Variant report

Variant	nsv1010682
Chromosome Location	chr1:191369675-191590314
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:71)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:71 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:191461107..191464086-chr1:191468254..191471199,3	K562	blood:
2	chr1:191507997..191509921-chr1:191510626..191513228,2	MCF-7	breast:
3	chr1:191433727..191435829-chr1:191471858..191473427,2	K562	blood:
4	chr1:191391455..191393247-chr1:191395809..191398618,2	K562	blood:
5	chr1:191502483..191504253-chr17:56707440..56709288,2	MCF-7	breast:
6	chr1:191421290..191423528-chr1:191424366..191426251,2	K562	blood:
7	chr1:191450148..191453626-chr1:191453943..191457136,3	K562	blood:
8	chr1:191160823..191162731-chr1:191477898..191480311,2	K562	blood:
9	chr1:191506403..191509431-chr1:191514929..191518614,3	K562	blood:
10	chr1:191576250..191579114-chr1:191581438..191583705,3	MCF-7	breast:
11	chr1:191501593..191503372-chr1:191505633..191507558,2	K562	blood:
12	chr1:191391455..191393247-chr1:191395809..191398618,2	K562	blood:
13	chr1:191461107..191464086-chr1:191468254..191471199,3	K562	blood:
14	chr1:191446579..191448734-chr1:191448967..191451024,2	MCF-7	breast:
15	chr1:191371943..191373778-chr1:191427254..191429182,2	K562	blood:
16	chr1:191531038..191532932-chr1:191533224..191534815,2	MCF-7	breast:
17	chr1:191570809..191573579-chr1:191576592..191579208,2	MCF-7	breast:
18	chr1:191455290..191457922-chr1:191460809..191463001,2	MCF-7	breast:
19	chr1:191424584..191426458-chr1:191426540..191428604,2	MCF-7	breast:
20	chr1:191389236..191392425-chr1:191392487..191394511,3	K562	blood:
21	chr1:191426971..191427787-chr8:122736326..122736882,2	MCF-7	breast:
22	chr1:191466190..191469106-chr1:191473353..191475090,2	K562	blood:
23	chr1:191506403..191509431-chr1:191514929..191518614,3	K562	blood:
24	chr1:191473798..191475673-chr1:191477416..191479078,2	K562	blood:
25	chr1:191507022..191509468-chr1:191509511..191511062,2	K562	blood:
26	chr1:191530245..191535067-chr1:191535376..191537861,5	K562	blood:
27	chr1:191446579..191448734-chr1:191448967..191451024,2	MCF-7	breast:
28	chr1:191401913..191403539-chr1:191421067..191423069,2	K562	blood:
29	chr1:191450148..191453626-chr1:191453943..191457136,3	K562	blood:
30	chr1:191476619..191478729-chr1:191489630..191491476,2	K562	blood:
31	chr1:191570809..191573579-chr1:191576592..191579208,2	MCF-7	breast:
32	chr1:191576107..191578198-chr1:191578864..191580845,2	K562	blood:
33	chr1:191446749..191449835-chr1:191450213..191452486,3	K562	blood:
34	chr1:191466190..191469106-chr1:191473353..191475090,2	K562	blood:
35	chr1:191389236..191391019-chr1:191392844..191394511,2	K562	blood:
36	chr1:191531038..191532932-chr1:191533224..191534815,2	MCF-7	breast:
37	chr1:191473798..191475673-chr1:191477416..191479078,2	K562	blood:
38	chr1:191389236..191391019-chr1:191392844..191394511,2	K562	blood:
39	chr1:76262387..76264305-chr1:191498781..191500281,2	K562	blood:
40	chr1:191455290..191457922-chr1:191460809..191463001,2	MCF-7	breast:
41	chr1:191488913..191492156-chr1:191496270..191498298,3	MCF-7	breast:
42	chr1:191590246..191592649-chr1:191593874..191595968,2	MCF-7	breast:
43	chr1:191433727..191435829-chr1:191471858..191473427,2	K562	blood:
44	chr1:191368248..191370695-chr1:191372787..191374561,2	K562	blood:
45	chr1:191532249..191535067-chr1:191535515..191537308,2	K562	blood:
46	chr1:191424584..191426458-chr1:191426540..191428604,2	MCF-7	breast:
47	chr1:191367727..191369748-chr1:191373061..191374879,2	K562	blood:
48	chr1:191576250..191579114-chr1:191581438..191583705,3	MCF-7	breast:
49	chr1:191446749..191449835-chr1:191450213..191452486,3	K562	blood:
50	chr1:191371943..191373778-chr1:191427254..191429182,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGS18-9	chr1:191586857-191586992	NONHSAT008519
2	lnc-RGS18-9	chr1:191540498-191540691	NONHSAT008519
3	lnc-RGS18-9	chr1:191584886-191585028	NONHSAT008519
4	lnc-FAM5C-13	chr1:191487184-191487423	predAs_chen_BG220711_1
5	lnc-RGS18-10	chr1:191494155-191494355	expReg_chr1_21196_+

