Variant report

Variant	rs7088127
Chromosome Location	chr10:27547808-27547809
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr10:27547760-27548425	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr10:27547487-27548278	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTBP2	chr10:27547547-27548537	H1-hESC	embryonic stem cell:	n/a	n/a
4	YY1	chr10:27547737-27548177	H1-hESC	embryonic stem cell:	n/a	chr10:27547856-27547865
5	MAX	chr10:27547668-27548554	H1-hESC	embryonic stem cell:	n/a	n/a
6	SIN3A	chr10:27547741-27548621	H1-hESC	embryonic stem cell:	n/a	chr10:27547975-27547986
7	TCF3	chr10:27547610-27548031	GM12878	blood:	n/a	chr10:27547689-27547703 chr10:27547691-27547701 chr10:27547686-27547699 chr10:27547950-27547964
8	E2F6	chr10:27547771-27548458	H1-hESC	embryonic stem cell:	n/a	n/a
9	E2F6	chr10:27547678-27548605	H1-hESC	embryonic stem cell:	n/a	chr10:27547699-27547708

Variant related genes	Relation type
ARMC4P1	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10430598	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10430599	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10829219	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10829220	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10829221	0.84[ASN][1000 genomes]
rs11015626	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11015627	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1144510	0.87[ASN][1000 genomes]
rs1144511	0.88[ASN][1000 genomes]
rs1148167	0.87[ASN][1000 genomes]
rs1328602	0.83[ASN][1000 genomes]
rs4749241	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4749242	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7095530	0.98[ASN][1000 genomes]
rs7895094	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7896532	0.84[ASN][1000 genomes]
rs7907444	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[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	esv2422253	chr10:27431366-27575370	Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3337781	chr10:27472216-27666703	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv8614	chr10:27504487-27828406	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7088127	ARMC4P1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27546600-27548600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
2	chr10:27546800-27549000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr10:27547200-27548000	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr10:27547400-27548000	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr10:27547400-27548000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr10:27547400-27548000	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
7	chr10:27547400-27548000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
8	chr10:27547400-27548200	Flanking Bivalent TSS/Enh	Thymus	Thymus
9	chr10:27547400-27548200	Bivalent/Poised TSS	A549	lung
10	chr10:27547400-27548400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
11	chr10:27547400-27548400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
12	chr10:27547400-27548400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
13	chr10:27547400-27548400	Bivalent/Poised TSS	Esophagus	oesophagus
14	chr10:27547400-27548400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
15	chr10:27547400-27548400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
16	chr10:27547400-27548400	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr10:27547400-27548400	Bivalent/Poised TSS	GM12878-XiMat	blood
18	chr10:27547400-27548600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr10:27547400-27548600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr10:27547400-27548600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr10:27547400-27548600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr10:27547400-27548600	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
23	chr10:27547400-27548600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
24	chr10:27547400-27548600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
25	chr10:27547400-27548600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
26	chr10:27547400-27548600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
27	chr10:27547400-27548600	Active TSS	Brain Anterior Caudate	brain
28	chr10:27547400-27548600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
29	chr10:27547400-27548600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
30	chr10:27547400-27548600	Active TSS	Left Ventricle	heart
31	chr10:27547400-27548600	Active TSS	Right Atrium	heart
32	chr10:27547400-27548600	Active TSS	Right Ventricle	heart
33	chr10:27547400-27548600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
34	chr10:27547400-27548600	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
35	chr10:27547400-27548600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
36	chr10:27547400-27548600	Bivalent/Poised TSS	Osteobl	bone
37	chr10:27547400-27548800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
38	chr10:27547400-27548800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr10:27547400-27548800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr10:27547400-27548800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr10:27547400-27548800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
42	chr10:27547400-27548800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
43	chr10:27547400-27548800	Bivalent/Poised TSS	Fetal Brain Female	brain
44	chr10:27547400-27549000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
45	chr10:27547400-27549000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
46	chr10:27547400-27549000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
47	chr10:27547600-27548000	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr10:27547600-27548000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr10:27547600-27548000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr10:27547600-27548000	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--

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