Variant report

Variant	rs12579868
Chromosome Location	chr12:121207147-121207148
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121123033..121125000-chr12:121205934..121208435,2	K562	blood:

Variant related genes	Relation type
ENSG00000110917	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10849791	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11065264	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11065282	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11065283	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11065284	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11065292	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11065293	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11065300	0.80[AMR][1000 genomes]
rs11608262	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11611087	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12580949	0.81[AMR][1000 genomes]
rs12809299	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12825746	0.80[ASN][1000 genomes]
rs13746	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1467283	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2015462	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2047568	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2393717	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2893876	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3213566	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3213567	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3213570	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3213572	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34076777	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35706672	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3842985	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3861797	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3883901	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3901854	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4766979	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4766980	0.80[AMR][1000 genomes]
rs4767937	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs494632	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs508595	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs525425	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs534415	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs580240	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58291418	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs608394	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs618482	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs668622	0.95[ASN][1000 genomes]
rs7137504	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7305849	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs909053	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9431	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs989986	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs989987	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv976761	chr12:121202272-121210985	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12579868	UNQ1887	Cis_1M	lymphoblastoid	RTeQTL
rs12579868	ACADS	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121195600-121207200	Strong transcription	Brain Germinal Matrix	brain
2	chr12:121196800-121212800	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr12:121197000-121207200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:121197200-121210000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:121197400-121209800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:121197400-121212600	Strong transcription	Thymus	Thymus
7	chr12:121197400-121220000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr12:121197600-121207200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:121197600-121210400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:121197800-121209000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:121197800-121212400	Strong transcription	Liver	Liver
12	chr12:121197800-121220400	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr12:121198000-121207200	Strong transcription	H9 Cell Line	embryonic stem cell
14	chr12:121198000-121207200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:121198000-121212000	Strong transcription	Adipose Nuclei	Adipose
16	chr12:121198200-121211400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr12:121198400-121207200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:121198400-121209800	Strong transcription	Dnd41	blood
19	chr12:121198400-121212200	Strong transcription	Primary B cells from cord blood	blood
20	chr12:121198400-121220800	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr12:121198600-121209200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr12:121198800-121209000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:121199000-121207200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr12:121199000-121211600	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr12:121199200-121209600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:121199400-121207400	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr12:121199400-121207600	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr12:121199600-121207200	Strong transcription	HSMM	muscle
29	chr12:121199600-121207400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr12:121199800-121207200	Strong transcription	Brain Anterior Caudate	brain
31	chr12:121199800-121211400	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr12:121199800-121211800	Weak transcription	Right Atrium	heart
33	chr12:121200200-121207200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:121200200-121213000	Strong transcription	Fetal Stomach	stomach
35	chr12:121200400-121207200	Strong transcription	Stomach Smooth Muscle	stomach
36	chr12:121200400-121209800	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr12:121200400-121210000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:121200600-121210000	Strong transcription	Esophagus	oesophagus
39	chr12:121200600-121211200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr12:121200600-121222600	Strong transcription	Fetal Muscle Trunk	muscle
41	chr12:121200800-121207200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:121200800-121207200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:121200800-121207200	Strong transcription	HepG2	liver
44	chr12:121201000-121207200	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr12:121201000-121207200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:121201000-121207400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr12:121201000-121207400	Strong transcription	Osteobl	bone
48	chr12:121201000-121211800	Weak transcription	Fetal Heart	heart
49	chr12:121201000-121212000	Strong transcription	Fetal Muscle Leg	muscle
50	chr12:121201000-121212600	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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