Variant report

Variant	rs11063260
Chromosome Location	chr12:4715847-4715848
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4715702..4719110-chr12:4719525..4722538,3	K562	blood:
2	chr12:4711350..4714063-chr12:4715790..4718372,3	K562	blood:

Variant related genes	Relation type
ENSG00000010219	Chromatin interaction
ENSG00000256748	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10774250	1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11063269	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11608761	0.84[EUR][1000 genomes]
rs11608880	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11609763	0.85[EUR][1000 genomes]
rs11610695	0.85[EUR][1000 genomes]
rs11612861	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614502	0.84[EUR][1000 genomes]
rs11615279	0.85[EUR][1000 genomes]
rs12424286	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12580786	0.95[CEU][hapmap]
rs16931572	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs17774040	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs17774142	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2072358	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2109097	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2267546	0.95[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs2270134	0.85[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs2299835	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3741925	1.00[CEU][hapmap];0.92[YRI][hapmap]
rs3741926	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs4147674	0.84[CHB][hapmap];0.87[JPT][hapmap]
rs4766261	0.80[CHB][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4766263	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4766266	0.90[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs55798490	0.93[ASN][1000 genomes]
rs56118230	0.81[ASN][1000 genomes]
rs66871237	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67338449	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7134765	0.83[CEU][hapmap];0.85[EUR][1000 genomes]
rs714621	0.90[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs887307	0.93[ASN][1000 genomes]
rs979877	0.95[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs997868	0.95[CEU][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.85[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	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
rs11063260	AKAP3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4714400-4716200	Weak transcription	Stomach Mucosa	stomach
2	chr12:4714400-4716400	Weak transcription	Lung	lung
3	chr12:4714400-4719400	Weak transcription	Spleen	Spleen
4	chr12:4714400-4722800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:4714400-4724800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:4714400-4726400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:4714600-4716000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr12:4714600-4716200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:4714600-4716200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr12:4714600-4718400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr12:4714600-4718600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:4714600-4719200	Weak transcription	Aorta	Aorta
13	chr12:4714600-4719200	Weak transcription	Placenta	Placenta
14	chr12:4714600-4719800	Weak transcription	Psoas Muscle	Psoas
15	chr12:4714600-4721600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:4714600-4721800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:4714600-4721800	Weak transcription	Brain Germinal Matrix	brain
18	chr12:4714600-4721800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr12:4714600-4722200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:4714600-4725400	Weak transcription	Fetal Muscle Leg	muscle
21	chr12:4714600-4726200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr12:4714600-4726800	Weak transcription	Right Ventricle	heart
23	chr12:4714800-4716200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:4714800-4716200	Enhancers	Brain Anterior Caudate	brain
25	chr12:4714800-4716400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr12:4714800-4716400	Enhancers	Brain Substantia Nigra	brain
27	chr12:4714800-4716400	Enhancers	Fetal Intestine Large	intestine
28	chr12:4714800-4716600	Enhancers	Fetal Intestine Small	intestine
29	chr12:4714800-4716600	Weak transcription	Right Atrium	heart
30	chr12:4714800-4718800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr12:4714800-4719200	Weak transcription	Fetal Thymus	thymus
32	chr12:4714800-4719400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:4714800-4719400	Weak transcription	Adipose Nuclei	Adipose
34	chr12:4714800-4719400	Weak transcription	Colonic Mucosa	Colon
35	chr12:4714800-4720000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:4714800-4721600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:4714800-4721600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:4714800-4721800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr12:4714800-4722200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr12:4714800-4722400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:4714800-4724400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr12:4714800-4725800	Weak transcription	Fetal Brain Male	brain
43	chr12:4714800-4726600	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr12:4715000-4716000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr12:4715000-4716200	Enhancers	Brain Hippocampus Middle	brain
46	chr12:4715000-4716600	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr12:4715000-4718200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr12:4715000-4719400	Weak transcription	HSMMtube	muscle
49	chr12:4715000-4720400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr12:4715000-4722200	Weak transcription	A549	lung

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