Variant report

Variant	rs4894959
Chromosome Location	chr3:105589801-105589802
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:105589723-105589839	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr3:105589480-105589906	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
CBLB	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1020327	1.00[AMR][1000 genomes]
rs1025885	1.00[AMR][1000 genomes]
rs1025886	1.00[AMR][1000 genomes]
rs1036877	1.00[AMR][1000 genomes]
rs1039545	1.00[AMR][1000 genomes]
rs10933832	1.00[AMR][1000 genomes]
rs1348348	1.00[AMR][1000 genomes]
rs1443099	1.00[AMR][1000 genomes]
rs1443107	1.00[AMR][1000 genomes]
rs1503922	1.00[AMR][1000 genomes]
rs1548056	1.00[AMR][1000 genomes]
rs1561920	1.00[AMR][1000 genomes]
rs1822348	1.00[AMR][1000 genomes]
rs1838045	1.00[AMR][1000 genomes]
rs1867428	1.00[AMR][1000 genomes]
rs1867429	1.00[AMR][1000 genomes]
rs1963622	1.00[AMR][1000 genomes]
rs1992520	1.00[AMR][1000 genomes]
rs2197351	1.00[AMR][1000 genomes]
rs2221379	1.00[AMR][1000 genomes]
rs3862049	1.00[AMR][1000 genomes]
rs4243428	1.00[AMR][1000 genomes]
rs4282093	1.00[AMR][1000 genomes]
rs4613490	1.00[AMR][1000 genomes]
rs4894945	1.00[AMR][1000 genomes]
rs4894947	1.00[AMR][1000 genomes]
rs4894948	1.00[AMR][1000 genomes]
rs4894961	1.00[AMR][1000 genomes]
rs6437615	1.00[AMR][1000 genomes]
rs6437617	1.00[AMR][1000 genomes]
rs6437625	1.00[AMR][1000 genomes]
rs6765716	1.00[AMR][1000 genomes]
rs6768096	1.00[AMR][1000 genomes]
rs6804286	1.00[AMR][1000 genomes]
rs6805675	1.00[AMR][1000 genomes]
rs7622735	1.00[AMR][1000 genomes]
rs7643647	1.00[AMR][1000 genomes]
rs7649437	1.00[AMR][1000 genomes]
rs9288816	1.00[AMR][1000 genomes]
rs9288819	1.00[AMR][1000 genomes]
rs9288820	1.00[AMR][1000 genomes]
rs976961	1.00[AMR][1000 genomes]
rs976962	1.00[AMR][1000 genomes]
rs9809911	1.00[AMR][1000 genomes]
rs9811870	1.00[AMR][1000 genomes]
rs981479	1.00[AMR][1000 genomes]
rs9830539	1.00[AMR][1000 genomes]
rs9831221	1.00[AMR][1000 genomes]
rs9833645	1.00[AMR][1000 genomes]
rs9838768	1.00[AMR][1000 genomes]
rs9859644	1.00[AMR][1000 genomes]
rs9872290	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755185	chr3:105378310-105597310	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1008564	chr3:105554580-105643435	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1008876	chr3:105554580-105645373	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv877312	chr3:105560638-105916506	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105589000-105590000	Enhancers	Primary B cells from cord blood	blood
2	chr3:105589000-105590000	Weak transcription	Fetal Brain Male	brain
3	chr3:105589000-105590200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr3:105589000-105590200	Weak transcription	Small Intestine	intestine
5	chr3:105589000-105590600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr3:105589000-105591000	Enhancers	Fetal Heart	heart
7	chr3:105589000-105591000	Enhancers	Fetal Intestine Small	intestine
8	chr3:105589000-105595200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr3:105589000-105601200	Weak transcription	Aorta	Aorta
10	chr3:105589000-105601200	Weak transcription	Thymus	Thymus
11	chr3:105589000-105601200	Weak transcription	NH-A	brain
12	chr3:105589200-105590200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr3:105589200-105590800	Enhancers	Fetal Lung	lung
14	chr3:105589200-105591000	Enhancers	Stomach Mucosa	stomach
15	chr3:105589200-105592400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr3:105589200-105601200	Weak transcription	Colon Smooth Muscle	Colon
17	chr3:105589400-105590200	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr3:105589400-105590200	Weak transcription	Fetal Kidney	kidney
19	chr3:105589400-105590200	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr3:105589400-105594400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr3:105589400-105596400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr3:105589400-105596800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr3:105589600-105590000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr3:105589600-105590000	Enhancers	Fetal Brain Female	brain
25	chr3:105589600-105590200	Weak transcription	Fetal Intestine Large	intestine
26	chr3:105589600-105590800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr3:105589600-105590800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr3:105589600-105594600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr3:105589800-105590000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr3:105589800-105590200	Enhancers	K562	blood
31	chr3:105589800-105590600	Weak transcription	NHDF-Ad	bronchial
32	chr3:105589800-105590800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr3:105589800-105591400	Weak transcription	Osteobl	bone
34	chr3:105589800-105595000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr3:105589800-105595400	Weak transcription	Primary T cells from cord blood	blood
36	chr3:105589800-105595800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr3:105589800-105595800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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