Variant report

Variant	rs7288735
Chromosome Location	chr22:31679546-31679547
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31674730..31677277-chr22:31677970..31680795,3	K562	blood:
2	chr22:31678127..31679737-chr22:31693354..31695719,2	MCF-7	breast:
3	chr22:31675823..31681003-chr22:31682955..31686672,6	MCF-7	breast:
4	chr22:31635408..31638175-chr22:31677816..31680372,2	MCF-7	breast:
5	chr22:31671853..31673887-chr22:31677470..31679780,2	MCF-7	breast:
6	chr22:31675502..31680244-chr22:31686864..31689429,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100100	Chromatin interaction
ENSG00000228839	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11703927	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166373	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12167361	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13056815	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13057841	0.80[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs131200	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs131202	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs131209	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs131213	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs131219	0.89[EUR][1000 genomes]
rs140074	1.00[CEU][hapmap];0.85[CHB][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs140077	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2009132	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2013254	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2413048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28523714	0.84[EUR][1000 genomes]
rs28715	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28716	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28813120	0.95[EUR][1000 genomes]
rs34873968	0.92[AFR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4820045	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs4820961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820969	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5753558	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs5753576	0.89[EUR][1000 genomes]
rs5994376	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5994397	0.92[CEU][hapmap]
rs5997887	0.81[EUR][1000 genomes]
rs5997900	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5997909	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5997919	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.91[AFR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5997929	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997932	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997938	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5997960	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5997971	0.91[CEU][hapmap];0.80[EUR][1000 genomes]
rs6518737	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6518745	0.92[CEU][hapmap]
rs713947	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7285171	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.91[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs7286648	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7287402	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7288643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7289189	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7289337	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs739427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8141987	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8143002	0.92[AFR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs926928	0.91[CEU][hapmap]
rs9606835	0.86[EUR][1000 genomes]
rs9619169	0.81[EUR][1000 genomes]
rs9619187	0.96[EUR][1000 genomes]
rs9621216	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9621221	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9621227	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]

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	nsv459871	chr22:31551160-31680624	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	nsv588893	chr22:31551160-31680624	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS 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 lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1067003	chr22:31558663-31697093	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1058844	chr22:31597104-31725296	Weak transcription Enhancers 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	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7288735	SFI1	cis	Thyroid	GTEx
rs7288735	DRG1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31654000-31680400	Strong transcription	Lung	lung
2	chr22:31654000-31685600	Strong transcription	Fetal Stomach	stomach
3	chr22:31654200-31680200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr22:31654200-31680400	Strong transcription	Sigmoid Colon	Sigmoid Colon
5	chr22:31654400-31679600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr22:31655400-31680800	Weak transcription	K562	blood
7	chr22:31657800-31681200	Strong transcription	Adipose Nuclei	Adipose
8	chr22:31659000-31685600	Weak transcription	Psoas Muscle	Psoas
9	chr22:31666000-31682600	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr22:31666000-31684200	Strong transcription	Aorta	Aorta
11	chr22:31667000-31684600	Weak transcription	Right Atrium	heart
12	chr22:31668400-31681200	Strong transcription	NHLF	lung
13	chr22:31668800-31680400	Strong transcription	Duodenum Smooth Muscle	Duodenum
14	chr22:31669000-31680200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr22:31669000-31680400	Strong transcription	Brain Anterior Caudate	brain
16	chr22:31669000-31682200	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr22:31669000-31682400	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr22:31669000-31685600	Weak transcription	Fetal Brain Male	brain
19	chr22:31669000-31686000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr22:31669200-31682600	Strong transcription	Stomach Smooth Muscle	stomach
21	chr22:31669600-31680400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr22:31670000-31680600	Strong transcription	Primary B cells from peripheral blood	blood
23	chr22:31670600-31681000	Genic enhancers	Primary T cells fromperipheralblood	blood
24	chr22:31671200-31684600	Weak transcription	Fetal Heart	heart
25	chr22:31671400-31680200	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr22:31671600-31679600	Strong transcription	Fetal Intestine Small	intestine
27	chr22:31671600-31681200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr22:31671800-31681000	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr22:31671800-31686200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr22:31672000-31680400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr22:31672600-31685600	Strong transcription	Brain Germinal Matrix	brain
32	chr22:31672800-31680600	Strong transcription	Primary B cells from cord blood	blood
33	chr22:31673000-31681800	Strong transcription	Placenta	Placenta
34	chr22:31673800-31680200	Strong transcription	Brain Substantia Nigra	brain
35	chr22:31673800-31685600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr22:31674000-31680400	Strong transcription	Brain Hippocampus Middle	brain
37	chr22:31674000-31680600	Strong transcription	Brain Angular Gyrus	brain
38	chr22:31674000-31681000	Strong transcription	Colonic Mucosa	Colon
39	chr22:31674000-31683800	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr22:31674200-31680800	Strong transcription	Right Ventricle	heart
41	chr22:31674200-31682600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr22:31674200-31685400	Strong transcription	Fetal Brain Female	brain
43	chr22:31674400-31680600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr22:31674400-31686400	Weak transcription	Fetal Kidney	kidney
45	chr22:31674400-31686400	Weak transcription	NHDF-Ad	bronchial
46	chr22:31674600-31680400	Strong transcription	Duodenum Mucosa	Duodenum
47	chr22:31674600-31682600	Strong transcription	Rectal Smooth Muscle	rectum
48	chr22:31674800-31680400	Strong transcription	Brain Cingulate Gyrus	brain
49	chr22:31674800-31680400	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr22:31675200-31680400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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