Variant report

Variant	nsv4010
Chromosome Location	chr1:197471463-197511397
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:37)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:197498873..197501706-chr1:197501990..197505731,4	MCF-7	breast:
2	chr1:197473765..197476231-chr1:197480275..197482874,3	K562	blood:
3	chr1:197487533..197489814-chr1:197494606..197496107,2	K562	blood:
4	chr1:197485830..197487622-chr1:197488513..197491078,2	MCF-7	breast:
5	chr1:197497659..197501669-chr1:197502330..197509273,8	K562	blood:
6	chr1:197497659..197500919-chr1:197504865..197507867,5	K562	blood:
7	chr1:197468068..197470896-chr1:197476662..197478717,2	K562	blood:
8	chr1:197502555..197505067-chr1:197869971..197872889,2	K562	blood:
9	chr1:197488769..197489290-chr1:197884857..197885384,2	MCF-7	breast:
10	chr1:197486893..197488949-chr1:197506821..197509108,2	K562	blood:
11	chr1:197497659..197501669-chr1:197502330..197509273,8	K562	blood:
12	chr1:197485830..197487622-chr1:197488513..197491078,2	MCF-7	breast:
13	chr1:197507241..197510211-chr1:197512061..197514792,2	K562	blood:
14	chr1:197485878..197487638-chr1:197491783..197494614,2	MCF-7	breast:
15	chr1:197467290..197470026-chr1:197472258..197475050,3	K562	blood:
16	chr1:197487691..197489814-chr1:197493509..197496233,3	K562	blood:
17	chr1:197490059..197490926-chr1:197893382..197894293,3	K562	blood:
18	chr1:197486893..197488949-chr1:197506821..197509108,2	K562	blood:
19	chr1:197495874..197496814-chr1:197893397..197894241,3	MCF-7	breast:
20	chr1:197495623..197496560-chr1:197884402..197885121,2	MCF-7	breast:
21	chr1:197466870..197468517-chr1:197480625..197483174,2	K562	blood:
22	chr1:197496825..197498646-chr1:197892256..197894438,2	MCF-7	breast:
23	chr1:197368966..197369515-chr1:197490435..197490984,2	MCF-7	breast:
24	chr1:197473765..197476231-chr1:197480275..197482874,3	K562	blood:
25	chr1:197492034..197493668-chr3:161137315..161140099,2	MCF-7	breast:
26	chr1:197488575..197489479-chr1:197837963..197838594,2	K562	blood:
27	chr1:197498873..197501706-chr1:197501990..197505731,4	MCF-7	breast:
28	chr1:197481645..197483938-chr1:197564288..197566094,2	K562	blood:
29	chr1:197490412..197490975-chr1:198434677..198435398,2	K562	blood:
30	chr1:197495628..197496506-chr1:197838136..197838755,2	K562	blood:
31	chr1:197485878..197487638-chr1:197491783..197494614,2	MCF-7	breast:
32	chr1:197487691..197489814-chr1:197493509..197496233,3	K562	blood:
33	chr1:197490338..197491289-chr1:197893428..197894214,3	MCF-7	breast:
34	chr1:197497659..197500919-chr1:197504865..197507867,5	K562	blood:
35	chr1:197490113..197490959-chr1:197837878..197838660,2	K562	blood:
36	chr1:197473401..197475790-chr1:197961530..197964182,2	K562	blood:
37	chr1:197487533..197489814-chr1:197494606..197496107,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZBTB41-4	chr1:197475064-197476148	NONHSAT008627
2	lnc-ZBTB41-4	chr1:197473881-197475058	NONHSAT008627

No data

Variant related genes	Relation type
ENSG00000143355	chromatin interactions
ENSG00000203724	chromatin interactions

