Variant report

Variant	rs12948735
Chromosome Location	chr17:19633963-19633964
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1006554	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11204411	0.89[EUR][1000 genomes]
rs11204412	0.88[EUR][1000 genomes]
rs11204413	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11204414	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12942065	0.93[ASN][1000 genomes]
rs12945122	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12948209	0.93[ASN][1000 genomes]
rs2010728	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2108967	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3744693	0.90[ASN][1000 genomes]
rs4646787	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4924793	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4925044	0.93[ASN][1000 genomes]
rs7209418	0.89[EUR][1000 genomes]
rs7212752	0.88[ASN][1000 genomes]
rs7214841	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7221211	0.93[EUR][1000 genomes]
rs7222877	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8064572	0.90[ASN][1000 genomes]
rs8073794	0.83[ASN][1000 genomes]
rs8077368	0.84[EUR][1000 genomes]
rs887241	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9910370	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[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	nsv482827	chr17:19456848-19645771	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1063892	chr17:19564634-19808485	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv907866	chr17:19582533-19697976	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	esv1807724	chr17:19597423-19656009	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv907867	chr17:19603060-19697976	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	esv1793043	chr17:19604821-19670329	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv526290	chr17:19613357-19651482	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv457704	chr17:19620477-19663747	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv470582	chr17:19620477-19663747	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv574580	chr17:19620477-19663747	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19617600-19635400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr17:19623200-19648400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr17:19628200-19640800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr17:19631600-19634000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr17:19631600-19635000	Enhancers	Fetal Muscle Trunk	muscle
6	chr17:19631800-19634000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr17:19631800-19636800	Weak transcription	Fetal Intestine Large	intestine
8	chr17:19631800-19637600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr17:19631800-19639400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr17:19632000-19648000	Weak transcription	Spleen	Spleen
11	chr17:19632200-19634200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr17:19632200-19634200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr17:19632200-19634400	Weak transcription	Adipose Nuclei	Adipose
14	chr17:19632200-19636800	Weak transcription	Fetal Intestine Small	intestine
15	chr17:19632200-19636800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr17:19632200-19637000	Weak transcription	Stomach Mucosa	stomach
17	chr17:19632200-19637600	Weak transcription	Small Intestine	intestine
18	chr17:19632200-19640400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr17:19632400-19634600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr17:19632400-19634600	Weak transcription	A549	lung
21	chr17:19632800-19634200	Weak transcription	HepG2	liver
22	chr17:19632800-19634400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr17:19632800-19634400	Weak transcription	Lung	lung
24	chr17:19633200-19639600	Weak transcription	Gastric	stomach
25	chr17:19633400-19634200	Weak transcription	HSMMtube	muscle
26	chr17:19633400-19634400	Weak transcription	Esophagus	oesophagus
27	chr17:19633400-19634600	Weak transcription	Right Atrium	heart
28	chr17:19633600-19634600	Weak transcription	Brain Anterior Caudate	brain
29	chr17:19633600-19638600	Weak transcription	Ovary	ovary
30	chr17:19633800-19634200	Weak transcription	Fetal Muscle Leg	muscle
31	chr17:19633800-19634200	Weak transcription	Placenta	Placenta

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