Variant report

Variant	rs16939913
Chromosome Location	chr18:12841732-12841733
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12836859..12842714-chr18:12880630..12885724,12	MCF-7	breast:
2	chr18:12828322..12831138-chr18:12840909..12843009,2	K562	blood:
3	chr18:12838530..12843294-chr18:12882526..12884530,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175354	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10468685	1.00[EUR][1000 genomes]
rs13381820	1.00[EUR][1000 genomes]
rs16939851	1.00[EUR][1000 genomes]
rs2542173	1.00[EUR][1000 genomes]
rs28436108	1.00[EUR][1000 genomes]
rs2847263	1.00[EUR][1000 genomes]
rs2847264	1.00[EUR][1000 genomes]
rs28579212	1.00[EUR][1000 genomes]
rs57580816	1.00[EUR][1000 genomes]
rs58839955	1.00[EUR][1000 genomes]
rs59434054	1.00[EUR][1000 genomes]
rs61320647	1.00[EUR][1000 genomes]
rs7229440	1.00[EUR][1000 genomes]
rs7232191	0.81[YRI][hapmap]
rs7236539	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7240157	1.00[EUR][1000 genomes]
rs73407719	1.00[EUR][1000 genomes]
rs73407722	1.00[EUR][1000 genomes]
rs73407750	1.00[EUR][1000 genomes]
rs73407763	1.00[EUR][1000 genomes]
rs73407884	1.00[EUR][1000 genomes]
rs73416976	1.00[EUR][1000 genomes]
rs73419110	1.00[EUR][1000 genomes]
rs8083404	1.00[EUR][1000 genomes]
rs8087452	1.00[EUR][1000 genomes]
rs8099254	1.00[EUR][1000 genomes]
rs908577	1.00[EUR][1000 genomes]
rs9946422	1.00[EUR][1000 genomes]
rs9951546	1.00[EUR][1000 genomes]
rs9953795	1.00[EUR][1000 genomes]
rs9958518	1.00[EUR][1000 genomes]
rs9964950	1.00[EUR][1000 genomes]
rs9965936	1.00[EUR][1000 genomes]
rs9966740	1.00[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	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
5	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
6	nsv1064844	chr18:12748045-12953235	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
7	nsv543656	chr18:12748045-12953235	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12802000-12842400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr18:12807200-12842400	Weak transcription	Fetal Heart	heart
3	chr18:12814400-12843400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr18:12821800-12851800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr18:12827600-12843400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr18:12828400-12842600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr18:12828400-12856000	Weak transcription	Fetal Kidney	kidney
8	chr18:12829000-12861200	Weak transcription	Fetal Brain Female	brain
9	chr18:12829000-12862600	Weak transcription	Brain Germinal Matrix	brain
10	chr18:12829200-12842200	Weak transcription	HUVEC	blood vessel
11	chr18:12834200-12850200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr18:12836800-12842400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr18:12838600-12841800	Weak transcription	Stomach Mucosa	stomach
14	chr18:12838600-12842200	Weak transcription	Placenta	Placenta
15	chr18:12838600-12842400	Weak transcription	Fetal Stomach	stomach
16	chr18:12838600-12843000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr18:12838600-12843000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr18:12838600-12843000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr18:12838600-12843400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr18:12838600-12843400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr18:12838600-12843400	Weak transcription	Gastric	stomach
22	chr18:12838600-12848400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr18:12838600-12851800	Weak transcription	Fetal Brain Male	brain
24	chr18:12838600-12852000	Weak transcription	Ovary	ovary
25	chr18:12838600-12854000	Weak transcription	Left Ventricle	heart
26	chr18:12838600-12856000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr18:12838600-12856200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr18:12838600-12857200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr18:12838600-12861800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr18:12838600-12862000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr18:12838600-12862400	Weak transcription	NH-A	brain
32	chr18:12838600-12862600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr18:12838800-12842600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr18:12838800-12842800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr18:12838800-12851800	Weak transcription	Fetal Lung	lung
36	chr18:12838800-12852600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr18:12838800-12854600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr18:12838800-12855600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr18:12838800-12879000	Weak transcription	Psoas Muscle	Psoas
40	chr18:12839400-12842400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr18:12839400-12861200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr18:12839600-12842600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr18:12839600-12851600	Weak transcription	HSMMtube	muscle
44	chr18:12839600-12852000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr18:12839600-12854800	Weak transcription	Fetal Intestine Small	intestine
46	chr18:12839600-12855200	Weak transcription	Fetal Intestine Large	intestine
47	chr18:12839600-12857200	Weak transcription	Aorta	Aorta
48	chr18:12839600-12858800	Weak transcription	Adipose Nuclei	Adipose
49	chr18:12839600-12861200	Weak transcription	Brain Hippocampus Middle	brain
50	chr18:12839600-12862600	Weak transcription	HSMM	muscle

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