Variant report

Variant	nsv872804
Chromosome Location	chr1:191406367-191804265
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:112)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:112 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr1:191466190..191469106-chr1:191473353..191475090,2	K562	blood:
2	chr1:191501593..191503372-chr1:191505633..191507558,2	K562	blood:
3	chr1:191424584..191426458-chr1:191426540..191428604,2	MCF-7	breast:
4	chr1:191488913..191492156-chr1:191496270..191498298,3	MCF-7	breast:
5	chr1:191592940..191595945-chr1:191597443..191599181,3	K562	blood:
6	chr1:191716548..191718884-chr1:191723444..191727562,3	K562	blood:
7	chr1:191666098..191668261-chr1:191671112..191673140,2	MCF-7	breast:
8	chr1:191773972..191778173-chr1:191779534..191782112,5	K562	blood:
9	chr1:191764970..191767101-chr1:192222254..192224537,2	K562	blood:
10	chr1:191728187..191729720-chr1:191733696..191735849,2	K562	blood:
11	chr1:191621018..191625151-chr1:191627413..191631107,4	K562	blood:
12	chr1:191667560..191670063-chr1:191670444..191673438,2	MCF-7	breast:
13	chr1:191747805..191749831-chr1:191750174..191752382,2	MCF-7	breast:
14	chr1:191531038..191532932-chr1:191533224..191534815,2	MCF-7	breast:
15	chr1:191784628..191787361-chr1:191791989..191794077,2	K562	blood:
16	chr1:191666098..191668261-chr1:191671112..191673140,2	MCF-7	breast:
17	chr1:191616602..191619321-chr1:191633804..191636058,2	K562	blood:
18	chr1:191145894..191148873-chr1:191433449..191436245,2	K562	blood:
19	chr1:191576107..191578198-chr1:191578864..191580845,2	K562	blood:
20	chr1:191530245..191535067-chr1:191535376..191537861,5	K562	blood:
21	chr1:191667560..191670063-chr1:191670444..191673438,2	MCF-7	breast:
22	chr1:191592940..191595945-chr1:191597443..191599181,3	K562	blood:
23	chr1:191658649..191660238-chr1:191662141..191664711,2	K562	blood:
24	chr1:191532249..191535067-chr1:191535515..191537308,2	K562	blood:
25	chr1:190926824..190927388-chr1:191800448..191800967,2	MCF-7	breast:
26	chr1:191590246..191592649-chr1:191593874..191595968,2	MCF-7	breast:
27	chr1:191421290..191423528-chr1:191424366..191426251,2	K562	blood:
28	chr1:191580900..191582708-chr1:191592956..191594970,2	K562	blood:
29	chr1:191421290..191423528-chr1:191424366..191426251,2	K562	blood:
30	chr1:191446749..191449835-chr1:191450213..191452486,3	K562	blood:
31	chr1:191446749..191449835-chr1:191450213..191452486,3	K562	blood:
32	chr1:191670842..191673088-chr1:191683074..191685461,2	MCF-7	breast:
33	chr1:191533124..191535603-chr12:13731082..13733492,2	MCF-7	breast:
34	chr1:191420711..191422302-chr1:191475055..191477121,2	K562	blood:
35	chr1:191711996..191714385-chr1:191821887..191824152,2	K562	blood:
36	chr1:191426971..191427787-chr8:122736326..122736882,2	MCF-7	breast:
37	chr1:191590246..191592649-chr1:191593874..191595968,2	MCF-7	breast:
38	chr1:191446579..191448734-chr1:191448967..191451024,2	MCF-7	breast:
39	chr1:191708525..191710416-chr1:191713003..191715158,2	K562	blood:
40	chr1:191502483..191504253-chr17:56707440..56709288,2	MCF-7	breast:
41	chr1:191473798..191475673-chr1:191477416..191479078,2	K562	blood:
42	chr1:191719906..191721818-chr1:191723940..191725758,2	K562	blood:
43	chr1:191618527..191620299-chr1:191625178..191627507,2	K562	blood:
44	chr1:191708525..191710416-chr1:191713003..191715158,2	K562	blood:
45	chr1:191656150..191658187-chr1:191658870..191661346,2	K562	blood:
46	chr1:191616602..191619321-chr1:191633804..191636058,2	K562	blood:
47	chr1:191476619..191478729-chr1:191489630..191491476,2	K562	blood:
48	chr1:191576107..191578198-chr1:191578864..191580845,2	K562	blood:
49	chr1:191656150..191658187-chr1:191658870..191661346,2	K562	blood:
50	chr1:191720033..191721818-chr1:191724258..191727232,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGS18-9	chr1:191584886-191585028	NONHSAT008519
2	lnc-RGS18-9	chr1:191601401-191601706	NONHSAT008519
3	lnc-FAM5C-3	chr1:191686588-191686611	XLOC_001131
4	lnc-RGS18-9	chr1:191586857-191586992	NONHSAT008519
5	lnc-FAM5C-13	chr1:191487184-191487423	predAs_chen_BG220711_1
6	lnc-RGS18-9	chr1:191540498-191540691	NONHSAT008519
7	lnc-FAM5C-3	chr1:191685359-191685577	XLOC_001131
8	lnc-RGS18-10	chr1:191494155-191494355	expReg_chr1_21196_+

