Variant report

Variant	rs10246414
Chromosome Location	chr7:83596875-83596876
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10235361	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10236769	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10282146	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17158388	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28408929	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28645480	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35026047	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6945668	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6964737	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs740948	0.80[AMR][1000 genomes]
rs7786275	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7801026	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7802100	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7809708	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9656560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv607707	chr7:83381032-83646816	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv888622	chr7:83526743-83631376	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1020784	chr7:83577402-83687108	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv888623	chr7:83596683-83687622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv888624	chr7:83596683-83698177	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83585600-83597800	Weak transcription	Gastric	stomach
2	chr7:83588200-83605200	Weak transcription	Colon Smooth Muscle	Colon
3	chr7:83588800-83599400	Weak transcription	Fetal Brain Male	brain
4	chr7:83588800-83624600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:83589000-83605000	Weak transcription	Hela-S3	cervix
6	chr7:83589000-83654600	Weak transcription	Fetal Stomach	stomach
7	chr7:83589200-83616600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:83589400-83605200	Weak transcription	Fetal Intestine Small	intestine
9	chr7:83591000-83599200	Weak transcription	Fetal Brain Female	brain
10	chr7:83591000-83624200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr7:83591000-83633800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:83591200-83599200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr7:83591200-83599600	Weak transcription	Fetal Kidney	kidney
14	chr7:83591200-83607600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:83591200-83614400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr7:83591200-83615800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr7:83591200-83634200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr7:83591200-83638400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:83591200-83654600	Weak transcription	Fetal Muscle Leg	muscle
20	chr7:83591800-83604600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr7:83591800-83624600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr7:83592600-83599400	Weak transcription	Fetal Lung	lung
23	chr7:83592600-83626400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr7:83592800-83602000	Weak transcription	NHDF-Ad	bronchial
25	chr7:83592800-83603400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:83596400-83610400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:83596600-83598000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:83596600-83599800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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