Variant report

Variant	rs73730413
Chromosome Location	chr7:138346428-138346429
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:138345488..138347263-chr7:138348820..138351165,2	K562	blood:

Variant related genes	Relation type
ENSG00000157703	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12668659	0.97[ASN][1000 genomes]
rs28625106	0.98[ASN][1000 genomes]
rs58299439	0.97[ASN][1000 genomes]
rs61316977	0.97[ASN][1000 genomes]
rs73730412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73730414	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73730422	0.84[EUR][1000 genomes]
rs7777388	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030956	chr7:138163169-138579519	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138343400-138347200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr7:138344600-138347600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:138344800-138346600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:138345600-138348200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr7:138345800-138346600	Bivalent Enhancer	HepG2	liver
6	chr7:138345800-138346800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr7:138345800-138348200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr7:138345800-138348600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:138345800-138349400	Enhancers	Fetal Heart	heart
10	chr7:138346000-138347400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:138346000-138348400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr7:138346000-138348400	Enhancers	Primary hematopoietic stem cells	blood
13	chr7:138346000-138348400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:138346000-138348600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:138346200-138348400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:138346200-138348400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr7:138346400-138346800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr7:138346400-138346800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:138346400-138347600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:138346400-138347800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:138346400-138347800	Weak transcription	Fetal Kidney	kidney
22	chr7:138346400-138348600	Enhancers	Placenta	Placenta
23	chr7:138346400-138348600	Enhancers	Placenta Amnion	Placenta Amnion

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