Variant report

Variant	rs73676207
Chromosome Location	chr7:11872530-11872531
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr7:11867300-11874339	SK-N-SH	brain:	n/a	n/a
2	REST	chr7:11870764-11872547	H1-neurons	neurons:	n/a	chr7:11871699-11871717 chr7:11871323-11871331

Variant related genes	Relation type
THSD7A	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12111826	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12672168	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16877200	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16877205	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16877210	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17165253	0.82[EUR][1000 genomes]
rs17165261	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17165265	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1815107	0.85[EUR][1000 genomes]
rs1815108	0.82[EUR][1000 genomes]
rs59090152	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73676214	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73676254	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73676255	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73676258	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73676259	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73676260	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7786553	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7788522	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	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv887614	chr7:11778424-12211198	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv830905	chr7:11793513-11941594	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv606203	chr7:11870711-11915630	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv887615	chr7:11870711-11938060	Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11867400-11873400	Active TSS	A549	lung
2	chr7:11872000-11873400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:11872200-11873000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr7:11872200-11873200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:11872200-11873200	Weak transcription	Right Ventricle	heart
6	chr7:11872200-11873600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:11872200-11873600	Enhancers	Brain Germinal Matrix	brain
8	chr7:11872200-11873800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:11872200-11873800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr7:11872200-11874000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:11872200-11874000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:11872200-11875200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr7:11872400-11872800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:11872400-11872800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:11872400-11873000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:11872400-11873000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr7:11872400-11873200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:11872400-11873400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:11872400-11873400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr7:11872400-11873400	Weak transcription	Fetal Kidney	kidney
21	chr7:11872400-11873600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr7:11872400-11873600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr7:11872400-11873600	Enhancers	Fetal Brain Female	brain
24	chr7:11872400-11873600	Enhancers	Fetal Lung	lung
25	chr7:11872400-11873800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr7:11872400-11874000	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr7:11872400-11874200	Enhancers	Primary hematopoietic stem cells	blood

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