Variant report

Variant	rs13226592
Chromosome Location	chr7:128168099-128168100
allele	A/G
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	POLR2A	chr7:128167839-128168218	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000242588	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10223975	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10227608	0.81[EUR][1000 genomes]
rs10231136	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10250369	0.80[EUR][1000 genomes]
rs10259359	0.83[AFR][1000 genomes]
rs10269844	0.83[EUR][1000 genomes]
rs10272840	0.95[ASN][1000 genomes]
rs11766319	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11767993	0.83[EUR][1000 genomes]
rs11770604	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11771884	0.85[EUR][1000 genomes]
rs11772734	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12530672	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12532513	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12537208	0.80[EUR][1000 genomes]
rs12540658	0.95[ASN][1000 genomes]
rs13224451	0.95[AFR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13224784	0.97[AFR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13233642	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13246302	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs13247746	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28496126	0.81[EUR][1000 genomes]
rs28521260	0.81[EUR][1000 genomes]
rs34125589	0.84[EUR][1000 genomes]
rs4338038	0.95[AFR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55953818	0.81[EUR][1000 genomes]
rs57049631	0.83[AFR][1000 genomes]
rs57890423	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60654313	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6467181	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6467184	0.81[EUR][1000 genomes]
rs6958343	0.83[EUR][1000 genomes]
rs6963982	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs6969343	0.83[EUR][1000 genomes]
rs71546775	0.87[EUR][1000 genomes]
rs71546786	0.81[EUR][1000 genomes]
rs7777625	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7786772	0.83[EUR][1000 genomes]
rs7790839	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7798172	0.81[EUR][1000 genomes]
rs7798776	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7801678	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9690225	0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794896	chr7:128142170-128170380	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs13226592	RP11-274B21.10	cis	Thyroid	GTEx
rs13226592	CICP14	cis	Nerve Tibial	GTEx
rs13226592	CICP14	cis	Thyroid	GTEx
rs13226592	CICP14	cis	Muscle Skeletal	GTEx
rs13226592	RP11-274B21.10	cis	Esophagus Muscularis	GTEx
rs13226592	METTL2B	cis	Skin Sun Exposed Lower leg	GTEx
rs13226592	RP11-274B21.10	cis	Esophagus Mucosa	GTEx
rs13226592	RP11-274B21.10	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128163600-128169600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:128163600-128169800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:128163600-128169800	Weak transcription	Psoas Muscle	Psoas
4	chr7:128163600-128170400	Weak transcription	Lung	lung
5	chr7:128163800-128169200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr7:128163800-128169600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr7:128163800-128169600	Weak transcription	Fetal Muscle Leg	muscle
8	chr7:128163800-128169800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:128163800-128169800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:128163800-128169800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:128163800-128169800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr7:128163800-128169800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr7:128163800-128169800	Weak transcription	Brain Anterior Caudate	brain
14	chr7:128163800-128169800	Weak transcription	Colon Smooth Muscle	Colon
15	chr7:128163800-128169800	Weak transcription	Fetal Stomach	stomach
16	chr7:128163800-128169800	Weak transcription	Left Ventricle	heart
17	chr7:128163800-128169800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr7:128163800-128169800	Weak transcription	Small Intestine	intestine
19	chr7:128163800-128169800	Weak transcription	Dnd41	blood
20	chr7:128163800-128169800	Weak transcription	GM12878-XiMat	blood
21	chr7:128163800-128170000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:128163800-128170000	Weak transcription	Brain Substantia Nigra	brain
23	chr7:128163800-128170000	Weak transcription	Stomach Mucosa	stomach
24	chr7:128163800-128170000	Weak transcription	NH-A	brain
25	chr7:128163800-128170200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr7:128163800-128170200	Weak transcription	Fetal Thymus	thymus
27	chr7:128164000-128169200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:128164000-128169800	Weak transcription	Adipose Nuclei	Adipose
29	chr7:128164000-128169800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr7:128164000-128170200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr7:128164200-128169200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:128164200-128169800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr7:128164200-128169800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr7:128164200-128169800	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr7:128164400-128169600	Weak transcription	Brain Hippocampus Middle	brain
36	chr7:128164400-128169800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:128164400-128169800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr7:128164400-128169800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr7:128164400-128169800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:128164400-128169800	Weak transcription	Pancreas	Pancrea
41	chr7:128164400-128169800	Weak transcription	K562	blood
42	chr7:128164400-128170000	Weak transcription	Fetal Lung	lung
43	chr7:128164400-128170000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr7:128164400-128170000	Weak transcription	Hela-S3	cervix
45	chr7:128164400-128170200	Weak transcription	Colonic Mucosa	Colon
46	chr7:128164400-128170200	Weak transcription	Fetal Intestine Large	intestine
47	chr7:128164400-128170200	Weak transcription	Fetal Intestine Small	intestine
48	chr7:128164400-128170200	Weak transcription	Fetal Muscle Trunk	muscle
49	chr7:128164400-128170400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr7:128164600-128169600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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