Variant report

Variant	nsv1009307
Chromosome Location	chr1:195368381-195726703
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:63)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:63 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:195467909..195469471-chr1:195476696..195479659,2	K562	blood:
2	chr1:195510518..195512657-chr1:195516239..195517820,2	K562	blood:
3	chr1:195561815..195564630-chr1:195565881..195568788,2	K562	blood:
4	chr1:195681664..195684653-chr1:195687722..195689895,2	MCF-7	breast:
5	chr1:195502291..195505198-chr1:195514179..195516495,2	K562	blood:
6	chr1:195605744..195607558-chr1:195610835..195613690,2	K562	blood:
7	chr1:195636006..195638492-chr1:195640156..195642682,2	K562	blood:
8	chr1:195710497..195713809-chr1:195716668..195718919,3	K562	blood:
9	chr1:195679626..195682310-chr1:195683453..195684980,2	K562	blood:
10	chr1:195636006..195638492-chr1:195640156..195642682,2	K562	blood:
11	chr1:195643603..195646404-chr1:195648016..195650352,3	K562	blood:
12	chr1:195574464..195576516-chr1:195657444..195660012,2	K562	blood:
13	chr1:195605744..195607558-chr1:195610835..195613690,2	K562	blood:
14	chr1:195622545..195624939-chr1:195627607..195630301,2	K562	blood:
15	chr1:195720981..195722711-chr1:195730556..195732740,2	K562	blood:
16	chr1:195679087..195683591-chr1:195685074..195688341,4	K562	blood:
17	chr1:195707846..195709349-chr1:195709392..195711387,2	K562	blood:
18	chr1:195710497..195713809-chr1:195716668..195718919,3	K562	blood:
19	chr1:195442462..195444603-chr1:195444759..195446417,2	MCF-7	breast:
20	chr1:195676413..195678428-chr1:195679999..195681988,2	K562	blood:
21	chr1:195467909..195469471-chr1:195476696..195479659,2	K562	blood:
22	chr1:195510518..195512657-chr1:195516239..195517820,2	K562	blood:
23	chr1:195502291..195505198-chr1:195514179..195516495,2	K562	blood:
24	chr1:195676413..195678428-chr1:195679999..195681988,2	K562	blood:
25	chr1:195398482..195401178-chr1:195401687..195404461,3	K562	blood:
26	chr1:195629416..195631503-chr1:195632294..195634517,2	K562	blood:
27	chr1:195707846..195709349-chr1:195709392..195711387,2	K562	blood:
28	chr1:194827832..194830563-chr1:195590853..195593142,2	K562	blood:
29	chr1:195679626..195682310-chr1:195683453..195684980,2	K562	blood:
30	chr1:195438395..195441122-chr1:195442393..195443903,2	K562	blood:
31	chr1:195622545..195624939-chr1:195627607..195630301,2	K562	blood:
32	chr1:195438395..195441122-chr1:195442393..195443903,2	K562	blood:
33	chr1:195723006..195725382-chr1:195733358..195735246,2	K562	blood:
34	chr1:195576625..195578238-chr1:195581661..195583174,2	K562	blood:
35	chr1:195422390..195425246-chr1:195431885..195433646,2	K562	blood:
36	chr1:195553010..195555142-chr1:195558344..195561243,2	K562	blood:
37	chr1:195518670..195520403-chr1:195533153..195535062,2	K562	blood:
38	chr1:195643603..195646404-chr1:195648016..195650352,3	K562	blood:
39	chr1:195385198..195387219-chr1:195683079..195685011,2	K562	blood:
40	chr1:195361839..195365274-chr1:195369633..195372261,3	K562	blood:
41	chr1:195681664..195684653-chr1:195687722..195689895,2	MCF-7	breast:
42	chr1:195561815..195564630-chr1:195565881..195568788,2	K562	blood:
43	chr1:195635730..195637506-chr1:195640643..195642682,2	K562	blood:
44	chr1:195576625..195578238-chr1:195581661..195583174,2	K562	blood:
45	chr1:195474802..195477777-chr1:195478958..195481457,2	K562	blood:
46	chr1:195474802..195477777-chr1:195478958..195481457,2	K562	blood:
47	chr1:195413793..195416066-chr1:195416785..195419173,2	K562	blood:
48	chr1:195442462..195444603-chr1:195444759..195446417,2	MCF-7	breast:
49	chr1:195689328..195691093-chr1:195801582..195803089,2	K562	blood:
50	chr1:195574464..195576516-chr1:195657444..195660012,2	K562	blood:

