Variant report

Variant	rs12193156
Chromosome Location	chr6:13203570-13203571
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	chr6:13203383..13206957-chr6:13207138..13210115,4	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10948504	0.94[GIH][hapmap];0.81[TSI][hapmap]
rs1150595	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1150598	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1150600	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs11760186	0.95[CEU][hapmap]
rs12198274	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.97[TSI][hapmap];0.85[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1223562	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1223563	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1232378	0.80[EUR][1000 genomes]
rs12526983	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13191209	0.90[EUR][1000 genomes]
rs13206277	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34624425	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35207258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3916163	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs4711936	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4715145	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4715146	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4715147	1.00[CEU][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4715150	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62385558	0.86[AMR][1000 genomes];0.93[EUR][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	nsv600992	chr6:12961922-13218549	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12193156	ELOVL2	cis	cerebellum	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13178800-13217400	Weak transcription	Fetal Muscle Leg	muscle
2	chr6:13182000-13205400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr6:13182000-13211800	Weak transcription	Fetal Brain Female	brain
4	chr6:13182000-13212000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr6:13182000-13230000	Weak transcription	Brain Angular Gyrus	brain
6	chr6:13183000-13207000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr6:13184000-13220800	Weak transcription	Brain Germinal Matrix	brain
8	chr6:13185200-13204000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr6:13185200-13205200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:13185400-13204800	Weak transcription	Lung	lung
11	chr6:13185400-13205800	Weak transcription	Aorta	Aorta
12	chr6:13185400-13205800	Weak transcription	Pancreas	Pancrea
13	chr6:13187400-13217400	Weak transcription	Right Atrium	heart
14	chr6:13191200-13204400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:13191800-13210800	Weak transcription	Fetal Heart	heart
16	chr6:13192000-13205600	Weak transcription	Right Ventricle	heart
17	chr6:13192400-13216800	Weak transcription	Fetal Intestine Small	intestine
18	chr6:13193400-13205400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr6:13195600-13205000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:13195800-13206200	Weak transcription	Brain Hippocampus Middle	brain
21	chr6:13195800-13207400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:13197800-13204600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr6:13198400-13205200	Weak transcription	Left Ventricle	heart
24	chr6:13198800-13206800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr6:13201400-13216200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr6:13201600-13206000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr6:13201600-13209000	Weak transcription	Ovary	ovary
28	chr6:13201600-13215600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:13202200-13205800	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr6:13202400-13213200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:13202400-13218400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr6:13202800-13207800	Strong transcription	Brain Anterior Caudate	brain
33	chr6:13203000-13203800	Enhancers	K562	blood
34	chr6:13203000-13216800	Weak transcription	Adipose Nuclei	Adipose
35	chr6:13203200-13203800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr6:13203200-13204000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:13203200-13204000	Enhancers	HepG2	liver
38	chr6:13203200-13204200	Enhancers	Primary B cells from cord blood	blood
39	chr6:13203200-13207800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr6:13203200-13230200	Weak transcription	Fetal Stomach	stomach
41	chr6:13203400-13204000	Enhancers	Primary monocytes fromperipheralblood	blood

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