Variant report

Variant	nsv872825
Chromosome Location	chr1:191868441-191975137
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:22)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:191962436..191963394-chr1:192279940..192280907,5	MCF-7	breast:
2	chr1:191945321..191947013-chr1:191966427..191969143,2	K562	blood:
3	chr1:191864173..191866057-chr1:191874341..191876184,2	K562	blood:
4	chr1:191962363..191963273-chr1:192414655..192415586,4	MCF-7	breast:
5	chr1:191925492..191927826-chr1:191930519..191932628,2	K562	blood:
6	chr1:191940309..191942530-chr1:191943352..191946164,2	K562	blood:
7	chr1:191920379..191922752-chr1:191923416..191925124,2	K562	blood:
8	chr1:191940309..191942530-chr1:191943352..191946164,2	K562	blood:
9	chr1:191925492..191927826-chr1:191930519..191932628,2	K562	blood:
10	chr1:191887988..191890658-chr1:191891458..191893123,2	K562	blood:
11	chr1:191973664..191975283-chr1:191976831..191979604,2	K562	blood:
12	chr1:191956907..191958715-chr1:191960714..191962942,2	K562	blood:
13	chr1:191945321..191947013-chr1:191966427..191969143,2	K562	blood:
14	chr1:191887988..191890658-chr1:191891458..191893123,2	K562	blood:
15	chr1:191931501..191932320-chr18:10905847..10906400,2	MCF-7	breast:
16	chr1:191953599..191956481-chr1:191963231..191965170,2	K562	blood:
17	chr1:191956907..191958715-chr1:191960714..191962942,2	K562	blood:
18	chr1:191920379..191922752-chr1:191923416..191925124,2	K562	blood:
19	chr1:191962303..191963405-chr1:192414719..192415460,4	MCF-7	breast:
20	chr1:191953599..191956481-chr1:191963231..191965170,2	K562	blood:
21	chr1:191962364..191963024-chr1:192207187..192208134,3	MCF-7	breast:
22	chr1:191962409..191963306-chr1:192269925..192270965,3	MCF-7	breast:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UCHL5-7	chr1:191921333-191921542	NONHSAT008526
2	lnc-RGS18-1	chr1:191934452-191934543	XLOC_000507
3	lnc-UCHL5-7	chr1:191924009-191924182	NONHSAT008526
4	lnc-RGS18-1	chr1:191945101-191945214	ENSG00000228215.2
5	lnc-RGS18-1	chr1:191933524-191933619	ENSG00000228215.2
6	lnc-RGS18-1	chr1:191946369-191946489	ENSG00000228215.2
7	lnc-RGS18-8	chr1:191961354-191961438	NONHSAT008525
8	lnc-RGS18-1	chr1:191933524-191933619	XLOC_000507
9	lnc-UCHL5-7	chr1:191919999-191920464	NONHSAT008526
10	lnc-RGS18-1	chr1:191934452-191934543	ENSG00000228215.2
11	lnc-RGS18-8	chr1:191914647-191914758	NONHSAT008525
12	lnc-RGS18-1	chr1:191945101-191945241	XLOC_000507
13	lnc-RGS18-8	chr1:191962585-191962936	NONHSAT008525

No data

Extended variants
information (count: 1800 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1800 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527558605	chr1:191870617-191870618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs9427547	chr1:191870649-191870650	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs564321050	chr1:191870662-191870663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374035461	chr1:191870804-191870805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533152456	chr1:191870815-191870816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552675075	chr1:191870816-191870817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182553142	chr1:191870817-191870818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs377635283	chr1:191870818-191870819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568429734	chr1:191870868-191870869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531751698	chr1:191870879-191870880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373445290	chr1:191870905-191870906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76261314	chr1:191870920-191870921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79726812	chr1:191870938-191870939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138367475	chr1:191870949-191870950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554038785	chr1:191870956-191870957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377566313	chr1:191870974-191870975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs28447614	chr1:191870987-191870988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570748862	chr1:191871024-191871025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539629570	chr1:191871028-191871029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77683503	chr1:191871072-191871073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78580665	chr1:191871110-191871111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541821004	chr1:191871117-191871118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188366242	chr1:191871125-191871126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572067549	chr1:191871138-191871139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs76215722	chr1:191871183-191871184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564359977	chr1:191871202-191871203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534196865	chr1:191871214-191871215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12402779	chr1:191871216-191871217	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs573542800	chr1:191871233-191871234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563013499	chr1:191871264-191871265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531669700	chr1:191871291-191871292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543859591	chr1:191871297-191871298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548563545	chr1:191871333-191871334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192646179	chr1:191871339-191871340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9427810	chr1:191871350-191871351	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs547717777	chr1:191871439-191871440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545150920	chr1:191871440-191871441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560360159	chr1:191871445-191871446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552101427	chr1:191871460-191871461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77655626	chr1:191871488-191871489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76149970	chr1:191871493-191871494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148580860	chr1:191871524-191871525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535243679	chr1:191871529-191871530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555434407	chr1:191871572-191871573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572108733	chr1:191871580-191871581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114462847	chr1:191871591-191871592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558516641	chr1:191871603-191871604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558104842	chr1:191871638-191871639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561168933	chr1:191871667-191871668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577972517	chr1:191871700-191871701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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	22037309	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:191870600-191871200	Enhancers	HMEC	breast
2	chr1:191870800-191871200	Enhancers	NHEK	skin
3	chr1:191870800-191871400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr1:191871000-191871200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr1:191871200-191877600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr1:191875000-191875200	Enhancers	Fetal Lung	lung
7	chr1:191876000-191876400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr1:191876000-191876400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:191876000-191876600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:191876000-191877200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr1:191876200-191876400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:191876400-191877400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:191876400-191877600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:191876600-191876800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:191876800-191878200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:191877400-191878000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:191877400-191878200	ZNF genes & repeats	Dnd41	blood
18	chr1:191877600-191878200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
19	chr1:191877600-191878200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:191878200-191890200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:191879000-191879400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:191879400-191879800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:191882200-191884000	Enhancers	Brain Germinal Matrix	brain
24	chr1:191882400-191883000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr1:191882600-191883200	Enhancers	Fetal Lung	lung
26	chr1:191882800-191883200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:191883000-191885400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr1:191889400-191890800	Enhancers	Dnd41	blood
29	chr1:191889800-191890200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:191889800-191891000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr1:191890200-191891000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:191890600-191890800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:191896600-191897000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:191897000-191907400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr1:191915200-191915800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:191926600-191927000	Enhancers	Fetal Brain Male	brain
37	chr1:191928200-191930200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:191931600-191932400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:191931600-191933600	Enhancers	HSMMtube	muscle
40	chr1:191932000-191932200	Enhancers	HSMM	muscle
41	chr1:191932000-191933800	Enhancers	Primary hematopoietic stem cells	blood
42	chr1:191932000-191934000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:191932200-191932600	Enhancers	Fetal Muscle Leg	muscle
44	chr1:191932200-191932600	Flanking Active TSS	HSMM	muscle
45	chr1:191932200-191932800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:191932200-191933200	Enhancers	NHEK	skin
47	chr1:191932200-191933400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:191932200-191933600	Enhancers	Muscle Satellite Cultured Cells	--
49	chr1:191932200-191933800	Enhancers	Fetal Heart	heart
50	chr1:191932400-191932800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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