Variant report

Variant	rs4134888
Chromosome Location	chr7:99714050-99714051
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	chr7:99713684..99715444-chr7:99715611..99717222,2	K562	blood:

Variant related genes	Relation type
ENSG00000106290	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1050542	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1141057	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13309	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1534309	0.81[ASN][1000 genomes]
rs2272338	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2293481	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35058708	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3807479	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4134917	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4134923	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4729567	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4729568	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4729571	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4729572	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4729577	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62485010	0.81[ASN][1000 genomes]
rs6960432	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs941290	0.81[ASN][1000 genomes]
rs999886	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829865	chr7:99430678-99755141	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
2	esv1830649	chr7:99430678-99755141	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
3	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases
4	nsv469687	chr7:99572543-99755141	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
5	nsv482601	chr7:99572543-99755141	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
6	nsv607931	chr7:99664817-99796146	Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1097 gene(s)	inside rSNPs	diseases
7	esv1798486	chr7:99689883-99930879	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases
8	esv1833059	chr7:99689883-99930879	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs4134888	AP4M1	cis	Esophagus Muscularis	GTEx
rs4134888	TAF6	Cis_1M	lymphoblastoid	RTeQTL
rs4134888	AP4M1	cis	Stomach	GTEx
rs4134888	TAF6	cis	Thyroid	GTEx
rs4134888	AP4M1	Cis_1M	lymphoblastoid	RTeQTL
rs4134888	AP4M1	cis	Adipose Subcutaneous	GTEx
rs4134888	AP4M1	cis	Artery Tibial	GTEx
rs4134888	AP4M1	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99700200-99716200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:99700200-99716400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:99700400-99715800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:99700400-99716000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:99700400-99716200	Weak transcription	Psoas Muscle	Psoas
6	chr7:99700400-99716200	Weak transcription	Small Intestine	intestine
7	chr7:99700600-99714600	Strong transcription	Fetal Intestine Small	intestine
8	chr7:99700600-99715200	Strong transcription	Fetal Stomach	stomach
9	chr7:99700600-99716200	Weak transcription	Fetal Brain Male	brain
10	chr7:99700800-99714400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:99701000-99714600	Strong transcription	Fetal Intestine Large	intestine
12	chr7:99701200-99714600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:99701400-99714600	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr7:99701400-99715400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:99701600-99714600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:99706200-99714800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:99706200-99715600	Strong transcription	Fetal Muscle Trunk	muscle
18	chr7:99707200-99716000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr7:99708000-99716000	Weak transcription	HMEC	breast
20	chr7:99708000-99716200	Weak transcription	HSMM	muscle
21	chr7:99708000-99716200	Weak transcription	NH-A	brain
22	chr7:99709000-99716200	Weak transcription	HSMMtube	muscle
23	chr7:99709400-99714800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:99709400-99715800	Weak transcription	GM12878-XiMat	blood
25	chr7:99709400-99716000	Weak transcription	HUVEC	blood vessel
26	chr7:99709600-99715800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr7:99709600-99716000	Weak transcription	Primary B cells from cord blood	blood
28	chr7:99709600-99716000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr7:99709600-99716000	Weak transcription	Hela-S3	cervix
30	chr7:99709600-99716000	Weak transcription	K562	blood
31	chr7:99709600-99716200	Weak transcription	Fetal Kidney	kidney
32	chr7:99709600-99716200	Weak transcription	NHDF-Ad	bronchial
33	chr7:99709800-99716200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr7:99710000-99716000	Weak transcription	Left Ventricle	heart
35	chr7:99710000-99716200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr7:99710600-99716200	Weak transcription	NHEK	skin
37	chr7:99711200-99716200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:99711400-99715800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr7:99711400-99716000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr7:99711400-99716000	Weak transcription	Pancreas	Pancrea
41	chr7:99711400-99716200	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr7:99711400-99716200	Weak transcription	Stomach Mucosa	stomach
43	chr7:99711600-99716000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr7:99711600-99716000	Weak transcription	Brain Angular Gyrus	brain
45	chr7:99711600-99716000	Weak transcription	A549	lung
46	chr7:99711600-99716400	Weak transcription	Aorta	Aorta
47	chr7:99711800-99715800	Weak transcription	Primary B cells from peripheral blood	blood
48	chr7:99711800-99715800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr7:99711800-99715800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr7:99711800-99716000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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