Variant report

Variant	rs7801980
Chromosome Location	chr7:84542622-84542623
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:84538449..84540115-chr7:84542353..84545055,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12112932	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1534573	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17159549	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17159573	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2190209	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2286188	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2293575	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2301939	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2372506	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57189679	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58363308	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60041128	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60911534	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61320605	1.00[EUR][1000 genomes]
rs6945304	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6961296	1.00[EUR][1000 genomes]
rs6968373	1.00[EUR][1000 genomes]
rs7794387	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7804530	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7811798	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9640953	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9642190	1.00[EUR][1000 genomes]
rs9642194	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs987014	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

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	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv949446	chr7:84003501-84763823	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv34238	chr7:84279023-84591966	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2422324	chr7:84530290-84944913	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84537800-84543000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:84538800-84542800	Weak transcription	NH-A	brain
3	chr7:84540400-84543000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr7:84540400-84544000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr7:84540600-84543400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr7:84540600-84544000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr7:84541600-84543000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr7:84541800-84544000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr7:84541800-84544000	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr7:84541800-84544200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:84542000-84543200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr7:84542400-84542800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr7:84542400-84542800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:84542400-84542800	Enhancers	H9 Cell Line	embryonic stem cell
15	chr7:84542400-84542800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:84542400-84542800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:84542400-84542800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:84542400-84542800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:84542400-84542800	Enhancers	Brain Substantia Nigra	brain
20	chr7:84542400-84542800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr7:84542400-84543000	Active TSS	Adipose Nuclei	Adipose
22	chr7:84542400-84543000	Flanking Active TSS	NHDF-Ad	bronchial
23	chr7:84542400-84543200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:84542400-84543200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:84542400-84543200	Enhancers	NHLF	lung
26	chr7:84542600-84542800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr7:84542600-84542800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr7:84542600-84542800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:84542600-84542800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:84542600-84542800	Flanking Active TSS	K562	blood
31	chr7:84542600-84543000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:84542600-84543000	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr7:84542600-84543000	Enhancers	Rectal Smooth Muscle	rectum
34	chr7:84542600-84543000	Active TSS	Stomach Smooth Muscle	stomach
35	chr7:84542600-84543200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:84542600-84543200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:84542600-84543200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:84542600-84543200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr7:84542600-84543200	Flanking Active TSS	Colon Smooth Muscle	Colon
40	chr7:84542600-84543200	Flanking Active TSS	A549	lung
41	chr7:84542600-84543400	Enhancers	Osteobl	bone

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