Variant report

Variant	rs6460269
Chromosome Location	chr7:65515964-65515965
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65513896..65516806-chr7:65520299..65523244,2	K562	blood:

Variant related genes	Relation type
ENSG00000252997	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs313829	0.87[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs365896	0.84[YRI][hapmap]
rs6946143	0.82[YRI][hapmap]
rs6958484	0.81[YRI][hapmap]
rs6961717	0.82[YRI][hapmap]
rs6963646	0.82[YRI][hapmap]
rs7801282	0.82[YRI][hapmap]
rs7811214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs875971	0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv888325	chr7:65474919-65575893	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1021186	chr7:65492601-65663438	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs6460269	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs6460269	RP4-756H11.3	cis	Muscle Skeletal	GTEx
rs6460269	RP4-756H11.3	cis	Artery Tibial	GTEx
rs6460269	RP11-479O9.2	cis	Thyroid	GTEx
rs6460269	RP4-756H11.3	cis	Thyroid	GTEx

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65509800-65517800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:65514600-65516600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:65514600-65516600	Enhancers	Fetal Intestine Small	intestine
4	chr7:65514600-65517000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:65514600-65517200	Enhancers	Fetal Intestine Large	intestine
6	chr7:65515200-65516400	Enhancers	Fetal Lung	lung
7	chr7:65515200-65516600	Enhancers	Fetal Heart	heart
8	chr7:65515200-65516600	Enhancers	NHDF-Ad	bronchial
9	chr7:65515400-65516000	Enhancers	Placenta	Placenta
10	chr7:65515400-65516200	Enhancers	Fetal Brain Male	brain
11	chr7:65515400-65516400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:65515400-65516400	Enhancers	NHLF	lung
13	chr7:65515400-65516600	Flanking Active TSS	HepG2	liver
14	chr7:65515400-65516600	Enhancers	Osteobl	bone
15	chr7:65515400-65516800	Enhancers	Hela-S3	cervix
16	chr7:65515600-65516000	Enhancers	Spleen	Spleen
17	chr7:65515600-65516000	Enhancers	HSMM	muscle
18	chr7:65515600-65516200	Enhancers	Adipose Nuclei	Adipose
19	chr7:65515600-65516200	Enhancers	Duodenum Mucosa	Duodenum
20	chr7:65515600-65516200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr7:65515600-65516200	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr7:65515600-65516200	Enhancers	HMEC	breast
23	chr7:65515600-65516400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:65515600-65516400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:65515600-65516400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:65515600-65516400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:65515600-65516400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr7:65515600-65516400	Enhancers	Fetal Stomach	stomach
29	chr7:65515600-65516400	Enhancers	Gastric	stomach
30	chr7:65515600-65516400	Enhancers	Ovary	ovary
31	chr7:65515600-65516400	Enhancers	Right Ventricle	heart
32	chr7:65515600-65517800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr7:65515800-65516000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr7:65515800-65516000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:65515800-65516000	Flanking Active TSS	A549	lung
36	chr7:65515800-65516200	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr7:65515800-65516200	Enhancers	Fetal Brain Female	brain
38	chr7:65515800-65516200	Enhancers	Stomach Mucosa	stomach
39	chr7:65515800-65516200	Enhancers	HSMMtube	muscle
40	chr7:65515800-65516400	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr7:65515800-65516400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:65515800-65516400	Enhancers	Brain Germinal Matrix	brain
43	chr7:65515800-65516400	Enhancers	Fetal Muscle Leg	muscle
44	chr7:65515800-65516400	Enhancers	Left Ventricle	heart
45	chr7:65515800-65516400	Enhancers	NH-A	brain
46	chr7:65515800-65516400	Enhancers	NHEK	skin
47	chr7:65515800-65516600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr7:65515800-65516800	Enhancers	Pancreas	Pancrea
49	chr7:65515800-65517200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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