Variant report

Variant	rs326205
Chromosome Location	chr5:7852282-7852283
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	GATA3	chr5:7851676-7852363	T-47D	breast:	n/a	chr5:7852189-7852199
2	GATA3	chr5:7851489-7852622	MCF-7	breast:	n/a	chr5:7852189-7852199
3	EP300	chr5:7851850-7852303	T-47D	breast:	n/a	chr5:7852188-7852197
4	GATA3	chr5:7851629-7852339	T-47D	breast:	n/a	chr5:7852189-7852199

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:7850851..7852971-chr5:7863121..7865145,2	MCF-7	breast:
2	chr5:7849253..7853514-chr5:7868734..7871211,5	MCF-7	breast:

Variant related genes	Relation type
C5orf49	TF binding region
ENSG00000124279	Chromatin interaction
ENSG00000124275	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs106848	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12186988	0.83[EUR][1000 genomes]
rs1482276	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs162023	0.93[CEU][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2388801	0.84[EUR][1000 genomes]
rs326200	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs326202	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs70940763	0.82[EUR][1000 genomes]
rs729126	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916892	chr5:7634377-8158890	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv949492	chr5:7682909-7953909	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv533983	chr5:7701457-8275379	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv461927	chr5:7757812-7854289	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv597004	chr5:7757812-7854289	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3436798	chr5:7849477-7852325	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs326205	ADCY2	cis	parietal	SCAN

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:7850000-7852400	Enhancers	Spleen	Spleen
2	chr5:7851000-7853000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr5:7851200-7852800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr5:7851200-7859600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr5:7851400-7852400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr5:7851400-7852600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:7851400-7852800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
8	chr5:7851400-7852800	Enhancers	Lung	lung
9	chr5:7851400-7852800	Enhancers	Right Atrium	heart
10	chr5:7851400-7853200	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr5:7851400-7857800	Weak transcription	Left Ventricle	heart
12	chr5:7851400-7858000	Weak transcription	HSMM	muscle
13	chr5:7851400-7859600	Weak transcription	Esophagus	oesophagus
14	chr5:7851400-7860000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr5:7851600-7852400	Active TSS	Fetal Brain Male	brain
16	chr5:7851600-7852600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:7851600-7852600	Bivalent Enhancer	Placenta	Placenta
18	chr5:7851600-7852800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr5:7851600-7852800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr5:7851600-7852800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:7851600-7852800	Enhancers	Pancreas	Pancrea
22	chr5:7851600-7853400	Enhancers	Fetal Lung	lung
23	chr5:7851600-7853400	Enhancers	Ovary	ovary
24	chr5:7851600-7857000	Weak transcription	Fetal Stomach	stomach
25	chr5:7851600-7857600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr5:7851600-7857600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:7851600-7857600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr5:7851600-7857600	Weak transcription	Brain Hippocampus Middle	brain
29	chr5:7851600-7857800	Weak transcription	Brain Angular Gyrus	brain
30	chr5:7851600-7857800	Weak transcription	Colon Smooth Muscle	Colon
31	chr5:7851600-7857800	Weak transcription	Fetal Intestine Large	intestine
32	chr5:7851600-7858000	Weak transcription	Adipose Nuclei	Adipose
33	chr5:7851600-7858200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr5:7851600-7859000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:7851600-7859200	Weak transcription	Fetal Brain Female	brain
36	chr5:7851600-7859800	Weak transcription	Psoas Muscle	Psoas
37	chr5:7851600-7859800	Weak transcription	Right Ventricle	heart
38	chr5:7851600-7860000	Weak transcription	Aorta	Aorta
39	chr5:7851600-7861600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr5:7851600-7861600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr5:7851600-7865000	Weak transcription	Small Intestine	intestine
42	chr5:7851600-7866400	Weak transcription	Fetal Heart	heart
43	chr5:7851800-7853000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr5:7851800-7857800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr5:7851800-7859200	Weak transcription	HMEC	breast
46	chr5:7851800-7859600	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr5:7851800-7861800	Weak transcription	Brain Substantia Nigra	brain
48	chr5:7851800-7868600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr5:7852000-7852400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr5:7852000-7852400	Enhancers	HepG2	liver

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