Variant report

Variant	rs2270007
Chromosome Location	chr7:30699972-30699973
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 14 )

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

rs_ID	r²[population]
rs2709787	0.87[EUR][1000 genomes]
rs38473	0.82[EUR][1000 genomes]
rs38478	0.83[EUR][1000 genomes]
rs38485	0.88[EUR][1000 genomes]
rs38488	0.88[EUR][1000 genomes]
rs38498	0.83[EUR][1000 genomes]
rs973002	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs975537	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv538811	chr7:30549595-31405593	Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1016256	chr7:30649212-31163056	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1023120	chr7:30655070-31185096	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv2761316	chr7:30655082-31166676	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv527038	chr7:30657467-31161945	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv916877	chr7:30661135-31154731	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv1017168	chr7:30663213-31166676	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv1017808	chr7:30671936-31150473	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv830938	chr7:30684230-30897523	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs2270007	AC005154.6	cis	Artery Tibial	GTEx
rs2270007	AC005154.6	cis	Muscle Skeletal	GTEx
rs2270007	AC005154.6	cis	Nerve Tibial	GTEx
rs2270007	AC005154.8	cis	Whole Blood	GTEx
rs2270007	AC005154.6	cis	Stomach	GTEx
rs2270007	LOC222159	Cis_1M	lymphoblastoid	RTeQTL
rs2270007	AC005154.6	cis	Thyroid	GTEx
rs2270007	AC005154.6	cis	Esophagus Mucosa	GTEx
rs2270007	AC005154.6	cis	Skin Sun Exposed Lower leg	GTEx
rs2270007	AC005154.6	cis	Adipose Subcutaneous	GTEx
rs2270007	AC005154.6	cis	Artery Aorta	GTEx
rs2270007	LOC401320	Cis_1M	lymphoblastoid	RTeQTL
rs2270007	AC005154.6	cis	Esophagus Muscularis	GTEx
rs2270007	AC005154.6	cis	lung	GTEx

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:30676000-30700400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:30686200-30703200	Weak transcription	Esophagus	oesophagus
3	chr7:30688800-30706400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:30690200-30704000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:30691400-30701600	Weak transcription	Right Atrium	heart
6	chr7:30694400-30700400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr7:30694400-30700600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:30694600-30700400	Weak transcription	Fetal Muscle Leg	muscle
9	chr7:30694600-30703200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:30695000-30700600	Weak transcription	Fetal Intestine Small	intestine
11	chr7:30696200-30707600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:30698000-30700000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr7:30698800-30700200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr7:30699600-30701000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr7:30699600-30701800	Enhancers	Fetal Brain Male	brain
16	chr7:30699800-30700200	Active TSS	Gastric	stomach
17	chr7:30699800-30700400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:30699800-30701000	Enhancers	Fetal Brain Female	brain
19	chr7:30699800-30701200	Enhancers	Brain Germinal Matrix	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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