Variant report

Variant	nsv945280
Chromosome Location	chr1:211833548-211836203
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:211835419-211835649	K562	blood:	n/a	n/a
2	POLR2A	chr1:211835089-211835230	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr1:211833995-211834558	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr1:211835409-211835580	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr1:211832727-211835623	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr1:211833635-211833650	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr1:211834042-211834082	GM12878	blood:	n/a	n/a
8	POLR2A	chr1:211833724-211834676	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr1:211833290-211833631	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr1:211835948-211836032	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr1:211835909-211835927	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr1:211835239-211835931	K562	blood:	n/a	n/a
13	POLR2A	chr1:211833950-211836077	K562	blood:	n/a	n/a
14	POLR2A	chr1:211833304-211833865	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr1:211834842-211834946	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT3	chr1:211835256-211835258	MCF10A-Er-Src	breast:	n/a	n/a
17	TCF7L2	chr1:211834127-211834177	Hela-S3	cervix:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:211775676..211777293-chr1:211832136..211834585,2	K562	blood:
2	chr1:211760187..211762682-chr1:211831281..211833623,2	K562	blood:
3	chr1:211820504..211824177-chr1:211831233..211834573,3	MCF-7	breast:
4	chr1:211750433..211752019-chr1:211835257..211837969,2	K562	blood:

No data

Variant related genes	Relation type
FDPSP8	TF binding region

Extended variants
information (count: 100 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562121164	chr1:211833558-211833559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192033925	chr1:211833585-211833586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150587698	chr1:211833626-211833627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374925979	chr1:211833628-211833629	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547915174	chr1:211833658-211833659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566852089	chr1:211833663-211833664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571560669	chr1:211833664-211833665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533596081	chr1:211833678-211833679	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183415786	chr1:211833704-211833705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570231568	chr1:211833784-211833785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537750438	chr1:211833872-211833873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549365690	chr1:211833878-211833879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567302831	chr1:211833885-211833886	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373146728	chr1:211833897-211833898	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1373292	chr1:211833926-211833927	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs553065550	chr1:211833961-211833962	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577642324	chr1:211833971-211833972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538318560	chr1:211833979-211833980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1822569	chr1:211834028-211834029	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs1822568	chr1:211834039-211834040	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs546792056	chr1:211834059-211834060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542514159	chr1:211834068-211834069	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561019407	chr1:211834113-211834114	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377058717	chr1:211834141-211834142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541046391	chr1:211834164-211834165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559673837	chr1:211834181-211834182	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533483038	chr1:211834197-211834198	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551859462	chr1:211834199-211834200	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs61731125	chr1:211834227-211834228	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531125263	chr1:211834279-211834280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61731130	chr1:211834295-211834296	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192368948	chr1:211834299-211834300	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370170331	chr1:211834310-211834311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534641220	chr1:211834332-211834333	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374804634	chr1:211834351-211834352	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534109201	chr1:211834365-211834366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375427765	chr1:211834390-211834391	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556589318	chr1:211834391-211834392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575141159	chr1:211834406-211834407	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113989692	chr1:211834418-211834419	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs151197025	chr1:211834432-211834433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535302465	chr1:211834469-211834470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554879341	chr1:211834493-211834494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573077985	chr1:211834504-211834505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555355536	chr1:211834520-211834521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs367994172	chr1:211834559-211834560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182277345	chr1:211834582-211834583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569274759	chr1:211834659-211834660	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs199974577	chr1:211834686-211834687	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs79696754	chr1:211834715-211834716	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Medulloblastoma	16783165	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211827600-211833800	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr1:211827600-211837600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:211827600-211847600	Weak transcription	HSMM	muscle
4	chr1:211827600-211847600	Weak transcription	NHEK	skin
5	chr1:211827800-211835600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:211827800-211836600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:211828200-211840400	Weak transcription	Fetal Lung	lung
8	chr1:211828400-211836600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:211828600-211833600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr1:211828600-211835400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:211828600-211835800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:211828600-211835800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:211828600-211835800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:211828600-211836600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:211828600-211836600	Weak transcription	NHDF-Ad	bronchial
16	chr1:211828600-211837600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:211828600-211837800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:211828600-211837800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:211828600-211837800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr1:211828600-211837800	Weak transcription	Osteobl	bone
21	chr1:211828600-211840200	Weak transcription	HMEC	breast
22	chr1:211828600-211842400	Weak transcription	NHLF	lung
23	chr1:211828600-211842800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:211828600-211845600	Weak transcription	Fetal Heart	heart
25	chr1:211828600-211847600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr1:211828600-211847600	Weak transcription	Brain Germinal Matrix	brain
27	chr1:211828600-211847800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr1:211828600-211847800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr1:211828600-211848000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:211828600-211848000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:211828800-211835200	Weak transcription	Fetal Thymus	thymus
32	chr1:211828800-211836600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:211828800-211836600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:211828800-211837800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:211828800-211837800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:211828800-211837800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr1:211828800-211839200	Weak transcription	NH-A	brain
38	chr1:211828800-211840000	Weak transcription	HUVEC	blood vessel
39	chr1:211828800-211841800	Weak transcription	Fetal Muscle Leg	muscle
40	chr1:211828800-211847600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:211829000-211835400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:211829000-211836000	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr1:211829000-211837400	Weak transcription	Hela-S3	cervix
44	chr1:211829000-211837600	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr1:211829000-211837800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr1:211829000-211838000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr1:211829000-211839400	Weak transcription	K562	blood
48	chr1:211829000-211842800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr1:211829000-211847400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr1:211829000-211847800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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