Variant report

Variant	nsv872914
Chromosome Location	chr1:195297127-195562355
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:38)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:195398482..195401178-chr1:195401687..195404461,3	K562	blood:
2	chr1:195474802..195477777-chr1:195478958..195481457,2	K562	blood:
3	chr1:195518670..195520403-chr1:195533153..195535062,2	K562	blood:
4	chr1:195553010..195555142-chr1:195558344..195561243,2	K562	blood:
5	chr1:195442462..195444603-chr1:195444759..195446417,2	MCF-7	breast:
6	chr1:195467909..195469471-chr1:195476696..195479659,2	K562	blood:
7	chr1:195413793..195416066-chr1:195416785..195419173,2	K562	blood:
8	chr1:195467909..195469471-chr1:195476696..195479659,2	K562	blood:
9	chr1:195474802..195477777-chr1:195478958..195481457,2	K562	blood:
10	chr1:195340635..195342790-chr1:195343117..195345385,2	K562	blood:
11	chr1:195308037..195310638-chr1:195312070..195313866,2	MCF-7	breast:
12	chr1:195398482..195401178-chr1:195401687..195404461,3	K562	blood:
13	chr1:195314819..195316810-chr1:195319212..195320954,2	MCF-7	breast:
14	chr1:195502291..195505198-chr1:195514179..195516495,2	K562	blood:
15	chr1:195308037..195310638-chr1:195312070..195313866,2	MCF-7	breast:
16	chr1:195340635..195342790-chr1:195343117..195345385,2	K562	blood:
17	chr1:195442462..195444603-chr1:195444759..195446417,2	MCF-7	breast:
18	chr1:195510518..195512657-chr1:195516239..195517820,2	K562	blood:
19	chr1:195438395..195441122-chr1:195442393..195443903,2	K562	blood:
20	chr1:195510518..195512657-chr1:195516239..195517820,2	K562	blood:
21	chr1:195518670..195520403-chr1:195533153..195535062,2	K562	blood:
22	chr1:195553010..195555142-chr1:195558344..195561243,2	K562	blood:
23	chr1:195561815..195564630-chr1:195565881..195568788,2	K562	blood:
24	chr1:195514419..195515039-chr5:57606225..57606777,2	MCF-7	breast:
25	chr1:195514637..195515437-chr4:98218446..98219186,2	MCF-7	breast:
26	chr1:195270062..195272293-chr1:195296328..195299059,2	MCF-7	breast:
27	chr1:195361839..195365274-chr1:195369633..195372261,3	K562	blood:
28	chr1:195422390..195425246-chr1:195431885..195433646,2	K562	blood:
29	chr1:195311544..195312044-chr17:56756797..56757332,2	Hela-S3	cervix:
30	chr1:195502291..195505198-chr1:195514179..195516495,2	K562	blood:
31	chr1:195385198..195387219-chr1:195683079..195685011,2	K562	blood:
32	chr1:195342786..195345349-chr1:195347109..195348747,2	K562	blood:
33	chr1:195438395..195441122-chr1:195442393..195443903,2	K562	blood:
34	chr1:195342786..195345349-chr1:195347109..195348747,2	K562	blood:
35	chr1:195361839..195365274-chr1:195369633..195372261,3	K562	blood:
36	chr1:195413793..195416066-chr1:195416785..195419173,2	K562	blood:
37	chr1:195422390..195425246-chr1:195431885..195433646,2	K562	blood:
38	chr1:195314819..195316810-chr1:195319212..195320954,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNT2-4	chr1:195436980-195437187	expReg_chr1_18917_-
2	lnc-CFH-1	chr1:195450556-195450708	XLOC_000511
3	lnc-CFH-1	chr1:195469301-195469368	XLOC_000511

