Variant report

Variant	rs13391252
Chromosome Location	chr2:74232271-74232272
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:74153966..74155499-chr2:74229025..74232283,3	K562	blood:
2	chr2:74225172..74227834-chr2:74230974..74232570,2	K562	blood:
3	chr2:74230315..74232342-chr2:74308990..74310979,2	K562	blood:
4	chr2:74230957..74233519-chr2:74346140..74348157,2	K562	blood:
5	chr2:74230663..74232784-chr2:74237198..74239379,3	K562	blood:
6	chr2:74152377..74154629-chr2:74231322..74233632,2	MCF-7	breast:
7	chr2:74230868..74232942-chr2:74282306..74284674,2	K562	blood:

Variant related genes	Relation type
ENSG00000114956	Chromatin interaction
ENSG00000257800	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10165243	0.86[EUR][1000 genomes]
rs10166357	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10206797	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12713802	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13391360	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13391722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13404452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13416937	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28534414	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28569001	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34363691	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34961871	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35259799	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35972889	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4241258	0.87[EUR][1000 genomes]
rs7581252	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7608044	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011177	chr2:74167343-74239905	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	esv3584956	chr2:74197109-74317135	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv818048	chr2:74225434-74313080	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74226200-74232400	Weak transcription	Hela-S3	cervix
2	chr2:74230400-74236200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:74230400-74246800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:74230600-74232600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr2:74230600-74232600	Enhancers	Placenta	Placenta
6	chr2:74230600-74232800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr2:74230600-74233800	Genic enhancers	Fetal Intestine Small	intestine
8	chr2:74230600-74233800	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr2:74230600-74234000	Weak transcription	HUVEC	blood vessel
10	chr2:74230600-74234200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:74230600-74234200	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr2:74230600-74235000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr2:74230600-74240000	Weak transcription	Aorta	Aorta
14	chr2:74230600-74248200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr2:74230800-74232400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:74230800-74232400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:74230800-74232600	Flanking Active TSS	Brain Germinal Matrix	brain
18	chr2:74230800-74232600	Flanking Active TSS	Brain Hippocampus Middle	brain
19	chr2:74231000-74232800	Flanking Active TSS	Brain Anterior Caudate	brain
20	chr2:74231000-74232800	Enhancers	Fetal Lung	lung
21	chr2:74231000-74233000	Flanking Active TSS	Brain Substantia Nigra	brain
22	chr2:74231000-74233200	Genic enhancers	Fetal Stomach	stomach
23	chr2:74231000-74233800	Flanking Active TSS	Brain Cingulate Gyrus	brain
24	chr2:74231000-74233800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
25	chr2:74231000-74233800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:74231000-74234000	Weak transcription	Fetal Kidney	kidney
27	chr2:74231000-74234600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr2:74231000-74235000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr2:74231200-74232400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:74231200-74232400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr2:74231200-74232600	Weak transcription	Primary B cells from peripheral blood	blood
32	chr2:74231200-74232600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr2:74231200-74233000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr2:74231200-74233200	Genic enhancers	Esophagus	oesophagus
35	chr2:74231200-74233200	Genic enhancers	Fetal Muscle Trunk	muscle
36	chr2:74231200-74233800	Genic enhancers	Lung	lung
37	chr2:74231200-74234600	Genic enhancers	Fetal Thymus	thymus
38	chr2:74231200-74234800	Genic enhancers	GM12878-XiMat	blood
39	chr2:74231200-74236600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:74231200-74237400	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr2:74231200-74237800	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr2:74231200-74237800	Enhancers	Left Ventricle	heart
43	chr2:74231200-74240000	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr2:74231200-74246600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr2:74231400-74232600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:74231400-74232600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr2:74231400-74232800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:74231400-74232800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:74231400-74233200	Weak transcription	Colon Smooth Muscle	Colon
50	chr2:74231400-74233400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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