Variant report

Variant	rs4729605
Chromosome Location	chr7:100310333-100310334
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100269447..100271845-chr7:100308979..100311656,2	K562	blood:
2	chr7:100305178..100307806-chr7:100309002..100310752,2	K562	blood:
3	chr7:100302997..100306317-chr7:100307854..100311293,5	K562	blood:
4	chr7:100309225..100310929-chr7:100424657..100426937,2	MCF-7	breast:
5	chr7:100271159..100273247-chr7:100310309..100312389,2	MCF-7	breast:
6	chr7:100305376..100308279-chr7:100309980..100311961,3	MCF-7	breast:
7	chr7:100301507..100303500-chr7:100307658..100310486,2	MCF-7	breast:
8	chr7:100282433..100285294-chr7:100309934..100311956,3	MCF-7	breast:
9	chr7:100305043..100306603-chr7:100309805..100312411,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000172336	Chromatin interaction
ENSG00000146830	Chromatin interaction
ENSG00000196411	Chromatin interaction
ENSG00000172354	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10953300	0.89[EUR][1000 genomes]
rs11520986	0.89[EUR][1000 genomes]
rs11760602	0.89[EUR][1000 genomes]
rs11765509	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11769012	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11772052	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11772705	0.91[ASN][1000 genomes]
rs11772849	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11973874	0.89[EUR][1000 genomes]
rs11974395	0.91[EUR][1000 genomes]
rs11979818	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11980509	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11983334	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11984421	0.86[EUR][1000 genomes]
rs12531792	0.90[EUR][1000 genomes]
rs2272572	0.89[EUR][1000 genomes]
rs4727459	0.91[EUR][1000 genomes]
rs4729602	0.89[EUR][1000 genomes]
rs4729606	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4729607	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62482249	0.89[EUR][1000 genomes]
rs62482250	0.89[EUR][1000 genomes]
rs62482251	0.89[EUR][1000 genomes]
rs62482252	0.88[EUR][1000 genomes]
rs62483567	0.93[EUR][1000 genomes]
rs62483569	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62483570	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
3	nsv888785	chr7:100141861-100313420	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv888786	chr7:100159567-100313420	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv831072	chr7:100162503-100362835	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
6	nsv888791	chr7:100221867-100371114	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv607933	chr7:100240191-100365613	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	nsv470381	chr7:100240191-100431980	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
9	nsv8184	chr7:100240737-100345945	Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
10	nsv888792	chr7:100252918-100329189	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
11	esv1804951	chr7:100275135-100374093	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4729605	PERQ1	Cis_1M	lymphoblastoid	RTeQTL
rs4729605	MOSPD3	cis	Whole Blood	GTEx

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100305000-100318000	Weak transcription	Right Atrium	heart
2	chr7:100305200-100310400	Weak transcription	Brain Anterior Caudate	brain
3	chr7:100305200-100311000	Weak transcription	Fetal Intestine Large	intestine
4	chr7:100305200-100311800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr7:100305200-100313200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr7:100305200-100313400	Weak transcription	Brain Germinal Matrix	brain
7	chr7:100305200-100315000	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr7:100305200-100318400	Weak transcription	Gastric	stomach
9	chr7:100305400-100311400	Weak transcription	Brain Angular Gyrus	brain
10	chr7:100305400-100313000	Weak transcription	NH-A	brain
11	chr7:100305600-100312200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr7:100306000-100313200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:100306200-100314400	Weak transcription	Lung	lung
14	chr7:100306400-100311000	Weak transcription	K562	blood
15	chr7:100306400-100313200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr7:100306600-100311600	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr7:100306800-100312400	Weak transcription	Primary T cells from cord blood	blood
18	chr7:100306800-100312400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr7:100306800-100312400	Weak transcription	Fetal Muscle Leg	muscle
20	chr7:100306800-100315400	Weak transcription	Placenta	Placenta
21	chr7:100306800-100315600	Weak transcription	HepG2	liver
22	chr7:100307000-100310400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:100307000-100311400	Weak transcription	Fetal Intestine Small	intestine
24	chr7:100307800-100311600	Weak transcription	Fetal Stomach	stomach
25	chr7:100309600-100312400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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