Variant report

Variant	nsv159013
Chromosome Location	chr1:211449555-211453750
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr1:211452733-211452879	GM12878	blood:	n/a	n/a
2	CHD1	chr1:211451645-211451663	GM12878	blood:	n/a	n/a
3	CUX1	chr1:211453028-211453113	GM12878	blood:	n/a	n/a
4	IRF1	chr1:211453068-211453116	K562	blood:	n/a	n/a
5	PAX5	chr1:211449584-211449748	GM12878	blood:	n/a	n/a
6	POLR2A	chr1:211452135-211452162	K562	blood:	n/a	n/a
7	POLR2A	chr1:211451140-211451159	MCF10A-Er-Src	breast:	n/a	n/a
8	TCF7L2	chr1:211449344-211449744	HEK293	kidney:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:211452717..211454865-chr1:211461107..211463673,3	K562	blood:
2	chr1:211453275..211458809-chr1:211459098..211463342,7	K562	blood:
3	chr1:211444425..211446748-chr1:211449200..211451124,2	K562	blood:
4	chr1:211445921..211449988-chr1:211451862..211456594,5	K562	blood:
5	chr1:211432881..211436837-chr1:211447247..211451397,4	K562	blood:
6	chr1:211438204..211440790-chr1:211452886..211454870,2	K562	blood:
7	chr1:211431689..211435313-chr1:211451941..211455577,4	K562	blood:
8	chr1:210546212..210548520-chr1:211453414..211456327,2	MCF-7	breast:
9	chr1:211444424..211446748-chr1:211449200..211451604,3	K562	blood:
10	chr1:211449704..211451209-chr1:211461205..211463374,2	K562	blood:

No data

Variant related genes	Relation type
RCOR3	TF binding region
ENSG00000200972	chromatin interactions
ENSG00000117625	chromatin interactions

Extended variants
information (count: 134 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12133993	chr1:211449616-211449617	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs147519274	chr1:211449653-211449654	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs199565987	chr1:211449712-211449713	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs144354541	chr1:211449717-211449718	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs527741400	chr1:211449805-211449806	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs552754171	chr1:211449878-211449879	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs571051066	chr1:211449927-211449928	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs183140701	chr1:211449997-211449998	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs146407160	chr1:211450037-211450038	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs556557831	chr1:211450075-211450076	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs376652014	chr1:211450084-211450085	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs568710117	chr1:211450085-211450086	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs535790679	chr1:211450108-211450109	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs553680299	chr1:211450126-211450127	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs571753882	chr1:211450132-211450133	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs188178296	chr1:211450156-211450157	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs4278412	chr1:211450157-211450158	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs4548506	chr1:211450173-211450174	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs543573468	chr1:211450194-211450195	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs561746486	chr1:211450195-211450196	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs192946060	chr1:211450226-211450227	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs540972759	chr1:211450257-211450258	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs4281373	chr1:211450300-211450301	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs527307834	chr1:211450347-211450348	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs377601223	chr1:211450348-211450349	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs527729811	chr1:211450352-211450353	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs34140425	chr1:211450355-211450356	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs564600620	chr1:211450364-211450365	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs531865942	chr1:211450414-211450415	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs61850990	chr1:211450415-211450416	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs545435373	chr1:211450427-211450428	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs12067738	chr1:211450431-211450432	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs538783429	chr1:211450439-211450440	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs547816770	chr1:211450447-211450448	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs370359726	chr1:211450450-211450451	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs368627107	chr1:211450503-211450504	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs145454761	chr1:211450511-211450512	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs185140202	chr1:211450515-211450516	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs373698779	chr1:211450566-211450567	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs575695637	chr1:211450610-211450611	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs147687029	chr1:211450692-211450693	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs555493323	chr1:211450731-211450732	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs565961473	chr1:211450795-211450796	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs189498756	chr1:211450900-211450901	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs142399212	chr1:211450914-211450915	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs559721215	chr1:211450937-211450938	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs572449729	chr1:211451040-211451041	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs546192365	chr1:211451058-211451059	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs546109910	chr1:211451127-211451128	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs564488825	chr1:211451174-211451175	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
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
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
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Medulloblastoma	16783165	CNVD

Chromatin state (count:235 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211434400-211453200	Weak transcription	Small Intestine	intestine
2	chr1:211434400-211453400	Weak transcription	Spleen	Spleen
3	chr1:211434400-211454800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:211434400-211487000	Weak transcription	Gastric	stomach
5	chr1:211434600-211453400	Weak transcription	Aorta	Aorta
6	chr1:211434600-211454000	Weak transcription	Pancreas	Pancrea
7	chr1:211434600-211462600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:211434600-211478200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:211434800-211453000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:211434800-211453400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:211434800-211462600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:211434800-211464800	Weak transcription	Right Ventricle	heart
13	chr1:211434800-211474200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:211435600-211460800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:211436200-211456800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:211437000-211454600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:211437800-211451000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:211438800-211478800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:211439800-211478200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:211440000-211458200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:211440600-211454400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:211440800-211481800	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr1:211440800-211483600	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr1:211441200-211461200	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr1:211443000-211480000	Strong transcription	Dnd41	blood
26	chr1:211443000-211480400	Strong transcription	Placenta	Placenta
27	chr1:211443200-211460800	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr1:211443200-211484000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:211443600-211454400	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr1:211443800-211460400	Strong transcription	Primary B cells from peripheral blood	blood
31	chr1:211443800-211478200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:211444200-211459400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:211444400-211454000	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr1:211444400-211479000	Strong transcription	Liver	Liver
35	chr1:211444600-211454400	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr1:211444600-211454400	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr1:211444600-211457000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr1:211444600-211457200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:211444600-211459000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr1:211444600-211459800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:211444600-211471000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr1:211444600-211478000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr1:211444600-211479200	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr1:211444800-211449800	Strong transcription	A549	lung
45	chr1:211444800-211449800	Strong transcription	Osteobl	bone
46	chr1:211444800-211450200	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr1:211444800-211450200	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr1:211444800-211454600	Strong transcription	K562	blood
49	chr1:211444800-211455400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr1:211444800-211460600	Strong transcription	HSMM	muscle

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