Variant report

Variant	rs12531591
Chromosome Location	chr7:48182649-48182650
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12535451	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17712043	0.94[YRI][hapmap]
rs2686792	0.88[ASW][hapmap]
rs6463467	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73339603	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73339629	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73339644	0.80[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73339647	0.80[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7385436	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv532120	chr7:47882757-48195869	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv470221	chr7:47917495-48354363	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv464442	chr7:47917495-48354820	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv606893	chr7:47917495-48354820	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1027414	chr7:48117684-48438543	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1033738	chr7:48143988-48349357	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48174400-48186600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:48179200-48184600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:48179200-48184600	Enhancers	Stomach Mucosa	stomach
4	chr7:48180000-48184000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:48180200-48183200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr7:48180200-48186600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:48180400-48183600	Weak transcription	Hela-S3	cervix
8	chr7:48180600-48183400	Weak transcription	Pancreas	Pancrea
9	chr7:48180600-48183400	Enhancers	HepG2	liver
10	chr7:48180600-48183600	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr7:48180600-48183600	Weak transcription	A549	lung
12	chr7:48180800-48183400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
13	chr7:48181200-48183000	Weak transcription	Colonic Mucosa	Colon
14	chr7:48181200-48186400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:48181400-48183200	Weak transcription	Liver	Liver
16	chr7:48182400-48183200	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr7:48182400-48186800	ZNF genes & repeats	Fetal Intestine Small	intestine
18	chr7:48182600-48183000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr7:48182600-48183200	Enhancers	Duodenum Mucosa	Duodenum
20	chr7:48182600-48185400	Weak transcription	Small Intestine	intestine

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