Variant report

Variant	rs73180180
Chromosome Location	chr7:83591711-83591712
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17158354	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17158408	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17158435	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17158437	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17158447	0.82[AFR][1000 genomes]
rs17158451	0.82[AFR][1000 genomes]
rs3801590	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41530448	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55681101	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56079403	0.84[EUR][1000 genomes]
rs57671541	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180153	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180162	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180163	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180176	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180185	0.93[EUR][1000 genomes]
rs740947	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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	nsv888620	chr7:83459908-83593805	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	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
4	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

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83584600-83593000	Weak transcription	NHLF	lung
2	chr7:83585600-83597800	Weak transcription	Gastric	stomach
3	chr7:83586800-83592800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:83587600-83593000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:83588000-83592600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:83588000-83593800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:83588200-83605200	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:83588600-83592800	Strong transcription	NHDF-Ad	bronchial
9	chr7:83588800-83599400	Weak transcription	Fetal Brain Male	brain
10	chr7:83588800-83624600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:83589000-83605000	Weak transcription	Hela-S3	cervix
12	chr7:83589000-83654600	Weak transcription	Fetal Stomach	stomach
13	chr7:83589200-83616600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:83589400-83592000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr7:83589400-83592400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:83589400-83605200	Weak transcription	Fetal Intestine Small	intestine
17	chr7:83589600-83592000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr7:83589600-83592000	Weak transcription	Adipose Nuclei	Adipose
19	chr7:83589800-83591800	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr7:83589800-83592200	Weak transcription	Brain Anterior Caudate	brain
21	chr7:83590000-83591800	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr7:83590000-83593400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:83590200-83593400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:83590400-83592800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:83591000-83599200	Weak transcription	Fetal Brain Female	brain
26	chr7:83591000-83624200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr7:83591000-83633800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:83591200-83592400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr7:83591200-83593600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr7:83591200-83596000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:83591200-83599200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr7:83591200-83599600	Weak transcription	Fetal Kidney	kidney
33	chr7:83591200-83607600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr7:83591200-83614400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr7:83591200-83615800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr7:83591200-83634200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr7:83591200-83638400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:83591200-83654600	Weak transcription	Fetal Muscle Leg	muscle
39	chr7:83591400-83592200	Weak transcription	Fetal Lung	lung

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