr1:191338327-191338328	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs566362137	chr1:191338343-191338344	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs1745402	chr1:191338392-191338393	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs552329758	chr1:191338411-191338412	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371832135	chr1:191338429-191338430	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34517284	chr1:191338430-191338431	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568963335	chr1:191338487-191338488	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539489331	chr1:191338491-191338492	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558143296	chr1:191338601-191338602	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537900400	chr1:191338627-191338628	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566708063	chr1:191338636-191338637	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183406948	chr1:191338653-191338654	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574546701	chr1:191338678-191338679	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533857395	chr1:191338688-191338689	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144694494	chr1:191338706-191338707	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369671204	chr1:191338724-191338725	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373320007	chr1:191338725-191338726	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573182357	chr1:191338755-191338756	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545379266	chr1:191338762-191338763	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558669603	chr1:191338799-191338800	Enhancers Active TSS Weak transcription	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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:191334000-191334600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:191334200-191334600	Enhancers	K562	blood
3	chr1:191337800-191338600	Active TSS	Pancreas	Pancrea
4	chr1:191337800-191339600	Active TSS	K562	blood
5	chr1:191338000-191338200	Enhancers	Colon Smooth Muscle	Colon
6	chr1:191338000-191338600	Active TSS	Rectal Smooth Muscle	rectum
7	chr1:191338000-191339800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr1:191338200-191338400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:191338200-191338400	Enhancers	Stomach Smooth Muscle	stomach
10	chr1:191338200-191338800	Active TSS	A549	lung
11	chr1:191338200-191339000	Active TSS	Colon Smooth Muscle	Colon
12	chr1:191338200-191339400	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr1:191338200-191339600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr1:191338200-191339800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr1:191338400-191339200	Enhancers	H1 Cell Line	embryonic stem cell
16	chr1:191338400-191339400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr1:191338400-191340600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:191338600-191339200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:191338600-191339600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr1:191338600-191340800	Weak transcription	Pancreas	Pancrea
21	chr1:191339000-191339200	Flanking Active TSS	Colon Smooth Muscle	Colon
22	chr1:191339000-191339800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:191339200-191339400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:191339200-191339400	Flanking Active TSS	Rectal Smooth Muscle	rectum
25	chr1:191339200-191339600	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr1:191339200-191340000	Enhancers	Colon Smooth Muscle	Colon
27	chr1:191339200-191340800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr1:191339400-191339600	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr1:191339400-191339800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:191339400-191340000	Enhancers	Rectal Smooth Muscle	rectum
31	chr1:191339600-191340800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr1:191340000-191340400	Weak transcription	Colon Smooth Muscle	Colon
33	chr1:191340000-191340400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr1:191340400-191341400	Enhancers	Colon Smooth Muscle	Colon
35	chr1:191340400-191341400	Enhancers	Rectal Smooth Muscle	rectum
36	chr1:191340600-191340800	Enhancers	Stomach Smooth Muscle	stomach
37	chr1:191340800-191341200	Enhancers	Fetal Lung	lung
38	chr1:191340800-191341200	Enhancers	Gastric	stomach
39	chr1:191340800-191341200	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr1:191340800-191341400	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr1:191340800-191341400	Enhancers	Pancreas	Pancrea
42	chr1:191341000-191341400	Enhancers	Fetal Muscle Leg	muscle
43	chr1:191341200-191341400	Enhancers	Stomach Smooth Muscle	stomach
44	chr1:191345000-191353800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:191346800-191347400	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr1:191347200-191347800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:191347400-191348000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
48	chr1:191348000-191348800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr1:191348800-191349000	Enhancers	H1 Cell Line	embryonic stem cell
50	chr1:191348800-191351000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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