Variant report

Variant	rs12672149
Chromosome Location	chr7:120676219-120676220
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120665801..120667354-chr7:120675569..120677821,2	K562	blood:
2	chr7:120669733..120671373-chr7:120674950..120676635,2	K562	blood:
3	chr7:120674087..120676521-chr7:120718031..120719674,2	K562	blood:
4	chr7:120673145..120676419-chr7:120676732..120680540,5	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10229719	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10258025	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs193727	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2013083	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2013087	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2215786	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2215789	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2525715	0.80[EUR][1000 genomes]
rs2525725	0.80[EUR][1000 genomes]
rs2525731	0.83[EUR][1000 genomes]
rs2525732	0.81[EUR][1000 genomes]
rs2525733	0.81[EUR][1000 genomes]
rs2525734	0.81[EUR][1000 genomes]
rs2525735	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2525738	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2525739	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2525740	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2721350	0.80[EUR][1000 genomes]
rs2721359	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2721361	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2721370	0.80[EUR][1000 genomes]
rs2896299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3944026	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41691	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs41692	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs41693	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs41694	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs41695	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs41697	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs41698	0.93[ASN][1000 genomes]
rs41703	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs41704	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4727915	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730985	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730987	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6953795	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6966297	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6973457	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7789501	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7808535	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv831114	chr7:120595624-120804510	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv608327	chr7:120633006-120873078	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv2753621	chr7:120635049-120800049	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1023611	chr7:120638930-120881658	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1030792	chr7:120662815-120917533	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1031282	chr7:120667937-120887301	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv539099	chr7:120667937-120887301	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1019025	chr7:120667937-120918696	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv539100	chr7:120667937-120918696	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv534342	chr7:120667938-120887300	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120666600-120683600	Weak transcription	Liver	Liver
2	chr7:120668600-120678200	Weak transcription	Psoas Muscle	Psoas
3	chr7:120669000-120678800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr7:120670400-120681600	Weak transcription	HSMM	muscle
5	chr7:120673200-120677000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr7:120673200-120678800	Weak transcription	NHLF	lung
7	chr7:120673200-120681600	Weak transcription	Fetal Stomach	stomach
8	chr7:120673200-120685200	Weak transcription	Left Ventricle	heart
9	chr7:120673400-120678800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr7:120673400-120681400	Weak transcription	NHDF-Ad	bronchial
11	chr7:120673400-120681600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:120673400-120681600	Weak transcription	Ovary	ovary
13	chr7:120673400-120689200	Weak transcription	HSMMtube	muscle
14	chr7:120673600-120677400	Genic enhancers	K562	blood
15	chr7:120673600-120678600	Weak transcription	Fetal Heart	heart
16	chr7:120673600-120678800	Weak transcription	Adipose Nuclei	Adipose
17	chr7:120673800-120694200	Weak transcription	Rectal Smooth Muscle	rectum

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