Variant report

Variant	rs11650944
Chromosome Location	chr17:16769659-16769660
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs7210442	0.81[EUR][1000 genomes]
rs899809	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][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:36 , 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	chr17:16764600-16769800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr17:16765000-16769800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr17:16767800-16770200	Enhancers	HUVEC	blood vessel
6	chr17:16768200-16769800	Weak transcription	Spleen	Spleen
7	chr17:16768400-16769800	Weak transcription	Fetal Intestine Large	intestine
8	chr17:16768800-16770000	Enhancers	HMEC	breast
9	chr17:16769000-16770000	Enhancers	Adipose Nuclei	Adipose
10	chr17:16769000-16770200	Enhancers	Osteobl	bone
11	chr17:16769200-16769800	Enhancers	Hela-S3	cervix
12	chr17:16769200-16770000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr17:16769200-16770000	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr17:16769200-16770000	Enhancers	NHEK	skin
15	chr17:16769200-16770200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr17:16769200-16770200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr17:16769200-16770200	Flanking Active TSS	A549	lung
18	chr17:16769200-16770400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr17:16769200-16770400	Enhancers	Stomach Mucosa	stomach
20	chr17:16769200-16770400	Enhancers	NHDF-Ad	bronchial
21	chr17:16769400-16769800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr17:16769400-16770000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr17:16769400-16770000	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr17:16769400-16770000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr17:16769400-16770000	Enhancers	Duodenum Mucosa	Duodenum
26	chr17:16769400-16770000	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr17:16769400-16770200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr17:16769400-16770200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr17:16769400-16770200	Enhancers	Brain Anterior Caudate	brain
30	chr17:16769400-16770200	Enhancers	Brain Hippocampus Middle	brain
31	chr17:16769400-16770400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr17:16769400-16770400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr17:16769400-16770400	Enhancers	Liver	Liver
34	chr17:16769400-16770400	Enhancers	Brain Cingulate Gyrus	brain
35	chr17:16769400-16771200	Enhancers	Fetal Intestine Small	intestine
36	chr17:16769600-16770400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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