Variant report

Variant	rs525425
Chromosome Location	chr12:121195625-121195626
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	chr12:121191123..121193615-chr12:121194473..121197241,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10774572	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10849791	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10849807	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11065264	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11065282	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11065283	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11065284	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11065292	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11065293	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11065300	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11065311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11065324	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1151849	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1151862	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11608262	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11611087	0.92[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1177585	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12579868	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12580949	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap]
rs12809299	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12822123	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12824150	0.86[CEU][hapmap]
rs12825746	0.80[ASN][1000 genomes]
rs13746	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1467283	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1542859	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs1696357	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2015462	0.97[ASN][1000 genomes]
rs2047568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2062507	0.85[CEU][hapmap]
rs2393717	0.96[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2893876	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3213566	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3213567	0.96[ASN][1000 genomes]
rs3213570	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3213572	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34076777	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35706672	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3809313	0.84[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap]
rs3842985	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3861797	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3883901	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3897746	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3901854	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4454799	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs471688	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4766979	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4767935	0.85[CEU][hapmap]
rs4767937	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs494632	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs508595	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs520753	0.92[CHB][hapmap]
rs531782	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs534415	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs580240	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58291418	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs608394	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs610694	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs618482	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs624216	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs625228	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs661647	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs668622	0.98[ASN][1000 genomes]
rs7137504	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7305849	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs869781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs909053	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9431	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs989986	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs989987	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1041153	chr12:121171986-121208826	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv560438	chr12:121194565-121352206	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs525425	UNQ1887	Cis_1M	lymphoblastoid	RTeQTL
rs525425	ACADS	cis	Thyroid	GTEx

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121168600-121196400	Weak transcription	Fetal Brain Female	brain
2	chr12:121177800-121197800	Weak transcription	Gastric	stomach
3	chr12:121179800-121197400	Weak transcription	Spleen	Spleen
4	chr12:121180200-121197400	Weak transcription	Pancreas	Pancrea
5	chr12:121183200-121197600	Weak transcription	Esophagus	oesophagus
6	chr12:121186400-121198400	Weak transcription	Right Ventricle	heart
7	chr12:121189600-121197000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:121190400-121197800	Weak transcription	Right Atrium	heart
9	chr12:121193000-121198400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr12:121193400-121197400	Weak transcription	Brain Hippocampus Middle	brain
11	chr12:121193600-121197000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr12:121193800-121197600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:121193800-121198200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr12:121194000-121196800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr12:121194000-121197000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr12:121194000-121197600	Weak transcription	GM12878-XiMat	blood
17	chr12:121194000-121200800	Weak transcription	HepG2	liver
18	chr12:121194200-121197200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:121194200-121197600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:121194200-121197600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:121194200-121197800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:121194200-121197800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:121194200-121202200	Weak transcription	K562	blood
24	chr12:121194400-121195800	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr12:121194400-121196800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:121194400-121197000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:121194600-121197000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr12:121194600-121197000	Weak transcription	Placenta	Placenta
29	chr12:121194600-121197400	Weak transcription	Primary T cells from cord blood	blood
30	chr12:121194800-121196600	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr12:121194800-121196800	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr12:121194800-121196800	Weak transcription	Fetal Intestine Large	intestine
33	chr12:121194800-121197400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:121194800-121197400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr12:121194800-121197600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr12:121194800-121198200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr12:121194800-121198800	Weak transcription	A549	lung
38	chr12:121195000-121197600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr12:121195000-121197800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr12:121195000-121197800	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr12:121195000-121201200	Weak transcription	Small Intestine	intestine
42	chr12:121195200-121196400	Enhancers	Psoas Muscle	Psoas
43	chr12:121195200-121197000	Weak transcription	Fetal Intestine Small	intestine
44	chr12:121195200-121197600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr12:121195200-121197800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:121195200-121197800	Weak transcription	Duodenum Mucosa	Duodenum
47	chr12:121195200-121197800	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr12:121195200-121200000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr12:121195400-121197400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr12:121195400-121197800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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