Variant report

Variant	rs73683405
Chromosome Location	chr7:18811380-18811381
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10234685	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10248443	1.00[ASN][1000 genomes]
rs11982615	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2519739	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28464929	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28690889	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7798646	0.83[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	nsv830917	chr7:18612436-18817712	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv531368	chr7:18677922-18836920	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv498112	chr7:18677922-18991946	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv887813	chr7:18720135-18995552	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv887814	chr7:18751998-18886177	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18790600-18835000	Weak transcription	Primary B cells from cord blood	blood
2	chr7:18807200-18811800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:18807600-18812200	Enhancers	HSMM	muscle
4	chr7:18807600-18812400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:18807800-18812000	Enhancers	NHDF-Ad	bronchial
6	chr7:18808000-18811800	Weak transcription	Fetal Brain Female	brain
7	chr7:18808200-18823200	Weak transcription	Aorta	Aorta
8	chr7:18808800-18812000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:18808800-18812400	Enhancers	NHEK	skin
10	chr7:18809600-18812600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:18809800-18811800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:18810000-18811400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:18810000-18812400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:18810200-18811800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:18810400-18811800	Enhancers	NH-A	brain
16	chr7:18810400-18812200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr7:18810600-18811600	Weak transcription	HMEC	breast
18	chr7:18810600-18812200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:18810600-18812400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:18810600-18812400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:18810800-18811800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:18810800-18812000	Enhancers	Osteobl	bone
23	chr7:18810800-18812200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:18810800-18812400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:18810800-18821600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr7:18811000-18811400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr7:18811200-18811600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr7:18811200-18811600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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