Variant report

Variant	rs2686342
Chromosome Location	chr12:121685188-121685189
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121684993..121686828-chr12:121732453..121734188,2	K562	blood:
2	chr12:121681997..121683544-chr12:121683866..121685441,2	K562	blood:
3	chr12:121648201..121650106-chr12:121683652..121685529,2	K562	blood:
4	chr12:121683810..121686610-chr12:121699891..121701425,2	K562	blood:
5	chr12:121685040..121687317-chr12:121689126..121690781,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1063843	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1140886	0.85[MEX][hapmap];0.85[AMR][1000 genomes]
rs1653591	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1653594	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2668247	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2686338	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2686340	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2686344	0.88[CHB][hapmap];0.97[CHD][hapmap];0.88[JPT][hapmap];0.84[LWK][hapmap];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2686345	0.83[CHB][hapmap];0.97[CHD][hapmap];0.88[JPT][hapmap];0.84[LWK][hapmap];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2686386	0.80[CHB][hapmap];0.87[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 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
9	nsv455731	chr12:121668254-121687174	Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv560456	chr12:121668254-121687174	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2686342	CAMKK2	cis	cerebellum	SCAN
rs2686342	CAMKK2	cis	lymphoblastoid	seeQTL
rs2686342	ACADS	cis	parietal	SCAN
rs2686342	CAMKK2	cis	multi-tissue	Pritchard
rs2686342	GPR109B	cis	cerebellum	SCAN
rs2686342	MLXIP	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121653200-121698800	Weak transcription	Fetal Heart	heart
2	chr12:121662800-121690600	Weak transcription	Fetal Brain Male	brain
3	chr12:121667800-121685200	Weak transcription	Hela-S3	cervix
4	chr12:121670200-121689400	Strong transcription	Fetal Brain Female	brain
5	chr12:121670600-121695000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:121671200-121686200	Weak transcription	Small Intestine	intestine
7	chr12:121674400-121687800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:121674600-121692800	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr12:121674600-121704200	Strong transcription	Brain Germinal Matrix	brain
10	chr12:121677400-121686800	Weak transcription	HUVEC	blood vessel
11	chr12:121677400-121688000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr12:121677400-121695600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:121677400-121717000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:121677400-121717200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr12:121677600-121688400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:121678600-121690400	Weak transcription	Psoas Muscle	Psoas
17	chr12:121679000-121713000	Strong transcription	Fetal Intestine Large	intestine
18	chr12:121679200-121709200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:121679200-121714400	Weak transcription	Right Atrium	heart
20	chr12:121679400-121699000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr12:121679400-121713800	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr12:121679600-121685200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:121679600-121685800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:121679600-121686000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:121679600-121687000	Weak transcription	NHEK	skin
26	chr12:121679600-121688400	Weak transcription	HSMM	muscle
27	chr12:121679600-121690800	Weak transcription	K562	blood
28	chr12:121679600-121708800	Strong transcription	Fetal Muscle Leg	muscle
29	chr12:121679600-121709200	Strong transcription	Stomach Smooth Muscle	stomach
30	chr12:121679600-121713000	Strong transcription	Liver	Liver
31	chr12:121679600-121732600	Strong transcription	Fetal Intestine Small	intestine
32	chr12:121679800-121687800	Weak transcription	NHDF-Ad	bronchial
33	chr12:121679800-121690400	Strong transcription	Fetal Stomach	stomach
34	chr12:121679800-121694600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:121679800-121703200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr12:121679800-121709000	Strong transcription	Fetal Muscle Trunk	muscle
37	chr12:121679800-121713000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr12:121679800-121713600	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr12:121680000-121686000	Strong transcription	Spleen	Spleen
40	chr12:121680000-121709800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr12:121680200-121690600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr12:121680400-121685200	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr12:121680400-121686200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr12:121680400-121687400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr12:121680400-121690600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr12:121680600-121685200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr12:121680800-121689000	Strong transcription	Right Ventricle	heart
48	chr12:121680800-121713800	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr12:121681000-121689400	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr12:121681000-121709000	Strong transcription	Adipose Nuclei	Adipose

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