Variant report

Variant	nsv873068
Chromosome Location	chr1:197046782-197076194
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:15)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:197071674..197075370-chr1:197103633..197105995,3	K562	blood:
2	chr1:197075415..197078387-chr1:197103819..197106746,2	K562	blood:
3	chr1:196988548..196990975-chr1:197072466..197074203,2	K562	blood:
4	chr1:197056210..197058041-chr1:197063459..197065342,2	K562	blood:
5	chr1:197055911..197057601-chr1:197071905..197074191,2	K562	blood:
6	chr1:197057862..197060422-chr16:85387668..85389752,2	MCF-7	breast:
7	chr1:197063964..197065535-chr1:197110090..197112434,2	K562	blood:
8	chr1:197055379..197060712-chr1:197061077..197065456,6	K562	blood:
9	chr1:197055911..197057601-chr1:197071905..197074191,2	K562	blood:
10	chr1:197056210..197058041-chr1:197063459..197065342,2	K562	blood:
11	chr1:197055379..197060712-chr1:197061077..197065456,6	K562	blood:
12	chr1:197073799..197075979-chr1:197077836..197079355,2	K562	blood:
13	chr1:197075217..197076795-chr1:197101256..197102905,2	K562	blood:
14	chr1:196993317..196995109-chr1:197057738..197060458,2	K562	blood:
15	chr1:197068919..197071341-chr1:197120763..197122532,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ASPM-1	chr1:197062778-197062968	NONHSAT008611
2	lnc-ASPM-1	chr1:197062778-197062807	l_160_chr1:197043319-197062807_placenta

No data

Variant related genes	Relation type
ENSG00000066279	chromatin interactions

Extended variants
information (count: 1232 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1232 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182555416	chr1:197049009-197049010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558313185	chr1:197049077-197049078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199932836	chr1:197049127-197049128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186303863	chr1:197049160-197049161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545135320	chr1:197049236-197049237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540348112	chr1:197049290-197049291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561809361	chr1:197049295-197049296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190866580	chr1:197049344-197049345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182670206	chr1:197049345-197049346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4915313	chr1:197049355-197049356	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs530826674	chr1:197049377-197049378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144633961	chr1:197049387-197049388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527637996	chr1:197049445-197049446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375525650	chr1:197049488-197049489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188917157	chr1:197049493-197049494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528268263	chr1:197049498-197049499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546733716	chr1:197049543-197049544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112634009	chr1:197049582-197049583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192451032	chr1:197049584-197049585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550540237	chr1:197049604-197049605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7514071	chr1:197049661-197049662	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs183202182	chr1:197049669-197049670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558138492	chr1:197049670-197049671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375879213	chr1:197049684-197049685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573114927	chr1:197049703-197049704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371788372	chr1:197049721-197049722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534082994	chr1:197049780-197049781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs56867738	chr1:197049819-197049820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs573795737	chr1:197049860-197049861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187493047	chr1:197049861-197049862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138477139	chr1:197049870-197049871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114654295	chr1:197049915-197049916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571716349	chr1:197049958-197049959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546101957	chr1:197049976-197049977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564339600	chr1:197049984-197049985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528304911	chr1:197050053-197050054	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs546813455	chr1:197050115-197050116	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs192002288	chr1:197050167-197050168	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs149280392	chr1:197050217-197050218	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550332505	chr1:197050221-197050222	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568854837	chr1:197050255-197050256	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184789606	chr1:197050285-197050286	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552059080	chr1:197050293-197050294	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188163852	chr1:197050331-197050332	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144535658	chr1:197050380-197050381	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555534963	chr1:197050396-197050397	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573832649	chr1:197050408-197050409	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148467599	chr1:197050416-197050417	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs118133284	chr1:197050430-197050431	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192446923	chr1:197050452-197050453	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
small cell lung cancer	20016488	CNVD

Chromatin state (count:508 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197049000-197050400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:197049200-197050800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:197049800-197051800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:197050000-197050400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:197050000-197052800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr1:197050200-197050800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:197050200-197051400	Weak transcription	Fetal Kidney	kidney
8	chr1:197050200-197052200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
9	chr1:197050200-197052400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:197050400-197050600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:197050400-197050800	ZNF genes & repeats	Gastric	stomach
12	chr1:197050400-197051600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
13	chr1:197050400-197051800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:197050400-197052000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:197050400-197052200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:197050400-197052200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:197050400-197052200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
18	chr1:197050400-197052200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:197050400-197052200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:197050400-197052200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:197050400-197052200	ZNF genes & repeats	Fetal Intestine Small	intestine
22	chr1:197050400-197052400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:197050400-197052400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
24	chr1:197050400-197055200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
25	chr1:197050400-197065600	Weak transcription	Stomach Mucosa	stomach
26	chr1:197050600-197051200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:197050600-197051600	Weak transcription	K562	blood
28	chr1:197050600-197051800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:197050600-197052000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:197050600-197052200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
31	chr1:197050600-197052200	ZNF genes & repeats	Fetal Brain Female	brain
32	chr1:197050600-197052200	ZNF genes & repeats	Fetal Muscle Leg	muscle
33	chr1:197050600-197052200	ZNF genes & repeats	Fetal Stomach	stomach
34	chr1:197050600-197052200	ZNF genes & repeats	Thymus	Thymus
35	chr1:197050600-197052200	ZNF genes & repeats	HSMM	muscle
36	chr1:197050600-197052800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:197050600-197053000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:197050600-197055200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
39	chr1:197050600-197055400	ZNF genes & repeats	Dnd41	blood
40	chr1:197050600-197059600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr1:197050600-197064400	Weak transcription	Fetal Heart	heart
42	chr1:197050800-197051000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
43	chr1:197050800-197051400	ZNF genes & repeats	Fetal Lung	lung
44	chr1:197050800-197051600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr1:197050800-197051800	Weak transcription	HMEC	breast
46	chr1:197050800-197052200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
47	chr1:197050800-197052400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:197050800-197052800	ZNF genes & repeats	A549	lung
49	chr1:197050800-197053000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
50	chr1:197050800-197053600	Weak transcription	Gastric	stomach

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