Variant report

Variant	rs7172251
Chromosome Location	chr15:41052452-41052453
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:41050847..41052798-chr15:41135268..41136987,2	K562	blood:

Variant related genes	Relation type
ENSG00000261183	Chromatin interaction
ENSG00000166145	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs16971013	0.83[AMR][1000 genomes]
rs16971015	0.83[AMR][1000 genomes]
rs2004043	0.83[AMR][1000 genomes]
rs2412552	0.83[AMR][1000 genomes]
rs28480346	0.83[AMR][1000 genomes]
rs28498351	0.83[AMR][1000 genomes]
rs28718778	0.83[AMR][1000 genomes]
rs58036350	0.83[AMR][1000 genomes]
rs61317135	0.83[AMR][1000 genomes]
rs6492966	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7165694	0.83[AMR][1000 genomes]
rs7182456	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398510	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398512	0.83[AMR][1000 genomes]
rs934783	0.83[AMR][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	nsv1053173	chr15:40933163-41094127	Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv542363	chr15:40933163-41094127	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	esv1819092	chr15:41017682-41255750	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv904102	chr15:41046883-41201699	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41048000-41055000	Weak transcription	Pancreas	Pancrea
2	chr15:41048000-41055200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr15:41048000-41055200	Weak transcription	Brain Substantia Nigra	brain
4	chr15:41048000-41055200	Weak transcription	NH-A	brain
5	chr15:41048000-41055400	Weak transcription	Brain Angular Gyrus	brain
6	chr15:41048000-41055400	Weak transcription	Right Atrium	heart
7	chr15:41048200-41054600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr15:41048200-41055200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr15:41048200-41055200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr15:41048200-41055400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr15:41048200-41055400	Weak transcription	Liver	Liver
12	chr15:41048200-41055400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr15:41048200-41055400	Weak transcription	A549	lung
14	chr15:41048400-41055000	Weak transcription	Lung	lung
15	chr15:41048400-41055000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr15:41048400-41055200	Weak transcription	Colon Smooth Muscle	Colon
17	chr15:41048400-41055400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr15:41049200-41055200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr15:41049200-41055400	Weak transcription	GM12878-XiMat	blood
20	chr15:41049400-41054400	Weak transcription	Fetal Intestine Small	intestine
21	chr15:41049400-41054800	Weak transcription	Hela-S3	cervix
22	chr15:41049800-41054400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr15:41049800-41054600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr15:41049800-41054600	Weak transcription	Fetal Intestine Large	intestine
25	chr15:41049800-41054800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr15:41049800-41055400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr15:41050600-41054800	Weak transcription	K562	blood
28	chr15:41051200-41052600	Enhancers	HepG2	liver
29	chr15:41052200-41052800	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr15:41052200-41053000	Enhancers	Fetal Thymus	thymus
31	chr15:41052200-41053200	Enhancers	Thymus	Thymus

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