Variant report

Variant	rs1204008
Chromosome Location	chr2:19985938-19985939
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:19984516..19987082-chr2:19990162..19992121,2	MCF-7	breast:
2	chr2:19983582..19988390-chr2:19994942..20000184,6	MCF-7	breast:
3	chr2:19984950..19987899-chr2:19994485..19997173,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1204005	0.82[AMR][1000 genomes]
rs1204006	0.89[AMR][1000 genomes]
rs1204007	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1204009	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2348018	0.84[AMR][1000 genomes]
rs60681070	0.94[ASN][1000 genomes]
rs9679438	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873710	chr2:19908539-20026319	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv873711	chr2:19950864-20073860	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv873712	chr2:19955245-20131079	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
4	nsv873713	chr2:19955245-20144372	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
5	nsv581154	chr2:19974697-19995470	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv3405315	chr2:19981971-19986169	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv1847856	chr2:19983563-19989402	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv1850703	chr2:19983563-20011972	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:19983000-19986800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:19984200-19987000	Enhancers	HMEC	breast
3	chr2:19984200-19987800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:19984600-19986200	Enhancers	Fetal Muscle Trunk	muscle
5	chr2:19984600-19986800	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr2:19984600-19987000	Enhancers	Osteobl	bone
7	chr2:19984600-19987800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:19984800-19986000	Enhancers	Fetal Muscle Leg	muscle
9	chr2:19984800-19986400	Enhancers	Left Ventricle	heart
10	chr2:19984800-19986800	Enhancers	Adipose Nuclei	Adipose
11	chr2:19984800-19986800	Enhancers	Psoas Muscle	Psoas
12	chr2:19984800-19987000	Enhancers	Hela-S3	cervix
13	chr2:19984800-19987200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:19984800-19987200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:19985000-19986000	Weak transcription	HUVEC	blood vessel
16	chr2:19985200-19986000	Enhancers	K562	blood
17	chr2:19985200-19986400	Enhancers	Right Ventricle	heart
18	chr2:19985200-19986800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:19985200-19986800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:19985200-19986800	Enhancers	Aorta	Aorta
21	chr2:19985200-19986800	Enhancers	NHEK	skin
22	chr2:19985200-19987000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:19985200-19987000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:19985200-19987000	Enhancers	NHDF-Ad	bronchial
25	chr2:19985200-19987200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:19985200-19987200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:19985200-19987200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:19985200-19990200	Weak transcription	Right Atrium	heart
29	chr2:19985400-19986800	Enhancers	NH-A	brain
30	chr2:19985400-19987200	Enhancers	NHLF	lung
31	chr2:19985400-19987400	Enhancers	HSMM	muscle
32	chr2:19985400-19987800	Enhancers	A549	lung
33	chr2:19985600-19986400	Enhancers	GM12878-XiMat	blood
34	chr2:19985600-19986800	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr2:19985600-19987400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:19985800-19986200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:19985800-19986800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:19985800-19987000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:19985800-19987000	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr2:19985800-19987000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:19985800-19987000	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr2:19985800-19987200	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr2:19985800-19987200	Enhancers	Placenta Amnion	Placenta Amnion
44	chr2:19985800-19987600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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