Extended variants
information (count: 1263 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1263 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547345358	chr1:197471502-197471503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6428407	chr1:197471512-197471513	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs534250164	chr1:197471653-197471654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555384078	chr1:197471718-197471719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553438768	chr1:197471757-197471758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548287961	chr1:197471805-197471806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575086312	chr1:197471811-197471812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573719356	chr1:197471816-197471817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544321010	chr1:197471825-197471826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556296070	chr1:197471871-197471872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186065561	chr1:197471900-197471901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577722944	chr1:197472012-197472013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545205023	chr1:197472024-197472025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114413110	chr1:197472057-197472058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9658810	chr1:197472070-197472071	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs557552223	chr1:197472104-197472105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542549201	chr1:197472152-197472153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561739315	chr1:197472161-197472162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529297426	chr1:197472197-197472198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139869073	chr1:197472259-197472260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114866384	chr1:197472286-197472287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537930685	chr1:197472367-197472368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551926628	chr1:197472422-197472423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189213694	chr1:197472426-197472427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566985680	chr1:197472440-197472441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373217870	chr1:197472444-197472445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142800972	chr1:197472452-197472453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556141229	chr1:197472498-197472499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112756790	chr1:197472503-197472504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567222917	chr1:197472519-197472520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114098536	chr1:197472571-197472572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556259440	chr1:197472595-197472596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181870112	chr1:197472730-197472731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544805534	chr1:197472766-197472767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs151052994	chr1:197472843-197472844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376575139	chr1:197472855-197472856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542512339	chr1:197472912-197472913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560855507	chr1:197472940-197472941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374153320	chr1:197473012-197473013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573661324	chr1:197473021-197473022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114578468	chr1:197473043-197473044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1570809	chr1:197473135-197473136	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs186515426	chr1:197473140-197473141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551623181	chr1:197473148-197473149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560733043	chr1:197473154-197473155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527890115	chr1:197473166-197473167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528120416	chr1:197473294-197473295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549657889	chr1:197473307-197473308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190649404	chr1:197473313-197473314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537813635	chr1:197473314-197473315	Weak transcription	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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung adenocarcinoma	21935476	CNVD
Glioblastoma multiforme	20472715	CNVD
Multiple myeloma	16461302	CNVD
Leukoplakia	24403051	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD

Chromatin state (count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197467200-197499000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:197472200-197477800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:197473800-197479200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:197474000-197481600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr1:197475000-197484800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:197475200-197479000	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr1:197475400-197478800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr1:197475800-197478200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:197476200-197479600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr1:197476400-197478000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:197476400-197478000	Weak transcription	Dnd41	blood
12	chr1:197476400-197478800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:197476600-197477000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr1:197476600-197478200	Weak transcription	Primary B cells from cord blood	blood
15	chr1:197476600-197478200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr1:197476600-197478200	Weak transcription	Adipose Nuclei	Adipose
17	chr1:197476600-197478800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr1:197476600-197479600	Weak transcription	Ovary	ovary
19	chr1:197476800-197477400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr1:197476800-197477400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr1:197476800-197478400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:197476800-197478400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:197476800-197479200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:197476800-197479200	Weak transcription	Fetal Lung	lung
25	chr1:197476800-197479200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr1:197476800-197479600	Weak transcription	Primary T cells from cord blood	blood
27	chr1:197476800-197479600	Weak transcription	Esophagus	oesophagus
28	chr1:197476800-197479600	Weak transcription	Left Ventricle	heart
29	chr1:197476800-197479600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr1:197476800-197482600	Weak transcription	Hela-S3	cervix
31	chr1:197476800-197483400	Weak transcription	Small Intestine	intestine
32	chr1:197476800-197484600	Weak transcription	Fetal Intestine Large	intestine
33	chr1:197477000-197479000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:197477200-197478800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr1:197477200-197479200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr1:197477400-197479000	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr1:197477400-197479600	Weak transcription	Primary B cells from peripheral blood	blood
38	chr1:197477600-197479200	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr1:197477600-197479200	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr1:197477600-197479200	Weak transcription	Brain Anterior Caudate	brain
41	chr1:197477600-197479200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr1:197477800-197479400	Weak transcription	Liver	Liver
43	chr1:197477800-197479600	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr1:197477800-197480400	Weak transcription	Fetal Kidney	kidney
45	chr1:197477800-197481000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:197478000-197479600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:197478000-197479600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:197478000-197479600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr1:197478000-197479600	Weak transcription	Fetal Thymus	thymus
50	chr1:197478000-197479600	Weak transcription	Rectal Smooth Muscle	rectum

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