No data

Variant related genes	Relation type
ENSG00000057468	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000271187	chromatin interactions
ARSB	miRNA target sites
G6PC3	miRNA target sites

Extended variants
information (count: 5611 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:5611 , 50 per page) page: 1 2 3 4 5 6 7 ... 113

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568648688	chr1:191421806-191421807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537424732	chr1:191421829-191421830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554574783	chr1:191421840-191421841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs17397806	chr1:191421857-191421858	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs181435454	chr1:191421859-191421860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540530626	chr1:191421879-191421880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140130223	chr1:191421883-191421884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577109663	chr1:191421886-191421887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186542128	chr1:191421906-191421907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191596417	chr1:191421911-191421912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372291409	chr1:191422007-191422008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531054759	chr1:191422130-191422131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376704686	chr1:191422400-191422401	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs537964274	chr1:191422419-191422420	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs371967807	chr1:191422435-191422436	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs568051493	chr1:191422437-191422438	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs533600829	chr1:191422448-191422449	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs534674776	chr1:191422450-191422451	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs149977674	chr1:191422504-191422505	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs145202870	chr1:191422557-191422558	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs76279197	chr1:191422573-191422574	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs574361029	chr1:191422590-191422591	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs575614816	chr1:191422605-191422606	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs565961999	chr1:191422614-191422615	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs544699472	chr1:191422689-191422690	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs561078357	chr1:191422710-191422711	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs111510660	chr1:191422733-191422734	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs374888295	chr1:191422767-191422768	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs182748907	chr1:191422791-191422792	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs488896	chr1:191422804-191422805	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs534585379	chr1:191422823-191422824	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs540269861	chr1:191422852-191422853	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs374901073	chr1:191422885-191422886	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs557631992	chr1:191422900-191422901	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs575476307	chr1:191422941-191422942	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs545998172	chr1:191422943-191422944	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs560394128	chr1:191422958-191422959	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs545485291	chr1:191429407-191429408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565280148	chr1:191429409-191429410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182618415	chr1:191429457-191429458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113168924	chr1:191429472-191429473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1507828	chr1:191429504-191429505	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
43	rs113709639	chr1:191429546-191429547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs375651259	chr1:191429585-191429586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530348723	chr1:191429614-191429615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546755656	chr1:191429657-191429658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556627941	chr1:191429664-191429665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532615784	chr1:191429725-191429726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552241691	chr1:191429749-191429750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs111688623	chr1:191429759-191429760	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:344 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:191421800-191422200	Enhancers	K562	blood
2	chr1:191422400-191423000	Active TSS	K562	blood
3	chr1:191422600-191423000	Enhancers	Dnd41	blood
4	chr1:191429400-191429800	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr1:191437800-191438000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr1:191439200-191439400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:191439200-191439800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr1:191439400-191439600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:191439600-191439800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:191439600-191440000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:191439600-191440000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr1:191439600-191440400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:191439800-191441000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:191441000-191443000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:191453000-191453600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:191453000-191453800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:191457800-191458800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:191460600-191461000	Enhancers	Brain Cingulate Gyrus	brain
19	chr1:191460800-191461000	Enhancers	Brain Hippocampus Middle	brain
20	chr1:191461000-191461800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:191461000-191462000	Weak transcription	Brain Hippocampus Middle	brain
22	chr1:191461800-191462200	Enhancers	Brain Cingulate Gyrus	brain
23	chr1:191462000-191462200	Enhancers	Brain Hippocampus Middle	brain
24	chr1:191465000-191467800	Weak transcription	HUVEC	blood vessel
25	chr1:191465200-191465600	Enhancers	Fetal Heart	heart
26	chr1:191465200-191465600	Enhancers	K562	blood
27	chr1:191467600-191468200	Enhancers	A549	lung
28	chr1:191467800-191468200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:191467800-191468200	Enhancers	HUVEC	blood vessel
30	chr1:191476200-191476600	Active TSS	K562	blood
31	chr1:191477200-191478000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:191477400-191477800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:191477800-191481400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:191488600-191489600	Active TSS	A549	lung
35	chr1:191489600-191490000	Flanking Active TSS	A549	lung
36	chr1:191490000-191492000	Enhancers	A549	lung
37	chr1:191496800-191498200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr1:191497400-191497800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:191497400-191497800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:191497400-191497800	Enhancers	Colon Smooth Muscle	Colon
41	chr1:191497400-191497800	Enhancers	Rectal Smooth Muscle	rectum
42	chr1:191500000-191500600	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr1:191501200-191501800	Enhancers	Fetal Heart	heart
44	chr1:191502400-191502800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:191502400-191502800	Active TSS	Gastric	stomach
46	chr1:191503000-191503400	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr1:191503000-191503600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:191503000-191503800	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr1:191503200-191503600	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr1:191503200-191503600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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