Variant report

Variant	rs3769528
Chromosome Location	chr2:33471192-33471193
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33272260..33273940-chr2:33470694..33472711,2	MCF-7	breast:
2	chr2:33470293..33473165-chr2:33474172..33476840,3	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10495788	0.89[CHB][hapmap];1.00[EUR][1000 genomes]
rs11685108	1.00[CHB][hapmap];0.90[CHD][hapmap]
rs17012917	1.00[MEX][hapmap]
rs3754830	0.95[CHB][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap]
rs3769529	0.95[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3769534	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3769547	0.90[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3820912	1.00[EUR][1000 genomes]
rs59246149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6708335	0.95[CHB][hapmap];0.90[JPT][hapmap]

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	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

Variant related diseases (count:2)

Disease	PMID	Source
Height	25429064	GWAS catalog
Height	20189936	GWAS catalog

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33403800-33489800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:33442800-33471400	Weak transcription	Psoas Muscle	Psoas
3	chr2:33449400-33475400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:33463800-33471400	Weak transcription	Aorta	Aorta
5	chr2:33464200-33471800	Weak transcription	Colon Smooth Muscle	Colon
6	chr2:33465000-33471600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr2:33466400-33497400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:33466600-33471400	Weak transcription	Left Ventricle	heart
9	chr2:33466600-33500800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:33466800-33491200	Weak transcription	Right Ventricle	heart
11	chr2:33467800-33474000	Weak transcription	Fetal Heart	heart
12	chr2:33467800-33475600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr2:33468200-33475800	Weak transcription	Ovary	ovary
14	chr2:33468200-33491000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:33468400-33471200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:33468400-33471400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:33468400-33471400	Weak transcription	A549	lung
18	chr2:33468600-33475600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:33468600-33475600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:33468600-33477000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:33468800-33475400	Weak transcription	NHLF	lung
22	chr2:33469200-33471200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:33469200-33475600	Weak transcription	Fetal Stomach	stomach
24	chr2:33469600-33471400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:33469800-33475800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:33469800-33476000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr2:33469800-33486200	Weak transcription	NHDF-Ad	bronchial
28	chr2:33470400-33472200	Strong transcription	Osteobl	bone
29	chr2:33470400-33472400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:33470400-33479400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:33470600-33472200	Enhancers	Fetal Kidney	kidney
32	chr2:33470800-33473200	Enhancers	Fetal Lung	lung
33	chr2:33471000-33473200	Strong transcription	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links