Variant report

Variant	rs11057290
Chromosome Location	chr12:122736320-122736321
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	chr12:122733009..122734782-chr12:122736094..122737816,2	K562	blood:

Variant related genes	Relation type
ENSG00000139719	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11061368	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11836373	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12580043	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1882581	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2089887	0.81[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35422129	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58134429	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60995900	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61954363	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61954365	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954366	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954367	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954368	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61954369	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954370	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954371	0.94[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs61954374	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954376	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954377	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954378	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61954381	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954382	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954383	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954393	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954394	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954395	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954397	0.88[EUR][1000 genomes]
rs61955588	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61955589	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7132789	0.86[EUR][1000 genomes]
rs7303975	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311354	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7953290	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964780	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7968764	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7979955	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs907485	0.95[EUR][1000 genomes];1.00[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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122711800-122749600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:122711800-122749600	Weak transcription	Psoas Muscle	Psoas
3	chr12:122712400-122748600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr12:122713800-122748800	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr12:122716000-122749600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:122716000-122750200	Weak transcription	Fetal Kidney	kidney
7	chr12:122717200-122750000	Weak transcription	Fetal Heart	heart
8	chr12:122719000-122745400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:122720600-122750000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:122720600-122750200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:122721600-122750400	Weak transcription	Small Intestine	intestine
12	chr12:122722000-122741000	Weak transcription	Brain Substantia Nigra	brain
13	chr12:122722000-122750200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:122729400-122742400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr12:122729600-122741200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr12:122730600-122742800	Weak transcription	GM12878-XiMat	blood
17	chr12:122730600-122749600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr12:122730800-122741000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr12:122730800-122748800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:122731000-122746800	Strong transcription	Fetal Intestine Small	intestine
21	chr12:122731200-122737800	Strong transcription	Stomach Smooth Muscle	stomach
22	chr12:122731200-122748200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:122731400-122748600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:122731800-122748200	Strong transcription	Fetal Intestine Large	intestine
25	chr12:122731800-122748600	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr12:122731800-122748800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:122732200-122736400	Strong transcription	Placenta	Placenta
28	chr12:122732200-122737800	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr12:122732200-122748200	Strong transcription	Fetal Stomach	stomach
30	chr12:122732400-122748200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr12:122732600-122737800	Strong transcription	Fetal Brain Female	brain
32	chr12:122732600-122737800	Strong transcription	Lung	lung
33	chr12:122732600-122747800	Strong transcription	Thymus	Thymus
34	chr12:122732800-122738000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:122732800-122748600	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr12:122733000-122736800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr12:122733000-122741200	Weak transcription	HUVEC	blood vessel
38	chr12:122733200-122736800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:122733200-122739400	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr12:122733400-122745800	Weak transcription	Right Ventricle	heart
41	chr12:122733400-122749600	Weak transcription	Colonic Mucosa	Colon
42	chr12:122733400-122750000	Weak transcription	HSMMtube	muscle
43	chr12:122733600-122744000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr12:122733600-122749600	Weak transcription	HMEC	breast
45	chr12:122734200-122749600	Weak transcription	HepG2	liver
46	chr12:122734600-122738800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr12:122734600-122744000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:122734800-122740000	Strong transcription	Primary B cells from cord blood	blood
49	chr12:122735200-122740800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr12:122735200-122740800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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