No data

Variant related genes	Relation type
ENSG00000271187	chromatin interactions
ENSG00000057468	chromatin interactions
ENSG00000212195	chromatin interactions

Extended variants
information (count: 3294 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:3294 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549188524	chr1:191369714-191369715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565720990	chr1:191369802-191369803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534956086	chr1:191369965-191369966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558078353	chr1:191370055-191370056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577962924	chr1:191370091-191370092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539848669	chr1:191370120-191370121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191303651	chr1:191370230-191370231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576511490	chr1:191370237-191370238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541946385	chr1:191370256-191370257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562350378	chr1:191370260-191370261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572550784	chr1:191370287-191370288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113825942	chr1:191370293-191370294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148408067	chr1:191370298-191370299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184289872	chr1:191370402-191370403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189652728	chr1:191370414-191370415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192860793	chr1:191370432-191370433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549385378	chr1:191370520-191370521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371896210	chr1:191370616-191370617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79430649	chr1:191370625-191370626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529017882	chr1:191370706-191370707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548792095	chr1:191370743-191370744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565910113	chr1:191370807-191370808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572671186	chr1:191370845-191370846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34819506	chr1:191370846-191370847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79978103	chr1:191370856-191370857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs77924845	chr1:191370857-191370858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs397734139	chr1:191370859-191370860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200005594	chr1:191370860-191370861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370415817	chr1:191370872-191370873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551560356	chr1:191370882-191370883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571589317	chr1:191370940-191370941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184678937	chr1:191370972-191370973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189222009	chr1:191370986-191370987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs141973329	chr1:191371009-191371010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150694553	chr1:191371046-191371047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569943395	chr1:191371157-191371158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535992391	chr1:191371216-191371217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181581676	chr1:191371231-191371232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572463604	chr1:191371237-191371238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186440442	chr1:191371323-191371324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557900793	chr1:191371377-191371378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140200897	chr1:191371389-191371390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543691398	chr1:191371412-191371413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115683497	chr1:191371425-191371426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs12027460	chr1:191371460-191371461	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs542559947	chr1:191371474-191371475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143794783	chr1:191371525-191371526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528157375	chr1:191371527-191371528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs6428057	chr1:191371535-191371536	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs189306526	chr1:191371543-191371544	Weak transcription 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
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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:161 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:191367200-191374800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:191370800-191371600	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr1:191378200-191378600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:191401800-191402000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr1:191401800-191402400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr1:191421800-191422200	Enhancers	K562	blood
7	chr1:191422400-191423000	Active TSS	K562	blood
8	chr1:191422600-191423000	Enhancers	Dnd41	blood
9	chr1:191429400-191429800	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr1:191437800-191438000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:191439200-191439400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:191439200-191439800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr1:191439400-191439600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:191439600-191439800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:191439600-191440000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr1:191439600-191440000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr1:191439600-191440400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:191439800-191441000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:191441000-191443000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:191453000-191453600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:191453000-191453800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:191457800-191458800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:191460600-191461000	Enhancers	Brain Cingulate Gyrus	brain
24	chr1:191460800-191461000	Enhancers	Brain Hippocampus Middle	brain
25	chr1:191461000-191461800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr1:191461000-191462000	Weak transcription	Brain Hippocampus Middle	brain
27	chr1:191461800-191462200	Enhancers	Brain Cingulate Gyrus	brain
28	chr1:191462000-191462200	Enhancers	Brain Hippocampus Middle	brain
29	chr1:191465000-191467800	Weak transcription	HUVEC	blood vessel
30	chr1:191465200-191465600	Enhancers	Fetal Heart	heart
31	chr1:191465200-191465600	Enhancers	K562	blood
32	chr1:191467600-191468200	Enhancers	A549	lung
33	chr1:191467800-191468200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:191467800-191468200	Enhancers	HUVEC	blood vessel
35	chr1:191476200-191476600	Active TSS	K562	blood
36	chr1:191477200-191478000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:191477400-191477800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:191477800-191481400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:191488600-191489600	Active TSS	A549	lung
40	chr1:191489600-191490000	Flanking Active TSS	A549	lung
41	chr1:191490000-191492000	Enhancers	A549	lung
42	chr1:191496800-191498200	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr1:191497400-191497800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:191497400-191497800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:191497400-191497800	Enhancers	Colon Smooth Muscle	Colon
46	chr1:191497400-191497800	Enhancers	Rectal Smooth Muscle	rectum
47	chr1:191500000-191500600	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr1:191501200-191501800	Enhancers	Fetal Heart	heart
49	chr1:191502400-191502800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:191502400-191502800	Active TSS	Gastric	stomach

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