Variant report

Variant	rs11172388
Chromosome Location	chr12:58337132-58337133
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:58335319..58338203-chr12:58340129..58346317,10	K562	blood:
2	chr12:58335072..58337363-chr12:62995466..62997804,2	K562	blood:
3	chr12:58336001..58339574-chr12:58342620..58345484,3	MCF-7	breast:
4	chr12:58336020..58338569-chr12:58461127..58463440,2	MCF-7	breast:
5	chr12:58334540..58337378-chr12:58339251..58345306,6	MCF-7	breast:
6	chr12:58164836..58167188-chr12:58333922..58337646,3	K562	blood:

Variant related genes	Relation type
ENSG00000123427	Chromatin interaction
ENSG00000257354	Chromatin interaction
ENSG00000037897	Chromatin interaction
ENSG00000166896	Chromatin interaction
ENSG00000221949	Chromatin interaction
ENSG00000199179	Chromatin interaction
ENSG00000257921	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10431506	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10747788	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10783857	0.86[AMR][1000 genomes]
rs10783858	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10877039	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10877040	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10877041	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11172387	0.81[EUR][1000 genomes]
rs11172389	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2372309	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3751325	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3751326	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3751327	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4373979	0.81[EUR][1000 genomes]
rs4509811	0.81[EUR][1000 genomes]
rs4534624	0.81[EUR][1000 genomes]
rs4590915	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4760174	0.81[EUR][1000 genomes]
rs4760344	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4760346	0.80[EUR][1000 genomes]
rs7136981	0.81[EUR][1000 genomes]
rs7298370	0.81[EUR][1000 genomes]
rs7358584	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9971803	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559046	chr12:58162085-58478598	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	261 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs11172388	XRCC6BP1	cis	Esophagus Mucosa	GTEx
rs11172388	XRCC6BP1	cis	Muscle Skeletal	GTEx
rs11172388	XRCC6BP1	Cis_1M	lymphoblastoid	RTeQTL
rs11172388	XRCC6BP1	cis	Thyroid	GTEx
rs11172388	XRCC6BP1	cis	Artery Aorta	GTEx
rs11172388	XRCC6BP1	cis	Whole Blood	GTEx
rs11172388	XRCC6BP1	cis	Esophagus Muscularis	GTEx
rs11172388	XRCC6BP1	cis	Nerve Tibial	GTEx
rs11172388	XRCC6BP1	cis	Stomach	GTEx
rs11172388	XRCC6BP1	cis	lung	GTEx
rs11172388	XRCC6BP1	cis	Artery Tibial	GTEx
rs11172388	XRCC6BP1	cis	Heart Left Ventricle	GTEx
rs11172388	XRCC6BP1	cis	Skin Sun Exposed Lower leg	GTEx
rs11172388	XRCC6BP1	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58335000-58337600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:58335600-58337200	Flanking Active TSS	Dnd41	blood
3	chr12:58335800-58343000	Weak transcription	Ovary	ovary
4	chr12:58336000-58337200	Enhancers	Primary B cells from peripheral blood	blood
5	chr12:58336000-58337200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr12:58336000-58337200	Active TSS	Colonic Mucosa	Colon
7	chr12:58336000-58337600	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr12:58336000-58344800	Weak transcription	Left Ventricle	heart
9	chr12:58336000-58345200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:58336000-58347600	Weak transcription	Esophagus	oesophagus
11	chr12:58336000-58348400	Weak transcription	Gastric	stomach
12	chr12:58336000-58348600	Weak transcription	Aorta	Aorta
13	chr12:58336000-58348600	Weak transcription	Lung	lung
14	chr12:58336000-58351000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr12:58336000-58351000	Weak transcription	Colon Smooth Muscle	Colon
16	chr12:58336000-58351200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:58336000-58351200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:58336000-58351200	Weak transcription	Spleen	Spleen
19	chr12:58336000-58353000	Weak transcription	Small Intestine	intestine
20	chr12:58336200-58337200	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr12:58336200-58337200	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr12:58336200-58337200	Enhancers	Liver	Liver
23	chr12:58336200-58337200	Enhancers	HepG2	liver
24	chr12:58336200-58337200	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr12:58336200-58337600	Enhancers	Primary B cells from cord blood	blood
26	chr12:58336200-58337800	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr12:58336200-58337800	Enhancers	Primary hematopoietic stem cells	blood
28	chr12:58336200-58338200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr12:58336200-58338400	Enhancers	Fetal Thymus	thymus
30	chr12:58336200-58339600	Weak transcription	Fetal Stomach	stomach
31	chr12:58336200-58340800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr12:58336200-58344800	Weak transcription	Duodenum Mucosa	Duodenum
33	chr12:58336200-58345000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr12:58336200-58346600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr12:58336200-58346600	Weak transcription	Fetal Muscle Leg	muscle
36	chr12:58336200-58347600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr12:58336200-58350600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:58336200-58350600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:58336200-58350800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:58336200-58351000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:58336200-58351000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr12:58336200-58351000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr12:58336200-58351200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:58336200-58351200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:58336200-58351200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr12:58336200-58351200	Weak transcription	Fetal Intestine Small	intestine
47	chr12:58336200-58351200	Weak transcription	Placenta	Placenta
48	chr12:58336200-58351400	Weak transcription	Brain Anterior Caudate	brain
49	chr12:58336200-58351400	Weak transcription	Fetal Lung	lung
50	chr12:58336200-58351600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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