Variant report

Variant	nsv872821
Chromosome Location	chr1:191755912-191823868
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:191784628..191787361-chr1:191791989..191794077,2	K562	blood:
2	chr1:191764970..191767101-chr1:192222254..192224537,2	K562	blood:
3	chr1:191777063..191778903-chr1:191781034..191782929,2	K562	blood:
4	chr1:191754947..191757355-chr1:191758290..191760631,2	MCF-7	breast:
5	chr1:191754947..191757355-chr1:191758290..191760631,2	MCF-7	breast:
6	chr1:191815192..191816719-chr1:191819191..191822159,2	K562	blood:
7	chr1:191773972..191778173-chr1:191779534..191782112,5	K562	blood:
8	chr1:191788611..191790988-chr1:191796591..191799173,2	MCF-7	breast:
9	chr1:191807170..191809175-chr1:191810201..191811757,2	K562	blood:
10	chr1:190926824..190927388-chr1:191800448..191800967,2	MCF-7	breast:
11	chr1:191784628..191787361-chr1:191791989..191794077,2	K562	blood:
12	chr1:191788611..191790988-chr1:191796591..191799173,2	MCF-7	breast:
13	chr1:191711996..191714385-chr1:191821887..191824152,2	K562	blood:
14	chr1:191773972..191778173-chr1:191779534..191782112,5	K562	blood:
15	chr1:191777063..191778903-chr1:191781034..191782929,2	K562	blood:
16	chr1:191807170..191809175-chr1:191810201..191811757,2	K562	blood:
17	chr1:191802155..191804937-chr1:191853608..191855643,2	K562	blood:
18	chr1:191815192..191816719-chr1:191819191..191822159,2	K562	blood:

No data

Extended variants
information (count: 426 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:426 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs833986	chr1:191755912-191755913	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543968830	chr1:191755914-191755915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530782267	chr1:191756014-191756015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs137936011	chr1:191756034-191756035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570790526	chr1:191756066-191756067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149639784	chr1:191756115-191756116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186441728	chr1:191756116-191756117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566055979	chr1:191756117-191756118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537620451	chr1:191756184-191756185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559011913	chr1:191756264-191756265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542833895	chr1:191756350-191756351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189656117	chr1:191756372-191756373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571940690	chr1:191756405-191756406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537754425	chr1:191756414-191756415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557569074	chr1:191756469-191756470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577148706	chr1:191756470-191756471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536346201	chr1:191756490-191756491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1417130	chr1:191756527-191756528	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs572898330	chr1:191756540-191756541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531890417	chr1:191756566-191756567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544650066	chr1:191756612-191756613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540746463	chr1:191756646-191756647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549701477	chr1:191756647-191756648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558540744	chr1:191756663-191756664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs16833800	chr1:191756690-191756691	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs544127465	chr1:191756692-191756693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560744734	chr1:191756725-191756726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532173003	chr1:191756757-191756758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181891570	chr1:191756780-191756781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540431801	chr1:191756798-191756799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559537945	chr1:191756851-191756852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186919036	chr1:191756877-191756878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9662676	chr1:191756888-191756889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551449912	chr1:191756895-191756896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571701079	chr1:191756952-191756953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147337408	chr1:191756998-191756999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551338697	chr1:191756999-191757000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567971568	chr1:191757038-191757039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536401679	chr1:191757049-191757050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553553850	chr1:191757086-191757087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566413067	chr1:191757189-191757190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191165516	chr1:191757217-191757218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558107506	chr1:191757262-191757263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146615178	chr1:191757267-191757268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549392377	chr1:191757270-191757271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536420550	chr1:191757320-191757321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554817047	chr1:191757339-191757340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574940202	chr1:191757398-191757399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544091725	chr1:191757498-191757499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554402587	chr1:191757518-191757519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:191755400-191757600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr1:191756800-191757000	Enhancers	H9 Cell Line	embryonic stem cell
3	chr1:191757000-191758000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:191757400-191758200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr1:191757600-191758400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr1:191757600-191758400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr1:191757600-191758400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr1:191757600-191758800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr1:191757800-191758400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:191758000-191758400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr1:191758000-191758400	Enhancers	H9 Cell Line	embryonic stem cell
12	chr1:191758000-191758600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr1:191782800-191784200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:191791600-191791800	Enhancers	K562	blood
15	chr1:191791600-191792400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:191791600-191792600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:191791800-191793000	Flanking Active TSS	K562	blood
18	chr1:191791800-191793600	Enhancers	Primary hematopoietic stem cells	blood
19	chr1:191791800-191793600	Enhancers	Dnd41	blood
20	chr1:191792200-191793000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:191792200-191793600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr1:191792200-191793600	Enhancers	HUVEC	blood vessel
23	chr1:191792400-191792800	Enhancers	Fetal Brain Male	brain
24	chr1:191792400-191793200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:191792400-191793400	Enhancers	Fetal Lung	lung
26	chr1:191792600-191793000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:191792600-191793200	Enhancers	Fetal Heart	heart
28	chr1:191792800-191793200	Enhancers	Brain Hippocampus Middle	brain
29	chr1:191792800-191793200	Enhancers	Fetal Stomach	stomach
30	chr1:191792800-191793400	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr1:191792800-191793400	Active TSS	Fetal Brain Male	brain
32	chr1:191793000-191793200	Enhancers	K562	blood
33	chr1:191793000-191793400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:191793000-191793600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:191793200-191793400	Flanking Active TSS	K562	blood
36	chr1:191793200-191793600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:191798000-191798600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:191808600-191809000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:191808800-191809000	Enhancers	NH-A	brain
40	chr1:191808800-191810000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:191809000-191809400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:191809000-191809400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr1:191809000-191809400	Enhancers	Fetal Heart	heart
44	chr1:191809000-191809400	Flanking Active TSS	NH-A	brain
45	chr1:191809000-191809800	Enhancers	Muscle Satellite Cultured Cells	--
46	chr1:191809200-191809600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:191809200-191809800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:191809400-191809600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:191812000-191812800	Enhancers	HUVEC	blood vessel
50	chr1:191813000-191813600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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