Variant report

Variant	rs2686388
Chromosome Location	chr12:121658895-121658896
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121657033..121659452-chr12:121666561..121668360,2	K562	blood:
2	chr12:121653697..121655351-chr12:121657528..121659193,2	K562	blood:
3	chr12:121646473..121649457-chr12:121658577..121662737,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135124	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10774587	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10849855	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10849856	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10849858	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11065479	0.83[AMR][1000 genomes]
rs11065486	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1169720	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1169727	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1180051	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1182945	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1629287	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1653622	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1653623	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1718117	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2071271	0.87[ASN][1000 genomes]
rs2393849	0.90[ASN][1000 genomes]
rs2393850	0.89[ASN][1000 genomes]
rs25643	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2567980	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2567993	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2567994	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2668235	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2668252	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2686362	0.86[AMR][1000 genomes]
rs2686363	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2686387	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2942063	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58232824	0.90[ASN][1000 genomes]
rs6489799	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs725135	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7298368	0.87[ASN][1000 genomes]
rs930186	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs930187	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv899564	chr12:121641509-121689798	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv899565	chr12:121641509-121698785	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121648800-121660400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:121648800-121661400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:121648800-121666600	Weak transcription	Ovary	ovary
4	chr12:121649000-121659800	Weak transcription	Thymus	Thymus
5	chr12:121649000-121660000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr12:121649000-121660400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:121649000-121660600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:121649000-121660600	Weak transcription	Brain Germinal Matrix	brain
9	chr12:121649000-121661200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:121649000-121661200	Weak transcription	Esophagus	oesophagus
11	chr12:121649000-121665000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr12:121649000-121666600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:121649000-121675800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr12:121649000-121676200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr12:121649000-121676200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr12:121649000-121676600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr12:121649200-121659600	Weak transcription	Fetal Brain Female	brain
18	chr12:121649400-121660400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr12:121649400-121660600	Weak transcription	Brain Angular Gyrus	brain
20	chr12:121649400-121680200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:121649600-121660600	Weak transcription	Dnd41	blood
22	chr12:121650000-121660800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr12:121650000-121660800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr12:121652400-121675600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr12:121652600-121660600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr12:121652600-121664800	Weak transcription	Small Intestine	intestine
27	chr12:121652800-121661200	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr12:121653000-121659600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:121653200-121660600	Weak transcription	GM12878-XiMat	blood
30	chr12:121653200-121660800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:121653200-121661200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:121653200-121661200	Weak transcription	K562	blood
33	chr12:121653200-121665000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:121653200-121666400	Weak transcription	Colon Smooth Muscle	Colon
35	chr12:121653200-121675600	Weak transcription	HSMMtube	muscle
36	chr12:121653200-121698800	Weak transcription	Fetal Heart	heart
37	chr12:121653400-121661000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:121653400-121665000	Weak transcription	NHEK	skin
39	chr12:121653400-121673600	Weak transcription	Osteobl	bone
40	chr12:121653400-121677600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr12:121653400-121678600	Weak transcription	Right Atrium	heart
42	chr12:121653600-121660600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr12:121653600-121660600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:121653600-121660600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr12:121653600-121670200	Weak transcription	NHDF-Ad	bronchial
46	chr12:121653800-121660600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr12:121653800-121660600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr12:121654200-121660600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr12:121654600-121660200	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr12:121654600-121660200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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