(count:3 , 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
3	lnc-KCNT2-4	chr1:195436980-195437187	expReg_chr1_18917_-

No data

Extended variants
information (count: 3721 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:3721 , 50 per page) page: 1 2 3 4 5 6 7 ... 75

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187615423	chr1:195383417-195383418	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs140884438	chr1:195383430-195383431	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs552444251	chr1:195383434-195383435	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs555072860	chr1:195383469-195383470	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs377221779	chr1:195383490-195383491	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs527924166	chr1:195383499-195383500	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs74810266	chr1:195383523-195383524	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs192874611	chr1:195383547-195383548	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs558523285	chr1:195383597-195383598	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs12141687	chr1:195383598-195383599	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs184952781	chr1:195383616-195383617	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs567645211	chr1:195383659-195383660	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs559713789	chr1:195383662-195383663	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs574950143	chr1:195383672-195383673	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs150155926	chr1:195383691-195383692	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs561003606	chr1:195383703-195383704	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs531425193	chr1:195383718-195383719	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs570660216	chr1:195383721-195383722	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs138712990	chr1:195383760-195383761	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs564823060	chr1:195383772-195383773	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs80049917	chr1:195403894-195403895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570294473	chr1:195403909-195403910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs139231213	chr1:195403912-195403913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552832182	chr1:195403914-195403915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571078785	chr1:195403950-195403951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535067727	chr1:195403951-195403952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192246433	chr1:195403980-195403981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149755921	chr1:195403985-195403986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs200973337	chr1:195404049-195404050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565721696	chr1:195404067-195404068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144604502	chr1:195404122-195404123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529515998	chr1:195404129-195404130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115523497	chr1:195404165-195404166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183467498	chr1:195404173-195404174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562813422	chr1:195408201-195408202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186624581	chr1:195408225-195408226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551632757	chr1:195408245-195408246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560112930	chr1:195408255-195408256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527447992	chr1:195408304-195408305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549218768	chr1:195408323-195408324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546517946	chr1:195408332-195408333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567706632	chr1:195408349-195408350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561598072	chr1:195408382-195408383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs72740048	chr1:195408402-195408403	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs552283002	chr1:195408426-195408427	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs571640783	chr1:195408500-195408501	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs538924925	chr1:195408551-195408552	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs76087509	chr1:195408566-195408567	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs116387726	chr1:195408578-195408579	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs574119439	chr1:195408611-195408612	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD
Gastric cancer	22014070	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Recurrent pregnancy loss	19789632	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
Neuroblastoma	20406844	CNVD

Chromatin state (count:302 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195383400-195383800	Bivalent Enhancer	Aorta	Aorta
2	chr1:195403800-195404200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:195403800-195404200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:195408200-195408400	Enhancers	Adipose Nuclei	Adipose
5	chr1:195408400-195409000	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr1:195409000-195409400	Enhancers	Adipose Nuclei	Adipose
7	chr1:195414000-195414400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:195416000-195418600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:195416600-195417000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr1:195419800-195420200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:195419800-195421200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr1:195419800-195421400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr1:195420000-195421200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr1:195420000-195421800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:195420000-195422000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr1:195420200-195422000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr1:195420600-195421600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr1:195427000-195427200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:195427200-195427600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:195428000-195428200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:195431600-195432000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:195431800-195432400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:195439800-195440000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:195441200-195441800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:195441200-195441800	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr1:195441400-195441800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:195441400-195441800	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr1:195441600-195442000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:195441800-195444600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:195449400-195449600	Enhancers	Adipose Nuclei	Adipose
31	chr1:195450200-195450400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:195450400-195450600	Active TSS	Adipose Nuclei	Adipose
33	chr1:195450400-195450800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:195450400-195451000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr1:195450400-195451600	Enhancers	Ovary	ovary
36	chr1:195450600-195451000	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr1:195450800-195451000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:195451000-195451800	Enhancers	Adipose Nuclei	Adipose
39	chr1:195461600-195463200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:195478200-195478400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:195478600-195480200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:195480200-195480400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:195480400-195484400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:195481200-195481600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:195481200-195481600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:195484400-195484800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:195486600-195486800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:195487800-195488200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr1:195495400-195496000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr1:195514600-195515400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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