Variant report

Variant	rs62481896
Chromosome Location	chr7:128276432-128276433
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 23 )

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

rs_ID	r²[population]
rs1013514	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10954206	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11769769	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11982488	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2402923	0.81[ASN][1000 genomes]
rs2956682	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4731481	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55817807	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55928948	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59287454	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60382581	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61437980	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62481928	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62483311	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62483370	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6467200	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6955870	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6965333	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7795141	0.84[ASN][1000 genomes]
rs7800335	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9690564	0.81[ASN][1000 genomes]
rs9768325	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	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	nsv970938	chr7:128256300-128300276	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv971047	chr7:128266439-128278778	Weak transcription Strong transcription	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:23)

SNP	Gene	Cis/trans	Tissue	Source
rs62481896	RP11-274B21.3	cis	Thyroid	GTEx
rs62481896	CICP14	cis	Skin Sun Exposed Lower leg	GTEx
rs62481896	RP11-274B21.2	cis	Skin Sun Exposed Lower leg	GTEx
rs62481896	RP11-274B21.2	cis	Stomach	GTEx
rs62481896	RP11-274B21.4	cis	lung	GTEx
rs62481896	RP11-274B21.4	cis	Muscle Skeletal	GTEx
rs62481896	RP11-274B21.1	cis	lung	GTEx
rs62481896	RP11-274B21.4	cis	Skin Sun Exposed Lower leg	GTEx
rs62481896	RP11-274B21.2	cis	Thyroid	GTEx
rs62481896	RP11-274B21.4	cis	Thyroid	GTEx
rs62481896	RP11-274B21.4	cis	Esophagus Mucosa	GTEx
rs62481896	RP11-274B21.2	cis	Adipose Subcutaneous	GTEx
rs62481896	RP11-274B21.1	cis	Skin Sun Exposed Lower leg	GTEx
rs62481896	CICP14	cis	Thyroid	GTEx
rs62481896	RP11-274B21.4	cis	Adipose Subcutaneous	GTEx
rs62481896	RP11-274B21.3	cis	Nerve Tibial	GTEx
rs62481896	RP11-274B21.2	cis	Muscle Skeletal	GTEx
rs62481896	RP11-274B21.3	cis	Muscle Skeletal	GTEx
rs62481896	RP11-274B21.4	cis	Stomach	GTEx
rs62481896	RP11-274B21.4	cis	Nerve Tibial	GTEx
rs62481896	RP11-274B21.2	cis	lung	GTEx
rs62481896	RP11-274B21.1	cis	Nerve Tibial	GTEx
rs62481896	RP11-274B21.2	cis	Nerve Tibial	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128237800-128290400	Weak transcription	HepG2	liver
2	chr7:128239200-128287200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:128239200-128296400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:128242600-128292800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:128246600-128284800	Weak transcription	Stomach Mucosa	stomach
6	chr7:128249600-128278600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr7:128249600-128283200	Weak transcription	Hela-S3	cervix
8	chr7:128249600-128285800	Weak transcription	Fetal Heart	heart
9	chr7:128249600-128286800	Weak transcription	HSMMtube	muscle
10	chr7:128249600-128289000	Weak transcription	NHEK	skin
11	chr7:128249600-128293400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:128249600-128295200	Weak transcription	NH-A	brain
13	chr7:128249600-128297600	Weak transcription	HUVEC	blood vessel
14	chr7:128249600-128308400	Weak transcription	HSMM	muscle
15	chr7:128249600-128312200	Weak transcription	Psoas Muscle	Psoas
16	chr7:128249600-128319600	Weak transcription	NHLF	lung
17	chr7:128252200-128287600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:128254800-128276600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:128256800-128288600	Weak transcription	Osteobl	bone
20	chr7:128258600-128287400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr7:128260000-128296400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr7:128260200-128278600	Weak transcription	Dnd41	blood
23	chr7:128260400-128278600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr7:128260400-128300600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr7:128261200-128277400	Weak transcription	Right Ventricle	heart
26	chr7:128261600-128278600	Weak transcription	Aorta	Aorta
27	chr7:128262200-128293200	Weak transcription	Brain Germinal Matrix	brain
28	chr7:128262600-128283800	Weak transcription	Small Intestine	intestine
29	chr7:128262800-128278800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr7:128263000-128286600	Weak transcription	Fetal Brain Male	brain
31	chr7:128263400-128278600	Weak transcription	Gastric	stomach
32	chr7:128264800-128276600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr7:128265800-128289000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr7:128266400-128278600	Weak transcription	Pancreas	Pancrea
35	chr7:128266400-128290400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr7:128267200-128287400	Strong transcription	Fetal Muscle Leg	muscle
37	chr7:128268000-128278800	Weak transcription	Primary T cells from cord blood	blood
38	chr7:128269800-128279400	Weak transcription	Primary B cells from cord blood	blood
39	chr7:128270200-128278600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr7:128272200-128300000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:128272400-128277400	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr7:128272400-128278400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr7:128272400-128278600	Weak transcription	Colon Smooth Muscle	Colon
44	chr7:128272400-128278600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr7:128272400-128278800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr7:128272400-128279200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr7:128272400-128279400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr7:128272400-128285800	Weak transcription	Fetal Kidney	kidney
49	chr7:128272400-128290400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr7:128272400-128290400	Weak transcription	K562	blood

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