Variant report

Variant	rs12303320
Chromosome Location	chr12:4718125-4718126
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:4716709..4719641-chr12:4721067..4722851,2	K562	blood:
2	chr12:4717083..4718773-chr12:4723734..4726455,2	K562	blood:
3	chr12:4715702..4719110-chr12:4719525..4722538,3	K562	blood:
4	chr12:4712076..4715630-chr12:4717272..4720188,3	K562	blood:
5	chr12:4711350..4714063-chr12:4715790..4718372,3	K562	blood:

Variant related genes	Relation type
ENSG00000272921	Chromatin interaction
ENSG00000256748	Chromatin interaction
ENSG00000010219	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1008578	0.91[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10744653	0.85[CEU][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10744654	0.91[CEU][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10774245	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11063253	0.83[EUR][1000 genomes]
rs11063280	0.85[ASN][1000 genomes]
rs11063282	0.85[ASN][1000 genomes]
rs11063285	0.82[ASN][1000 genomes]
rs12308883	0.85[ASN][1000 genomes]
rs12310639	0.95[ASN][1000 genomes]
rs12313377	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12318966	0.84[ASN][1000 genomes]
rs12811453	0.85[ASN][1000 genomes]
rs12828416	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12829711	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs16931616	0.84[ASN][1000 genomes]
rs16931620	0.84[ASN][1000 genomes]
rs1860343	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1860344	0.94[EUR][1000 genomes]
rs1974602	0.95[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1990311	0.84[ASN][1000 genomes]
rs2041293	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2267548	0.84[ASN][1000 genomes]
rs2286576	0.82[CEU][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2299833	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2302246	0.85[ASN][1000 genomes]
rs2302248	0.85[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2884671	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35131771	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35167443	0.85[ASN][1000 genomes]
rs4147671	0.85[ASN][1000 genomes]
rs4147672	0.85[ASN][1000 genomes]
rs4147673	0.85[ASN][1000 genomes]
rs4147677	0.84[ASN][1000 genomes]
rs4147678	0.84[ASN][1000 genomes]
rs4147679	0.84[ASN][1000 genomes]
rs4147680	0.84[ASN][1000 genomes]
rs4147682	0.81[ASN][1000 genomes]
rs4147684	0.84[ASN][1000 genomes]
rs4147685	0.84[ASN][1000 genomes]
rs4766260	0.82[EUR][1000 genomes]
rs4766264	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4766267	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4766269	0.84[ASN][1000 genomes]
rs61909965	0.84[ASN][1000 genomes]
rs7136668	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs720673	0.86[EUR][1000 genomes]
rs7300543	0.85[CEU][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs730065	0.85[CEU][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7305150	0.91[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7312402	0.88[ASN][1000 genomes]
rs7958182	0.84[ASN][1000 genomes]
rs7972657	0.84[ASN][1000 genomes]
rs7972737	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7972920	0.84[ASN][1000 genomes]
rs7975484	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7977981	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs876586	0.95[ASN][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	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv898617	chr12:4715082-4768619	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12303320	DYRK4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4714400-4719400	Weak transcription	Spleen	Spleen
2	chr12:4714400-4722800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:4714400-4724800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:4714400-4726400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:4714600-4718400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr12:4714600-4718600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:4714600-4719200	Weak transcription	Aorta	Aorta
8	chr12:4714600-4719200	Weak transcription	Placenta	Placenta
9	chr12:4714600-4719800	Weak transcription	Psoas Muscle	Psoas
10	chr12:4714600-4721600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:4714600-4721800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:4714600-4721800	Weak transcription	Brain Germinal Matrix	brain
13	chr12:4714600-4721800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr12:4714600-4722200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:4714600-4725400	Weak transcription	Fetal Muscle Leg	muscle
16	chr12:4714600-4726200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr12:4714600-4726800	Weak transcription	Right Ventricle	heart
18	chr12:4714800-4718800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:4714800-4719200	Weak transcription	Fetal Thymus	thymus
20	chr12:4714800-4719400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr12:4714800-4719400	Weak transcription	Adipose Nuclei	Adipose
22	chr12:4714800-4719400	Weak transcription	Colonic Mucosa	Colon
23	chr12:4714800-4720000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:4714800-4721600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:4714800-4721600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:4714800-4721800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr12:4714800-4722200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr12:4714800-4722400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:4714800-4724400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr12:4714800-4725800	Weak transcription	Fetal Brain Male	brain
31	chr12:4714800-4726600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr12:4715000-4718200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr12:4715000-4719400	Weak transcription	HSMMtube	muscle
34	chr12:4715000-4720400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:4715000-4722200	Weak transcription	A549	lung
36	chr12:4715000-4722400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr12:4715200-4718800	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr12:4715200-4719000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:4715200-4719200	Weak transcription	Liver	Liver
40	chr12:4715200-4719200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr12:4715200-4719200	Weak transcription	GM12878-XiMat	blood
42	chr12:4715200-4719400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:4715200-4719400	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr12:4715200-4719400	Weak transcription	NH-A	brain
45	chr12:4715200-4719600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:4715200-4719600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr12:4715200-4722000	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr12:4715200-4722000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:4715200-4722200	Weak transcription	Fetal Kidney	kidney
50	chr12:4715200-4722400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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