Variant report

Variant	rs11355
Chromosome Location	chr12:75894746-75894747
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:75890543..75892939-chr12:75893042..75895529,2	MCF-7	breast:
2	chr12:75889808..75893135-chr12:75894450..75896351,3	K562	blood:
3	chr12:75879283..75886841-chr12:75892353..75898321,9	K562	blood:

Variant related genes	Relation type
ENSG00000257497	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11180552	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180560	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11540407	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11609405	0.80[ASN][1000 genomes]
rs11610328	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11611121	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11611609	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11612665	0.83[ASN][1000 genomes]
rs12425122	0.84[ASN][1000 genomes]
rs12811160	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12812559	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12815116	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12819511	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12822366	0.83[ASN][1000 genomes]
rs12822493	0.81[ASN][1000 genomes]
rs12822505	0.83[ASN][1000 genomes]
rs12826635	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12827668	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12827986	0.81[ASN][1000 genomes]
rs1501634	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs15513	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1552039	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1604381	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17217158	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17218895	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17818307	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1824981	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2054517	0.81[ASN][1000 genomes]
rs2070162	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2202105	0.83[ASN][1000 genomes]
rs2279244	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2306391	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34508642	0.83[ASN][1000 genomes]
rs35124104	0.84[ASN][1000 genomes]
rs35244242	0.83[ASN][1000 genomes]
rs35351465	0.83[ASN][1000 genomes]
rs35619460	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3741495	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3809118	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3809121	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4420306	0.83[ASN][1000 genomes]
rs4760596	0.83[ASN][1000 genomes]
rs56049502	0.81[ASN][1000 genomes]
rs61933361	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61933362	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933387	0.81[ASN][1000 genomes]
rs7961005	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492067	chr12:75415458-76077537	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv899313	chr12:75715330-76057811	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv428592	chr12:75766619-75936721	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11355	GLIPR1	Cis_1M	lymphoblastoid	RTeQTL
rs11355	KRR1	cis	Muscle Skeletal	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75874800-75895000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:75875600-75903400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:75875800-75903000	Weak transcription	Small Intestine	intestine
4	chr12:75875800-75903600	Weak transcription	Fetal Intestine Small	intestine
5	chr12:75876200-75903400	Weak transcription	Fetal Stomach	stomach
6	chr12:75876800-75895000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:75879200-75900600	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr12:75879800-75902000	Strong transcription	Primary B cells from cord blood	blood
9	chr12:75880600-75903800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:75882600-75903200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:75883200-75901800	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr12:75883400-75894800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr12:75883400-75902600	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr12:75883600-75901800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr12:75883600-75902200	Strong transcription	Primary B cells from peripheral blood	blood
16	chr12:75883800-75895000	Weak transcription	Right Ventricle	heart
17	chr12:75883800-75904800	Weak transcription	Esophagus	oesophagus
18	chr12:75884000-75895800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:75884000-75896600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:75884000-75899400	Strong transcription	HSMM	muscle
21	chr12:75884200-75899000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:75884200-75901200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:75884200-75901200	Strong transcription	NH-A	brain
24	chr12:75884200-75902200	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr12:75884400-75901600	Strong transcription	NHDF-Ad	bronchial
26	chr12:75884800-75899200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:75885000-75902200	Strong transcription	HUVEC	blood vessel
28	chr12:75885000-75902400	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr12:75885400-75894800	Weak transcription	HepG2	liver
30	chr12:75886200-75903200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:75886400-75899400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:75886600-75901400	Strong transcription	HMEC	breast
33	chr12:75886600-75903000	Strong transcription	Fetal Thymus	thymus
34	chr12:75886800-75902000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:75887000-75899200	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr12:75887000-75900600	Strong transcription	A549	lung
37	chr12:75887000-75902200	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr12:75887200-75901000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:75887200-75902200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr12:75887400-75898600	Strong transcription	Osteobl	bone
41	chr12:75887400-75901800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:75887400-75903000	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr12:75887600-75900400	Strong transcription	Primary hematopoietic stem cells	blood
44	chr12:75887600-75901200	Strong transcription	Dnd41	blood
45	chr12:75887600-75901800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:75887600-75902000	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr12:75887600-75902000	Strong transcription	Duodenum Mucosa	Duodenum
48	chr12:75887600-75902400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:75887800-75902600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:75888000-75903000	Weak transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links