Variant report

Variant	rs4147675
Chromosome Location	chr12:4765483-4765484
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:4757018..4762059-chr12:4764285..4767290,6	K562	blood:
2	chr12:4762857..4765662-chr12:4767685..4769794,2	K562	blood:
3	chr12:4762342..4764303-chr12:4764418..4767058,2	K562	blood:

Variant related genes	Relation type
ENSG00000111254	Chromatin interaction
ENSG00000139180	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10444481	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10774252	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10774253	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10774254	0.94[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10849109	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10849110	0.85[ASN][1000 genomes]
rs11063270	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12227238	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12298137	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1860342	0.94[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2011298	0.94[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2072355	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs2072356	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs2191156	0.82[CEU][hapmap]
rs2267544	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2267547	0.92[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2299834	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4147673	0.86[YRI][hapmap]
rs7133467	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7300882	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7301072	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7310920	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7310971	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7311845	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7312062	0.80[CEU][hapmap];0.86[CHB][hapmap];0.80[ASN][1000 genomes]
rs758532	0.83[CEU][hapmap];0.87[CHB][hapmap]
rs917565	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs917566	0.83[EUR][1000 genomes]
rs997373	0.86[CHB][hapmap];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv898619	chr12:4737715-4771456	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv898620	chr12:4745313-4771456	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1036308	chr12:4748657-4804156	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv898621	chr12:4751798-4768193	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv898622	chr12:4751798-4768619	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv898623	chr12:4751798-4771456	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv898624	chr12:4757474-4769876	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv557126	chr12:4757809-4768619	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv898625	chr12:4759380-4771682	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4147675	AKAP3	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4759000-4772600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:4759000-4799400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:4759200-4776200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:4759400-4767200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:4759600-4767000	Weak transcription	Stomach Mucosa	stomach
6	chr12:4760000-4766600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:4760000-4766600	Weak transcription	Fetal Brain Male	brain
8	chr12:4760800-4782400	Strong transcription	Primary T cells from cord blood	blood
9	chr12:4761200-4765600	Weak transcription	Colon Smooth Muscle	Colon
10	chr12:4761800-4782200	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr12:4762200-4779800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:4762200-4783600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:4762600-4768800	Weak transcription	Fetal Heart	heart
14	chr12:4762600-4773000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr12:4762600-4773400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:4762600-4779600	Strong transcription	Primary hematopoietic stem cells	blood
17	chr12:4762600-4780000	Strong transcription	Fetal Muscle Leg	muscle
18	chr12:4762600-4782800	Strong transcription	Adipose Nuclei	Adipose
19	chr12:4762800-4779800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr12:4762800-4781000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:4762800-4782000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr12:4763000-4766600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr12:4763000-4774800	Strong transcription	Skeletal Muscle Male	skeletal muscle
24	chr12:4763000-4775600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:4763000-4780400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:4763000-4782200	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr12:4763000-4782400	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr12:4763000-4782400	Strong transcription	Placenta	Placenta
29	chr12:4763000-4783000	Strong transcription	Duodenum Mucosa	Duodenum
30	chr12:4763200-4772600	Strong transcription	HSMM	muscle
31	chr12:4763200-4772600	Strong transcription	Osteobl	bone
32	chr12:4763200-4773600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:4763200-4782200	Strong transcription	Primary B cells from peripheral blood	blood
34	chr12:4763400-4766000	Strong transcription	Fetal Intestine Small	intestine
35	chr12:4763400-4771200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr12:4763400-4771200	Strong transcription	Fetal Stomach	stomach
37	chr12:4763400-4771400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:4763400-4771400	Strong transcription	Spleen	Spleen
39	chr12:4763400-4771400	Strong transcription	NHEK	skin
40	chr12:4763400-4771600	Strong transcription	Ovary	ovary
41	chr12:4763400-4771600	Strong transcription	Thymus	Thymus
42	chr12:4763400-4771800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr12:4763400-4771800	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr12:4763400-4772400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:4763400-4772600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:4763400-4772600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:4763400-4772600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:4763400-4772600	Strong transcription	HSMMtube	muscle
49	chr12:4763400-4773200	Strong transcription	Right Ventricle	heart
50	chr12:4763400-4773600	Strong transcription	HMEC	breast

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