Variant report

Variant	nsv872932
Chromosome Location	chr1:195447286-195736070
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:61)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:195643603..195646404-chr1:195648016..195650352,3	K562	blood:
2	chr1:195622545..195624939-chr1:195627607..195630301,2	K562	blood:
3	chr1:195635730..195637506-chr1:195640643..195642682,2	K562	blood:
4	chr1:195679087..195683591-chr1:195685074..195688341,4	K562	blood:
5	chr1:195676413..195678428-chr1:195679999..195681988,2	K562	blood:
6	chr1:195728301..195731398-chr1:195733712..195736941,3	MCF-7	breast:
7	chr1:195574464..195576516-chr1:195657444..195660012,2	K562	blood:
8	chr1:195679626..195682310-chr1:195683453..195684980,2	K562	blood:
9	chr1:195510518..195512657-chr1:195516239..195517820,2	K562	blood:
10	chr1:195728899..195731213-chr1:195731741..195733671,2	K562	blood:
11	chr1:195518670..195520403-chr1:195533153..195535062,2	K562	blood:
12	chr1:195707846..195709349-chr1:195709392..195711387,2	K562	blood:
13	chr1:195679087..195683591-chr1:195685074..195688341,4	K562	blood:
14	chr1:195681664..195684653-chr1:195687722..195689895,2	MCF-7	breast:
15	chr1:195574464..195576516-chr1:195657444..195660012,2	K562	blood:
16	chr1:195681664..195684653-chr1:195687722..195689895,2	MCF-7	breast:
17	chr1:195710497..195713809-chr1:195716668..195718919,3	K562	blood:
18	chr1:195735286..195738996-chr1:195739915..195743244,3	K562	blood:
19	chr1:195514637..195515437-chr4:98218446..98219186,2	MCF-7	breast:
20	chr1:195561815..195564630-chr1:195565881..195568788,2	K562	blood:
21	chr1:195720981..195722711-chr1:195730556..195732740,2	K562	blood:
22	chr1:195467909..195469471-chr1:195476696..195479659,2	K562	blood:
23	chr1:195643603..195646404-chr1:195648016..195650352,3	K562	blood:
24	chr1:195676413..195678428-chr1:195679999..195681988,2	K562	blood:
25	chr1:195510518..195512657-chr1:195516239..195517820,2	K562	blood:
26	chr1:195728301..195731398-chr1:195733712..195736941,3	MCF-7	breast:
27	chr1:195385198..195387219-chr1:195683079..195685011,2	K562	blood:
28	chr1:195553010..195555142-chr1:195558344..195561243,2	K562	blood:
29	chr1:195474802..195477777-chr1:195478958..195481457,2	K562	blood:
30	chr1:195576625..195578238-chr1:195581661..195583174,2	K562	blood:
31	chr1:195635730..195637506-chr1:195640643..195642682,2	K562	blood:
32	chr1:194827832..194830563-chr1:195590853..195593142,2	K562	blood:
33	chr1:195720981..195722711-chr1:195730556..195732740,2	K562	blood:
34	chr1:195629416..195631503-chr1:195632294..195634517,2	K562	blood:
35	chr1:195707846..195709349-chr1:195709392..195711387,2	K562	blood:
36	chr1:195502291..195505198-chr1:195514179..195516495,2	K562	blood:
37	chr1:195605744..195607558-chr1:195610835..195613690,2	K562	blood:
38	chr1:195729478..195731927-chr1:195733670..195735429,2	K562	blood:
39	chr1:195729478..195731927-chr1:195733670..195735429,2	K562	blood:
40	chr1:195723006..195725382-chr1:195733358..195735246,2	K562	blood:
41	chr1:195474802..195477777-chr1:195478958..195481457,2	K562	blood:
42	chr1:195679626..195682310-chr1:195683453..195684980,2	K562	blood:
43	chr1:195605744..195607558-chr1:195610835..195613690,2	K562	blood:
44	chr1:195518670..195520403-chr1:195533153..195535062,2	K562	blood:
45	chr1:195467909..195469471-chr1:195476696..195479659,2	K562	blood:
46	chr1:195561815..195564630-chr1:195565881..195568788,2	K562	blood:
47	chr1:195728899..195731213-chr1:195731741..195733671,2	K562	blood:
48	chr1:195689328..195691093-chr1:195801582..195803089,2	K562	blood:
49	chr1:195723006..195725382-chr1:195733358..195735246,2	K562	blood:
50	chr1:195502291..195505198-chr1:195514179..195516495,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNT2-2	chr1:195732379-195732530	NONHSAT008590
2	lnc-CFH-1	chr1:195450556-195450708	XLOC_000511
3	lnc-KCNT2-2	chr1:195730397-195730538	NONHSAT008590
4	lnc-CFH-1	chr1:195469301-195469368	XLOC_000511
5	lnc-KCNT2-2	chr1:195727481-195728588	NONHSAT008590

