Variant report

Variant	rs17122617
Chromosome Location	chr12:48461451-48461452
allele	A/G
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	POLR2A	chr12:48461425-48461471	GM12878	blood:	n/a	n/a
2	EP300	chr12:48461168-48461456	K562	blood:	n/a	chr12:48461379-48461393

No.	Distal block	Cell Line	Cell type
1	chr12:48446661..48450217-chr12:48458596..48461556,3	K562	blood:
2	chr12:48459890..48462494-chr12:48464118..48467480,3	K562	blood:
3	chr12:48460907..48463410-chr12:48550372..48552921,3	K562	blood:

Variant related genes	Relation type
SENP1	TF binding region
ENSG00000177981	Chromatin interaction
ENSG00000240399	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11168351	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs12579815	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12580309	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs12581263	1.00[EUR][1000 genomes]
rs12819124	1.00[JPT][hapmap]
rs17122615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1814231	1.00[EUR][1000 genomes]
rs41272785	1.00[EUR][1000 genomes]
rs41369448	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs60275794	1.00[EUR][1000 genomes]
rs915920	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[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	nsv832401	chr12:48347453-48477999	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48432000-48463400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:48432200-48498400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:48435200-48476200	Weak transcription	Stomach Mucosa	stomach
4	chr12:48437200-48489000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:48439200-48468000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:48441400-48482600	Weak transcription	Small Intestine	intestine
7	chr12:48441600-48468000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:48443000-48478800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:48444200-48474600	Weak transcription	Gastric	stomach
10	chr12:48444800-48468000	Weak transcription	Spleen	Spleen
11	chr12:48449400-48464400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:48452000-48468600	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:48452000-48468800	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:48452000-48468800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:48452000-48469400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:48452200-48461600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:48452200-48468600	Strong transcription	NH-A	brain
18	chr12:48452200-48468800	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:48452200-48469000	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr12:48452200-48469600	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr12:48452200-48470000	Strong transcription	Placenta	Placenta
22	chr12:48452400-48461600	Strong transcription	Fetal Intestine Large	intestine
23	chr12:48452400-48463200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:48452400-48468800	Strong transcription	Adipose Nuclei	Adipose
25	chr12:48452400-48468800	Strong transcription	Duodenum Mucosa	Duodenum
26	chr12:48452400-48468800	Strong transcription	Fetal Thymus	thymus
27	chr12:48452400-48469600	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr12:48452600-48468400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr12:48452800-48461600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr12:48452800-48468000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr12:48452800-48468600	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr12:48453000-48461600	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr12:48453000-48462400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:48453000-48464800	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr12:48453000-48468400	Strong transcription	Fetal Lung	lung
36	chr12:48453000-48468800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:48453000-48469200	Weak transcription	Fetal Heart	heart
38	chr12:48453000-48498200	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr12:48453200-48469200	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr12:48453600-48461600	Strong transcription	Fetal Muscle Trunk	muscle
41	chr12:48453600-48469800	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr12:48453600-48471200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:48453800-48461800	Strong transcription	Fetal Muscle Leg	muscle
44	chr12:48453800-48466000	Weak transcription	Esophagus	oesophagus
45	chr12:48453800-48469000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:48453800-48469000	Strong transcription	Primary B cells from peripheral blood	blood
47	chr12:48453800-48469000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr12:48453800-48469000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr12:48453800-48469400	Strong transcription	A549	lung
50	chr12:48453800-48474800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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