Variant report

Variant	rs7577712
Chromosome Location	chr2:33357793-33357794
allele	C/T
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	CHD1	chr2:33357662-33363249	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33355814..33359074-chr2:33359730..33364790,5	K562	blood:

Variant related genes	Relation type
LTBP1	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10189552	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1037507	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1545551	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1563183	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1563184	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1563185	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs218188	0.82[CEU][hapmap];0.83[AMR][1000 genomes]
rs218192	0.83[AMR][1000 genomes]
rs218193	0.83[AMR][1000 genomes]
rs218198	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs218199	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs218200	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs218201	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs218203	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs218204	0.82[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs218205	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs218207	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2198567	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4670254	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs897091	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][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	nsv998167	chr2:33074313-33541100	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535623	chr2:33074313-33541100	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
5	esv33628	chr2:33257484-33455355	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1012946	chr2:33294522-33370391	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv535626	chr2:33294522-33370391	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv873789	chr2:33297967-33390188	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33336600-33358400	Weak transcription	HUVEC	blood vessel
2	chr2:33336800-33358200	Weak transcription	Liver	Liver
3	chr2:33346800-33358400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:33347400-33358000	Weak transcription	Ovary	ovary
5	chr2:33352200-33358400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:33353600-33358600	Weak transcription	HSMMtube	muscle
7	chr2:33353600-33359200	Weak transcription	Right Ventricle	heart
8	chr2:33354800-33358800	Enhancers	Fetal Lung	lung
9	chr2:33355000-33359400	Enhancers	Rectal Smooth Muscle	rectum
10	chr2:33355200-33357800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:33355200-33358400	Enhancers	Colon Smooth Muscle	Colon
12	chr2:33355400-33358600	Enhancers	NHDF-Ad	bronchial
13	chr2:33355600-33358000	Enhancers	Fetal Heart	heart
14	chr2:33355600-33358600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:33355800-33358200	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr2:33355800-33358400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:33355800-33358600	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr2:33355800-33358600	Enhancers	NHLF	lung
19	chr2:33355800-33359400	Enhancers	Fetal Muscle Leg	muscle
20	chr2:33356000-33357800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:33356000-33359000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr2:33356000-33359200	Enhancers	Brain Germinal Matrix	brain
23	chr2:33356200-33358000	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr2:33356200-33358000	Weak transcription	Aorta	Aorta
25	chr2:33356200-33358400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:33356400-33358400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:33356400-33359400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:33356600-33359400	Enhancers	Fetal Stomach	stomach
29	chr2:33357000-33359400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr2:33357200-33358200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:33357200-33358400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:33357200-33358400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:33357200-33358400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr2:33357200-33358600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:33357200-33358600	Weak transcription	HMEC	breast
36	chr2:33357200-33358800	Weak transcription	A549	lung
37	chr2:33357400-33357800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:33357400-33357800	Weak transcription	NH-A	brain
39	chr2:33357400-33358400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:33357400-33358600	Weak transcription	HSMM	muscle
41	chr2:33357400-33358800	Weak transcription	NHEK	skin
42	chr2:33357600-33357800	Enhancers	Right Atrium	heart
43	chr2:33357600-33358000	Weak transcription	Osteobl	bone
44	chr2:33357600-33358200	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr2:33357600-33358800	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr2:33357600-33359200	Enhancers	Left Ventricle	heart

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