Variant report

Variant	rs62481943
Chromosome Location	chr7:128305556-128305557
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	chr7:128304969-128305577	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:128297617..128300148-chr7:128302493..128306343,3	K562	blood:

Variant related genes	Relation type
ENSG00000271553	TF binding region
ENSG00000271529	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10954208	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10954209	0.87[EUR][1000 genomes]
rs10954210	0.88[EUR][1000 genomes]
rs11763357	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12532347	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534956	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2003954	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2013189	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2060718	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56403867	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57185253	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58709686	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58781928	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60117311	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62481882	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62481884	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62481903	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62483279	0.81[EUR][1000 genomes]
rs62483283	0.80[EUR][1000 genomes]
rs62483312	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6971091	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73723614	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs62481943	RP11-274B21.4	cis	Nerve Tibial	GTEx
rs62481943	CICP14	cis	Thyroid	GTEx
rs62481943	RP11-274B21.2	cis	Thyroid	GTEx
rs62481943	RP11-274B21.4	cis	lung	GTEx

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128249600-128308400	Weak transcription	HSMM	muscle
2	chr7:128249600-128312200	Weak transcription	Psoas Muscle	Psoas
3	chr7:128249600-128319600	Weak transcription	NHLF	lung
4	chr7:128282400-128312400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr7:128284200-128313200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr7:128284400-128313200	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:128293600-128312200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr7:128294000-128313200	Weak transcription	Brain Germinal Matrix	brain
9	chr7:128294800-128328000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:128295000-128310400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr7:128295000-128311000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:128295000-128319800	Weak transcription	Left Ventricle	heart
13	chr7:128295000-128319800	Weak transcription	Right Ventricle	heart
14	chr7:128295000-128325200	Weak transcription	Brain Hippocampus Middle	brain
15	chr7:128295400-128325400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:128298600-128329200	Weak transcription	Pancreas	Pancrea
17	chr7:128300200-128313200	Weak transcription	Right Atrium	heart
18	chr7:128301800-128310600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:128302000-128308400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:128302200-128318200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:128302400-128312000	Weak transcription	Fetal Muscle Leg	muscle
22	chr7:128302400-128319800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:128302400-128323200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:128302400-128323200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr7:128302400-128324000	Weak transcription	Aorta	Aorta
26	chr7:128302400-128337200	Weak transcription	Gastric	stomach
27	chr7:128302600-128310600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:128302600-128312800	Weak transcription	Fetal Stomach	stomach
29	chr7:128302600-128323000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr7:128302600-128327800	Weak transcription	Placenta	Placenta
31	chr7:128302800-128321800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:128303000-128312800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr7:128303600-128319400	Weak transcription	Fetal Brain Female	brain
34	chr7:128304200-128305800	Enhancers	HUVEC	blood vessel
35	chr7:128304600-128305800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:128305000-128323000	Weak transcription	NHDF-Ad	bronchial
37	chr7:128305400-128310400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:128305400-128317600	Weak transcription	Osteobl	bone

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