Variant report

Variant	rs73964401
Chromosome Location	chr2:100627773-100627774
allele	A/C
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	RAD21	chr2:100627674-100628345	IMR90	lung:	n/a	n/a
2	MAFK	chr2:100627612-100628553	IMR90	lung:	n/a	chr2:100628109-100628125 chr2:100628114-100628125 chr2:100628112-100628126 chr2:100628114-100628125 chr2:100628113-100628124
3	RCOR1	chr2:100626739-100631278	IMR90	lung:	n/a	n/a
4	POLR2A	chr2:100627740-100628634	U87	brain:	n/a	n/a
5	POLR2A	chr2:100627729-100631233	IMR90	lung:	n/a	n/a
6	GATA3	chr2:100627718-100628378	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr2:100627770-100628324	U87	brain:	n/a	n/a
8	POLR2A	chr2:100627686-100628934	U87	brain:	n/a	n/a
9	FOSL2	chr2:100627718-100628277	SK-N-SH	brain:	n/a	chr2:100628104-100628111
10	CEBPB	chr2:100627542-100628222	IMR90	lung:	n/a	n/a
11	TCF12	chr2:100627713-100628377	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
AFF3	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10199263	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11883471	1.00[EUR][1000 genomes]
rs11900758	1.00[EUR][1000 genomes]
rs17023314	1.00[EUR][1000 genomes]
rs34506074	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55983621	1.00[EUR][1000 genomes]
rs59644088	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59824534	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6707538	0.90[EUR][1000 genomes]
rs6758652	0.91[EUR][1000 genomes]
rs73964368	1.00[EUR][1000 genomes]
rs73964369	1.00[EUR][1000 genomes]
rs73964370	1.00[EUR][1000 genomes]
rs73964371	0.90[EUR][1000 genomes]
rs73964373	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964374	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964375	1.00[EUR][1000 genomes]
rs73964377	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964378	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964380	1.00[EUR][1000 genomes]
rs73964383	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964385	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964387	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964389	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73964391	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964394	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964395	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964396	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964397	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7606572	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription 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	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100605400-100627800	Weak transcription	Right Ventricle	heart
2	chr2:100612000-100634200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:100615600-100638400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:100620200-100628000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:100620600-100635200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:100623600-100628000	Weak transcription	Aorta	Aorta
7	chr2:100623600-100632400	Weak transcription	Spleen	Spleen
8	chr2:100623600-100633400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:100623800-100630200	Weak transcription	Liver	Liver
10	chr2:100623800-100635200	Weak transcription	Brain Angular Gyrus	brain
11	chr2:100624000-100634200	Weak transcription	Adipose Nuclei	Adipose
12	chr2:100624200-100629400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:100624200-100632600	Weak transcription	Gastric	stomach
14	chr2:100624800-100657800	Weak transcription	Brain Germinal Matrix	brain
15	chr2:100625000-100631200	Enhancers	NHDF-Ad	bronchial
16	chr2:100625200-100628400	Enhancers	Colon Smooth Muscle	Colon
17	chr2:100625200-100628600	Enhancers	Rectal Smooth Muscle	rectum
18	chr2:100625200-100628800	Enhancers	Osteobl	bone
19	chr2:100625200-100630200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr2:100625200-100631200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:100625200-100631200	Enhancers	NHLF	lung
22	chr2:100625200-100634600	Weak transcription	Fetal Thymus	thymus
23	chr2:100625400-100628800	Enhancers	Fetal Stomach	stomach
24	chr2:100625400-100631200	Enhancers	Fetal Heart	heart
25	chr2:100625600-100632600	Weak transcription	Thymus	Thymus
26	chr2:100625800-100628000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:100625800-100630800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:100626200-100627800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:100626200-100627800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:100626200-100627800	Weak transcription	Fetal Kidney	kidney
31	chr2:100626200-100628200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:100626200-100628800	Enhancers	Placenta	Placenta
33	chr2:100626200-100629200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:100626400-100627800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:100626400-100627800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:100626600-100627800	Weak transcription	Primary T cells from cord blood	blood
37	chr2:100626600-100627800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr2:100626600-100628000	Weak transcription	Fetal Brain Male	brain
39	chr2:100626600-100632200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:100626600-100632200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:100626600-100632400	Weak transcription	Lung	lung
42	chr2:100626600-100632400	Weak transcription	Dnd41	blood
43	chr2:100626600-100634400	Weak transcription	Brain Cingulate Gyrus	brain
44	chr2:100626600-100637800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr2:100626800-100627800	Weak transcription	Primary B cells from cord blood	blood
46	chr2:100626800-100637600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr2:100627000-100628200	Enhancers	Fetal Muscle Leg	muscle
48	chr2:100627000-100637800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:100627200-100627800	Weak transcription	Fetal Lung	lung
50	chr2:100627200-100628200	Weak transcription	HSMMtube	muscle

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