Variant report

Variant	nsv872929
Chromosome Location	chr1:195438036-195546330
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:16)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:195518670..195520403-chr1:195533153..195535062,2	K562	blood:
2	chr1:195474802..195477777-chr1:195478958..195481457,2	K562	blood:
3	chr1:195442462..195444603-chr1:195444759..195446417,2	MCF-7	breast:
4	chr1:195510518..195512657-chr1:195516239..195517820,2	K562	blood:
5	chr1:195467909..195469471-chr1:195476696..195479659,2	K562	blood:
6	chr1:195442462..195444603-chr1:195444759..195446417,2	MCF-7	breast:
7	chr1:195502291..195505198-chr1:195514179..195516495,2	K562	blood:
8	chr1:195467909..195469471-chr1:195476696..195479659,2	K562	blood:
9	chr1:195502291..195505198-chr1:195514179..195516495,2	K562	blood:
10	chr1:195518670..195520403-chr1:195533153..195535062,2	K562	blood:
11	chr1:195438395..195441122-chr1:195442393..195443903,2	K562	blood:
12	chr1:195438395..195441122-chr1:195442393..195443903,2	K562	blood:
13	chr1:195474802..195477777-chr1:195478958..195481457,2	K562	blood:
14	chr1:195514419..195515039-chr5:57606225..57606777,2	MCF-7	breast:
15	chr1:195514637..195515437-chr4:98218446..98219186,2	MCF-7	breast:
16	chr1:195510518..195512657-chr1:195516239..195517820,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CFH-1	chr1:195469301-195469368	XLOC_000511
2	lnc-CFH-1	chr1:195450556-195450708	XLOC_000511

No data

Extended variants
information (count: 699 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:699 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113470842	chr1:195439847-195439848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs112447894	chr1:195439919-195439920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192853435	chr1:195439926-195439927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557281622	chr1:195441367-195441368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs72741722	chr1:195441411-195441412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111866474	chr1:195441446-195441447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75611540	chr1:195441457-195441458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573271722	chr1:195441478-195441479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149220774	chr1:195441486-195441487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561751357	chr1:195441503-195441504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573695886	chr1:195441578-195441579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370555382	chr1:195441613-195441614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544545117	chr1:195441626-195441627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188191206	chr1:195441658-195441659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544700699	chr1:195441663-195441664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182512487	chr1:195441693-195441694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562829272	chr1:195441702-195441703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143389254	chr1:195441715-195441716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551711716	chr1:195441799-195441800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34368312	chr1:195441819-195441820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200604679	chr1:195441841-195441842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187031139	chr1:195441871-195441872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546713539	chr1:195441881-195441882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs202059421	chr1:195441895-195441896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568100985	chr1:195441896-195441897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76853984	chr1:195441901-195441902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78041672	chr1:195441923-195441924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550921462	chr1:195441985-195441986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12240026	chr1:195441994-195441995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539683865	chr1:195442013-195442014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557676181	chr1:195442042-195442043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141513779	chr1:195442049-195442050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534074707	chr1:195442052-195442053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555432074	chr1:195442269-195442270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560793391	chr1:195442282-195442283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs578243417	chr1:195442294-195442295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10801418	chr1:195442299-195442300	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs544182523	chr1:195442304-195442305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146352554	chr1:195442323-195442324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs578200419	chr1:195442342-195442343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191965992	chr1:195442360-195442361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34125535	chr1:195442406-195442407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376635548	chr1:195442407-195442408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183238453	chr1:195442411-195442412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs398049941	chr1:195442414-195442415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12749284	chr1:195442415-195442416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35720531	chr1:195442422-195442423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12750422	chr1:195442432-195442433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12735967	chr1:195442434-195442435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs61816692	chr1:195442462-195442463	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:98)

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
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	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
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Burkitt''s lymphoma	20823134	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Intellectual disability	21811512	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195439800-195440000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:195441200-195441800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:195441200-195441800	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr1:195441400-195441800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:195441400-195441800	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr1:195441600-195442000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:195441800-195444600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:195449400-195449600	Enhancers	Adipose Nuclei	Adipose
9	chr1:195450200-195450400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:195450400-195450600	Active TSS	Adipose Nuclei	Adipose
11	chr1:195450400-195450800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:195450400-195451000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr1:195450400-195451600	Enhancers	Ovary	ovary
14	chr1:195450600-195451000	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr1:195450800-195451000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:195451000-195451800	Enhancers	Adipose Nuclei	Adipose
17	chr1:195461600-195463200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:195478200-195478400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:195478600-195480200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:195480200-195480400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:195480400-195484400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:195481200-195481600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:195481200-195481600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:195484400-195484800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:195486600-195486800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:195487800-195488200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:195495400-195496000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:195514600-195515400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:195517200-195517400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:195518400-195519200	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr1:195519200-195519400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr1:195519400-195520200	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr1:195519600-195519800	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr1:195536800-195537200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:195537200-195537600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:195537600-195538200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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