Variant report

Variant	rs55854844
Chromosome Location	chr7:128330275-128330276
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	NR2F2	chr7:128330043-128330436	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:128325647..128328540-chr7:128329512..128331138,2	MCF-7	breast:

Variant related genes	Relation type
IMP3P2	TF binding region
ENSG00000271344	TF binding region
ENSG00000270810	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11972335	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11972414	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11973846	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11979987	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12668292	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12672216	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1450875	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1839595	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2402932	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4731485	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56010148	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59475830	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59955357	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61031958	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62481886	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62481894	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62481898	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62481925	0.82[AMR][1000 genomes]
rs62481947	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62483299	0.80[AMR][1000 genomes]
rs62483349	0.82[AMR][1000 genomes]
rs62483350	0.84[AMR][1000 genomes]
rs6946411	0.82[AMR][1000 genomes]
rs6973650	0.80[AMR][1000 genomes]
rs73236051	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9689994	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9690750	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427806	chr7:128179989-128428182	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv966738	chr7:128325654-128339129	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs55854844	RP11-274B21.1	cis	Adipose Subcutaneous	GTEx
rs55854844	RP11-274B21.4	cis	Whole Blood	GTEx
rs55854844	RP11-274B21.2	cis	Adipose Subcutaneous	GTEx
rs55854844	RP11-274B21.4	cis	Adipose Subcutaneous	GTEx
rs55854844	RP11-274B21.4	cis	Nerve Tibial	GTEx

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128302400-128337200	Weak transcription	Gastric	stomach
2	chr7:128313400-128331200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr7:128313600-128337200	Weak transcription	Right Atrium	heart
4	chr7:128320200-128332000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:128320200-128337200	Weak transcription	NHLF	lung
6	chr7:128320400-128331000	Weak transcription	Brain Angular Gyrus	brain
7	chr7:128320400-128331000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr7:128321000-128332000	Weak transcription	Fetal Brain Male	brain
9	chr7:128322200-128333000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr7:128323400-128337200	Weak transcription	Left Ventricle	heart
11	chr7:128324200-128337200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr7:128324400-128330600	Weak transcription	Osteobl	bone
13	chr7:128324400-128337200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:128324600-128330800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:128324800-128330800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr7:128325600-128333800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:128325600-128337000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr7:128326000-128330600	Weak transcription	Brain Hippocampus Middle	brain
19	chr7:128326000-128337200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:128326800-128331200	Weak transcription	Fetal Brain Female	brain
21	chr7:128328000-128330800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr7:128328000-128331200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr7:128328000-128331600	Weak transcription	Aorta	Aorta
24	chr7:128328000-128332800	Weak transcription	Brain Anterior Caudate	brain
25	chr7:128328000-128333400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr7:128328000-128334000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:128328000-128334800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:128328000-128337000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:128328000-128337200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:128328000-128337200	Weak transcription	HSMMtube	muscle
31	chr7:128328000-128337200	Weak transcription	NH-A	brain
32	chr7:128328200-128337000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:128328800-128337200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:128329000-128337200	Weak transcription	HSMM	muscle
35	chr7:128329400-128333400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:128329400-128337200	Weak transcription	Pancreas	Pancrea
37	chr7:128329800-128331400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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