Variant report

Variant	rs12944998
Chromosome Location	chr17:16769801-16769802
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs28533778	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28581639	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34318117	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35666955	0.86[EUR][1000 genomes]
rs4324171	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4456539	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4461114	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4474732	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7221580	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7225366	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9892059	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9892392	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9892993	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9899049	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9899666	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9903427	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9907451	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9907993	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9908101	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9910147	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9911345	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9912757	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9915300	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058448	chr17:16389870-16926287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	esv2758442	chr17:16527056-16817437	Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2758676	chr17:16527056-16817437	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv427991	chr17:16527056-16817437	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv984504	chr17:16572370-16776542	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv907723	chr17:16643881-16777177	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh 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 miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv2753951	chr17:16660721-16848750	Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	esv2755100	chr17:16660721-16848750	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv833379	chr17:16683585-16859539	Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv9498	chr17:16716331-16777806	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	esv1844622	chr17:16717002-16779412	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	esv1847753	chr17:16717002-16779412	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv960065	chr17:16758719-16789003	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16758200-16775200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr17:16762200-16776800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr17:16767800-16770200	Enhancers	HUVEC	blood vessel
4	chr17:16768800-16770000	Enhancers	HMEC	breast
5	chr17:16769000-16770000	Enhancers	Adipose Nuclei	Adipose
6	chr17:16769000-16770200	Enhancers	Osteobl	bone
7	chr17:16769200-16770000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr17:16769200-16770000	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr17:16769200-16770000	Enhancers	NHEK	skin
10	chr17:16769200-16770200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr17:16769200-16770200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr17:16769200-16770200	Flanking Active TSS	A549	lung
13	chr17:16769200-16770400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr17:16769200-16770400	Enhancers	Stomach Mucosa	stomach
15	chr17:16769200-16770400	Enhancers	NHDF-Ad	bronchial
16	chr17:16769400-16770000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr17:16769400-16770000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr17:16769400-16770000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr17:16769400-16770000	Enhancers	Duodenum Mucosa	Duodenum
20	chr17:16769400-16770000	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr17:16769400-16770200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr17:16769400-16770200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr17:16769400-16770200	Enhancers	Brain Anterior Caudate	brain
24	chr17:16769400-16770200	Enhancers	Brain Hippocampus Middle	brain
25	chr17:16769400-16770400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr17:16769400-16770400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr17:16769400-16770400	Enhancers	Liver	Liver
28	chr17:16769400-16770400	Enhancers	Brain Cingulate Gyrus	brain
29	chr17:16769400-16771200	Enhancers	Fetal Intestine Small	intestine
30	chr17:16769600-16770400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr17:16769800-16770000	Enhancers	Spleen	Spleen
32	chr17:16769800-16770200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr17:16769800-16770200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr17:16769800-16770200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
35	chr17:16769800-16770200	Enhancers	Fetal Stomach	stomach
36	chr17:16769800-16770400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr17:16769800-16770400	Enhancers	Lung	lung
38	chr17:16769800-16770600	Enhancers	Fetal Intestine Large	intestine
39	chr17:16769800-16770600	Flanking Active TSS	Hela-S3	cervix
40	chr17:16769800-16771200	Enhancers	Placenta Amnion	Placenta Amnion
41	chr17:16769800-16774000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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