Variant report

Variant	rs2272810
Chromosome Location	chr1:171511442-171511443
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10753138	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10913136	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10913141	0.82[YRI][hapmap]
rs10913165	0.80[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11587602	0.86[ASN][1000 genomes]
rs11589384	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12025905	0.82[YRI][hapmap]
rs12078309	0.87[ASN][1000 genomes]
rs12079162	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[YRI][hapmap];0.91[ASN][1000 genomes]
rs12239382	0.82[YRI][hapmap]
rs2207192	0.90[ASN][1000 genomes]
rs28831777	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3736679	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3817772	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4916387	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61814748	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6703132	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7536723	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv465639	chr1:171459507-171545051	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv548190	chr1:171459507-171545051	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2272810	FAM78B	cis	parietal	SCAN
rs2272810	ANKRD45	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171475800-171524400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:171481000-171528000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:171481200-171518800	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr1:171481200-171519200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:171481200-171519600	Strong transcription	Dnd41	blood
6	chr1:171481200-171520000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr1:171481200-171522400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:171481400-171519200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:171481400-171519800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr1:171481400-171520000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:171481400-171522800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr1:171481600-171519200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:171481600-171520600	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr1:171481800-171520000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr1:171481800-171520600	Strong transcription	Placenta	Placenta
16	chr1:171482000-171519800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:171482000-171520000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr1:171482000-171520400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:171482000-171520400	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr1:171482000-171522000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:171482000-171523000	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr1:171482000-171524400	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:171482200-171512000	Strong transcription	Primary T cells from cord blood	blood
24	chr1:171482200-171518400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:171482200-171519200	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr1:171482200-171520000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr1:171482200-171520000	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr1:171482200-171520400	Strong transcription	Duodenum Mucosa	Duodenum
29	chr1:171482200-171520600	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr1:171482200-171520600	Strong transcription	Fetal Thymus	thymus
31	chr1:171482200-171541800	Strong transcription	Primary B cells from peripheral blood	blood
32	chr1:171482400-171520000	Strong transcription	Liver	Liver
33	chr1:171482400-171520400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr1:171482600-171520600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr1:171483200-171513800	Strong transcription	Fetal Muscle Trunk	muscle
36	chr1:171483200-171520400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
37	chr1:171483200-171520600	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr1:171483600-171513200	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:171483600-171520400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:171485200-171513800	Strong transcription	Fetal Intestine Large	intestine
41	chr1:171491400-171513800	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr1:171494800-171519800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:171495200-171524800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr1:171496000-171515400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr1:171496000-171520000	Strong transcription	Adipose Nuclei	Adipose
46	chr1:171496400-171513200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:171496400-171516000	Strong transcription	Osteobl	bone
48	chr1:171496400-171519800	Strong transcription	Primary B cells from cord blood	blood
49	chr1:171496600-171513800	Strong transcription	Placenta Amnion	Placenta Amnion
50	chr1:171496600-171517800	Strong transcription	HUVEC	blood vessel

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