Variant report

Variant	rs12198274
Chromosome Location	chr6:13205629-13205630
allele	G/T
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:
2	chr11:64880804..64883495-chr6:13205397..13206917,2	K562	blood:

Variant related genes	Relation type
ENSG00000149809	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10948504	0.94[GIH][hapmap];0.84[TSI][hapmap]
rs1150595	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1150598	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1150600	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs11760186	0.95[CEU][hapmap];0.80[TSI][hapmap]
rs12193156	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	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1223563	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12526983	1.00[CEU][hapmap];0.85[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13191209	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs13206277	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34624425	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35207258	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3916163	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs4711936	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4715145	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.97[TSI][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4715146	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4715147	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4715150	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62385558	0.88[AMR][1000 genomes];0.92[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
rs12198274	ELOVL2	cis	cerebellum	SCAN

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13178800-13217400	Weak transcription	Fetal Muscle Leg	muscle
2	chr6:13182000-13211800	Weak transcription	Fetal Brain Female	brain
3	chr6:13182000-13212000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr6:13182000-13230000	Weak transcription	Brain Angular Gyrus	brain
5	chr6:13183000-13207000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr6:13184000-13220800	Weak transcription	Brain Germinal Matrix	brain
7	chr6:13185400-13205800	Weak transcription	Aorta	Aorta
8	chr6:13185400-13205800	Weak transcription	Pancreas	Pancrea
9	chr6:13187400-13217400	Weak transcription	Right Atrium	heart
10	chr6:13191800-13210800	Weak transcription	Fetal Heart	heart
11	chr6:13192400-13216800	Weak transcription	Fetal Intestine Small	intestine
12	chr6:13195800-13206200	Weak transcription	Brain Hippocampus Middle	brain
13	chr6:13195800-13207400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:13198800-13206800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr6:13201400-13216200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr6:13201600-13206000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:13201600-13209000	Weak transcription	Ovary	ovary
18	chr6:13201600-13215600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:13202200-13205800	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr6:13202400-13213200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:13202400-13218400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr6:13202800-13207800	Strong transcription	Brain Anterior Caudate	brain
23	chr6:13203000-13216800	Weak transcription	Adipose Nuclei	Adipose
24	chr6:13203200-13207800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:13203200-13230200	Weak transcription	Fetal Stomach	stomach
26	chr6:13203600-13217400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:13203800-13209000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:13204000-13206200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:13204000-13207200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr6:13204000-13209000	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr6:13204400-13206400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:13204600-13207000	Weak transcription	Brain Substantia Nigra	brain
33	chr6:13204600-13210200	Strong transcription	Stomach Smooth Muscle	stomach
34	chr6:13204800-13208200	Strong transcription	Lung	lung
35	chr6:13205000-13214400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr6:13205200-13208000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:13205200-13208600	Strong transcription	Left Ventricle	heart
38	chr6:13205400-13206000	Strong transcription	Primary hematopoietic stem cells	blood
39	chr6:13205400-13206400	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr6:13205400-13206400	Strong transcription	Gastric	stomach
41	chr6:13205400-13217400	Weak transcription	HSMM	muscle
42	chr6:13205600-13206400	Strong transcription	Right Ventricle	heart

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