No data

Extended variants
information (count: 3476 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:3476 , 50 per page) page: 1 2 3 4 5 6 7 ... 70

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11808994	chr1:195450219-195450220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187770291	chr1:195450292-195450293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142892377	chr1:195450328-195450329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550337844	chr1:195450329-195450330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs71152376	chr1:195450340-195450341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370252294	chr1:195450371-195450372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6678481	chr1:195450375-195450376	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs534334005	chr1:195450400-195450401	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs547783724	chr1:195450421-195450422	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs566391302	chr1:195450436-195450437	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs536906045	chr1:195450469-195450470	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs569134478	chr1:195450488-195450489	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs555148353	chr1:195450517-195450518	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs576558325	chr1:195450521-195450522	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs538282864	chr1:195450535-195450536	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs537986977	chr1:195450544-195450545	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs555971993	chr1:195450580-195450581	Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
18	rs577248182	chr1:195450641-195450642	Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
19	rs544628832	chr1:195450642-195450643	Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
20	rs190638086	chr1:195450732-195450733	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs572021157	chr1:195450751-195450752	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs182884203	chr1:195450782-195450783	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs542550866	chr1:195450790-195450791	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs561174585	chr1:195450841-195450842	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs547598245	chr1:195450903-195450904	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs531387390	chr1:195450946-195450947	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs543922527	chr1:195450976-195450977	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs143886630	chr1:195450990-195450991	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs34299707	chr1:195451037-195451038	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs12402608	chr1:195451038-195451039	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs547820306	chr1:195451047-195451048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566032097	chr1:195451077-195451078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188621068	chr1:195451089-195451090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192796350	chr1:195451112-195451113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs61816713	chr1:195451129-195451130	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs147430488	chr1:195451131-195451132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184826981	chr1:195451171-195451172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571027217	chr1:195451245-195451246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538308448	chr1:195451311-195451312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549196214	chr1:195451337-195451338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs6681877	chr1:195451352-195451353	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs6684441	chr1:195451356-195451357	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs542940403	chr1:195451357-195451358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554543468	chr1:195451479-195451480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576257219	chr1:195451503-195451504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115122156	chr1:195451504-195451505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565031216	chr1:195451548-195451549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373152959	chr1:195451567-195451568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541534767	chr1:195451618-195451619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559825746	chr1:195451725-195451726	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Neuroblastoma	20406844	CNVD

Chromatin state (count:298 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195449400-195449600	Enhancers	Adipose Nuclei	Adipose
2	chr1:195450200-195450400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:195450400-195450600	Active TSS	Adipose Nuclei	Adipose
4	chr1:195450400-195450800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:195450400-195451000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr1:195450400-195451600	Enhancers	Ovary	ovary
7	chr1:195450600-195451000	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr1:195450800-195451000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:195451000-195451800	Enhancers	Adipose Nuclei	Adipose
10	chr1:195461600-195463200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:195478200-195478400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:195478600-195480200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:195480200-195480400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:195480400-195484400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:195481200-195481600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:195481200-195481600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:195484400-195484800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:195486600-195486800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:195487800-195488200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:195495400-195496000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:195514600-195515400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:195517200-195517400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:195518400-195519200	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr1:195519200-195519400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
25	chr1:195519400-195520200	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr1:195519600-195519800	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr1:195536800-195537200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:195537200-195537600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:195537600-195538200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:195546800-195547400	Enhancers	Ovary	ovary
31	chr1:195548000-195548600	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr1:195554000-195554400	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr1:195554000-195554800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:195554000-195555000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:195554200-195554600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:195554200-195554600	Enhancers	HMEC	breast
37	chr1:195554200-195554800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:195554400-195554800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:195554800-195555400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:195554800-195559600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:195555400-195555600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:195559600-195560400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:195559600-195561400	Enhancers	NH-A	brain
44	chr1:195559800-195560200	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr1:195559800-195561600	Enhancers	Hela-S3	cervix
46	chr1:195559800-195562000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:195560000-195560800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:195560200-195562800	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr1:195560400-195561200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:195560400-195562000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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