No data

Variant related genes	Relation type
ENSG00000200997	chromatin interactions

Extended variants
information (count: 2215 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:2215 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10754137	chr1:195297127-195297128	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538766783	chr1:195297198-195297199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545522893	chr1:195297211-195297212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150389153	chr1:195297214-195297215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371293887	chr1:195297239-195297240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74132813	chr1:195297250-195297251	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs536276056	chr1:195297261-195297262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149519616	chr1:195297276-195297277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576675551	chr1:195297316-195297317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544049958	chr1:195297337-195297338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557315987	chr1:195297392-195297393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188361784	chr1:195297411-195297412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577479194	chr1:195297431-195297432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541622669	chr1:195297479-195297480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192593803	chr1:195297516-195297517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115796724	chr1:195297536-195297537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113294798	chr1:195297538-195297539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565822117	chr1:195297554-195297555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367763113	chr1:195297563-195297564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542296910	chr1:195297568-195297569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560898293	chr1:195297594-195297595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182894388	chr1:195297595-195297596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1359382	chr1:195297607-195297608	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs564751382	chr1:195297623-195297624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540520558	chr1:195297644-195297645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532206784	chr1:195297647-195297648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547165591	chr1:195297663-195297664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565878711	chr1:195297740-195297741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112798694	chr1:195297814-195297815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs16838272	chr1:195297991-195297992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570007710	chr1:195298014-195298015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187446897	chr1:195298015-195298016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74132814	chr1:195298042-195298043	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs17610672	chr1:195298090-195298091	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs11806227	chr1:195298151-195298152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139903933	chr1:195298187-195298188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553593870	chr1:195298204-195298205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376162013	chr1:195298236-195298237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs60288300	chr1:195298284-195298285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374757411	chr1:195298293-195298294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368516800	chr1:195298310-195298311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560742343	chr1:195298342-195298343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35818068	chr1:195298488-195298489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115358517	chr1:195298491-195298492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs17667796	chr1:195298550-195298551	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs564861984	chr1:195298551-195298552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532268011	chr1:195298570-195298571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547200462	chr1:195298745-195298746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191384040	chr1:195298746-195298747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530160609	chr1:195298765-195298766	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Recurrent pregnancy loss	19789632	CNVD
early-passage human iPS cells	21368824	CNVD
Intellectual disability	21811512	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:167 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195296400-195298800	Enhancers	Liver	Liver
2	chr1:195296600-195297400	Enhancers	Fetal Heart	heart
3	chr1:195296800-195298600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:195297200-195297400	Enhancers	Adipose Nuclei	Adipose
5	chr1:195297200-195297600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr1:195297200-195297600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr1:195297200-195297600	Enhancers	Ovary	ovary
8	chr1:195297200-195298200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr1:195297400-195298000	Weak transcription	Adipose Nuclei	Adipose
10	chr1:195297600-195298600	Weak transcription	Ovary	ovary
11	chr1:195298000-195298800	Enhancers	Adipose Nuclei	Adipose
12	chr1:195298600-195298800	Enhancers	Ovary	ovary
13	chr1:195298800-195299000	Weak transcription	Ovary	ovary
14	chr1:195299200-195299400	Active TSS	Fetal Brain Male	brain
15	chr1:195299400-195306000	Weak transcription	Fetal Brain Male	brain
16	chr1:195304800-195305200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr1:195305200-195305600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr1:195305400-195305600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:195305400-195306800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr1:195305600-195305800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr1:195305600-195305800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr1:195305600-195306000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr1:195305600-195306000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr1:195305600-195306200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr1:195305600-195306400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr1:195305600-195306400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:195305600-195306400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:195305600-195306400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:195305600-195306600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr1:195305600-195306800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr1:195305600-195307000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:195305800-195306000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:195305800-195306400	Enhancers	H1 Cell Line	embryonic stem cell
34	chr1:195305800-195306400	Enhancers	H9 Cell Line	embryonic stem cell
35	chr1:195305800-195306400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr1:195305800-195306400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr1:195305800-195307000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:195306000-195306400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr1:195306000-195306400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr1:195306000-195306400	Enhancers	Fetal Brain Male	brain
41	chr1:195306000-195306400	Enhancers	Ovary	ovary
42	chr1:195306000-195306600	Enhancers	Fetal Brain Female	brain
43	chr1:195306200-195307200	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr1:195306400-195307000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr1:195306400-195307000	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr1:195306400-195307200	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr1:195306400-195307200	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr1:195306400-195307400	Weak transcription	Fetal Brain Male	brain
49	chr1:195306400-195310600	Weak transcription	Ovary	ovary
50	chr1:195306600-195306800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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