Variant report

Variant	nsv872916
Chromosome Location	chr1:195313107-195467306
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:20)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:195314819..195316810-chr1:195319212..195320954,2	MCF-7	breast:
2	chr1:195361839..195365274-chr1:195369633..195372261,3	K562	blood:
3	chr1:195442462..195444603-chr1:195444759..195446417,2	MCF-7	breast:
4	chr1:195438395..195441122-chr1:195442393..195443903,2	K562	blood:
5	chr1:195308037..195310638-chr1:195312070..195313866,2	MCF-7	breast:
6	chr1:195342786..195345349-chr1:195347109..195348747,2	K562	blood:
7	chr1:195314819..195316810-chr1:195319212..195320954,2	MCF-7	breast:
8	chr1:195340635..195342790-chr1:195343117..195345385,2	K562	blood:
9	chr1:195413793..195416066-chr1:195416785..195419173,2	K562	blood:
10	chr1:195361839..195365274-chr1:195369633..195372261,3	K562	blood:
11	chr1:195442462..195444603-chr1:195444759..195446417,2	MCF-7	breast:
12	chr1:195398482..195401178-chr1:195401687..195404461,3	K562	blood:
13	chr1:195342786..195345349-chr1:195347109..195348747,2	K562	blood:
14	chr1:195398482..195401178-chr1:195401687..195404461,3	K562	blood:
15	chr1:195422390..195425246-chr1:195431885..195433646,2	K562	blood:
16	chr1:195438395..195441122-chr1:195442393..195443903,2	K562	blood:
17	chr1:195385198..195387219-chr1:195683079..195685011,2	K562	blood:
18	chr1:195422390..195425246-chr1:195431885..195433646,2	K562	blood:
19	chr1:195413793..195416066-chr1:195416785..195419173,2	K562	blood:
20	chr1:195340635..195342790-chr1:195343117..195345385,2	K562	blood:

(count:2 , 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

No data

Extended variants
information (count: 904 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:904 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1575614	chr1:195313107-195313108	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187304699	chr1:195313115-195313116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192152385	chr1:195313120-195313121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543247551	chr1:195313127-195313128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527845318	chr1:195313137-195313138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537775659	chr1:195334209-195334210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77865121	chr1:195334210-195334211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140386633	chr1:195334239-195334240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200499508	chr1:195334240-195334241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs71565592	chr1:195334267-195334268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114230615	chr1:195334270-195334271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs199540059	chr1:195334271-195334272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573956427	chr1:195334273-195334274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189300570	chr1:195334398-195334399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553976831	chr1:195334410-195334411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs180760174	chr1:195334435-195334436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542480015	chr1:195334492-195334493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186349749	chr1:195334504-195334505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538156029	chr1:195334510-195334511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556355297	chr1:195334537-195334538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373679550	chr1:195334669-195334670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143868008	chr1:195334677-195334678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531717461	chr1:195334691-195334692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544176007	chr1:195334714-195334715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190756798	chr1:195334774-195334775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532763017	chr1:195334786-195334787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547927141	chr1:195334793-195334794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566468505	chr1:195334807-195334808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12757979	chr1:195334829-195334830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115421715	chr1:195334841-195334842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181575069	chr1:195334842-195334843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147249577	chr1:195334891-195334892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186548160	chr1:195334924-195334925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549671413	chr1:195335030-195335031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545978580	chr1:195335038-195335039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200012315	chr1:195335056-195335057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571159377	chr1:195335084-195335085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538478541	chr1:195335086-195335087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371211251	chr1:195335097-195335098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553896565	chr1:195335165-195335166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191829908	chr1:195335179-195335180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs536779429	chr1:195335242-195335243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555099619	chr1:195335256-195335257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs139006364	chr1:195335270-195335271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375969581	chr1:195335341-195335342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543799089	chr1:195335371-195335372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183194215	chr1:195335402-195335403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565580895	chr1:195335514-195335515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs10921840	chr1:195335517-195335518	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs541282910	chr1:195335518-195335519	Enhancers	n/a	n/a	Overlapped CNVs	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
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

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195312600-195313200	Enhancers	Ovary	ovary
2	chr1:195334200-195335600	Enhancers	Dnd41	blood
3	chr1:195334400-195335600	Enhancers	Primary T cells from cord blood	blood
4	chr1:195340800-195341200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr1:195345600-195346000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr1:195348000-195348400	Enhancers	Fetal Lung	lung
7	chr1:195354200-195354800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:195363000-195363400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr1:195363200-195364400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:195363800-195364400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:195364400-195367200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:195367200-195367600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:195383400-195383800	Bivalent Enhancer	Aorta	Aorta
14	chr1:195403800-195404200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:195403800-195404200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:195408200-195408400	Enhancers	Adipose Nuclei	Adipose
17	chr1:195408400-195409000	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr1:195409000-195409400	Enhancers	Adipose Nuclei	Adipose
19	chr1:195414000-195414400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:195416000-195418600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:195416600-195417000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr1:195419800-195420200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:195419800-195421200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr1:195419800-195421400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr1:195420000-195421200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr1:195420000-195421800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:195420000-195422000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr1:195420200-195422000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr1:195420600-195421600	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr1:195427000-195427200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:195427200-195427600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:195428000-195428200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:195431600-195432000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:195431800-195432400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:195439800-195440000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:195441200-195441800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:195441200-195441800	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr1:195441400-195441800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr1:195441400-195441800	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr1:195441600-195442000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:195441800-195444600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:195449400-195449600	Enhancers	Adipose Nuclei	Adipose
43	chr1:195450200-195450400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:195450400-195450600	Active TSS	Adipose Nuclei	Adipose
45	chr1:195450400-195450800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:195450400-195451000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr1:195450400-195451600	Enhancers	Ovary	ovary
48	chr1:195450600-195451000	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr1:195450800-195451000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:195451000-195451800	Enhancers	Adipose Nuclei	Adipose

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