Variant report

Variant	rs7305849
Chromosome Location	chr12:121217765-121217766
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121211334..121215369-chr12:121217344..121221098,3	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10849791	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11065264	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11065282	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11065283	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11065284	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11065292	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11065293	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11608262	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11611087	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12579868	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12809299	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13746	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1467283	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2015462	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2047568	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2393717	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2893876	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3213566	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3213567	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3213570	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3213572	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34076777	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35706672	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3842985	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3861797	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3883901	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3901854	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4766979	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4767937	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs494632	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs508595	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs525425	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs534415	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs580240	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58291418	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs608394	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs618482	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs668622	0.94[ASN][1000 genomes]
rs7137504	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs909053	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9431	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs989986	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs989987	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7305849	ACADS	cis	Thyroid	GTEx
rs7305849	SPPL3	cis	Nerve Tibial	GTEx
rs7305849	UNQ1887	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121197400-121220000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:121197800-121220400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr12:121198400-121220800	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr12:121200600-121222600	Strong transcription	Fetal Muscle Trunk	muscle
5	chr12:121204400-121220200	Weak transcription	NHDF-Ad	bronchial
6	chr12:121205200-121221000	Weak transcription	Stomach Mucosa	stomach
7	chr12:121206000-121219400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr12:121206200-121238600	Weak transcription	Small Intestine	intestine
9	chr12:121206600-121219800	Weak transcription	Fetal Brain Male	brain
10	chr12:121206600-121220400	Weak transcription	NH-A	brain
11	chr12:121206600-121220600	Weak transcription	NHLF	lung
12	chr12:121206800-121218600	Weak transcription	A549	lung
13	chr12:121206800-121218800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr12:121206800-121219400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:121206800-121219400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:121206800-121220000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr12:121206800-121220600	Weak transcription	Hela-S3	cervix
18	chr12:121207000-121218600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:121207000-121220000	Weak transcription	K562	blood
20	chr12:121207000-121220200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr12:121207000-121223800	Weak transcription	Pancreas	Pancrea
22	chr12:121207200-121218200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:121207200-121218200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr12:121207200-121218800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr12:121207200-121219200	Weak transcription	Brain Germinal Matrix	brain
26	chr12:121207200-121219600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr12:121207200-121220400	Weak transcription	Colon Smooth Muscle	Colon
28	chr12:121207200-121220400	Weak transcription	HMEC	breast
29	chr12:121207200-121220400	Weak transcription	NHEK	skin
30	chr12:121207200-121221800	Weak transcription	Colonic Mucosa	Colon
31	chr12:121207200-121225000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr12:121207200-121226200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr12:121207200-121233000	Weak transcription	HSMMtube	muscle
34	chr12:121207400-121218800	Weak transcription	Osteobl	bone
35	chr12:121207400-121220800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr12:121209200-121224200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr12:121209400-121218600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:121209400-121236800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr12:121209600-121220400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr12:121209600-121220600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr12:121209800-121219400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:121209800-121219600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr12:121209800-121223400	Strong transcription	Fetal Thymus	thymus
44	chr12:121210400-121220600	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr12:121211200-121218000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:121211200-121219600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr12:121211400-121219400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr12:121211400-121260800	Weak transcription	Gastric	stomach
49	chr12:121211600-121219400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr12:121211600-121219400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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