Variant report

Variant	rs9938192
Chromosome Location	chr16:58553215-58553216
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:58552648..58554644-chr16:58564462..58567513,3	MCF-7	breast:
2	chr16:58551410..58553487-chr16:58580099..58581967,2	K562	blood:
3	chr16:58545940..58551958-chr16:58552972..58559739,9	MCF-7	breast:
4	chr16:58541194..58542859-chr16:58552370..58554934,2	MCF-7	breast:
5	chr16:58540526..58542196-chr16:58550973..58553674,2	K562	blood:

Variant related genes	Relation type
ENSG00000103037	Chromatin interaction
ENSG00000103034	Chromatin interaction
ENSG00000125107	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs13329892	1.00[EUR][1000 genomes]
rs13334745	1.00[EUR][1000 genomes]
rs13334922	1.00[EUR][1000 genomes]
rs13335464	1.00[EUR][1000 genomes]
rs13335851	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13335953	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13337650	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13339352	1.00[EUR][1000 genomes]
rs28394663	1.00[EUR][1000 genomes]
rs28468502	1.00[EUR][1000 genomes]
rs28472773	1.00[EUR][1000 genomes]
rs28530777	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28533067	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28613241	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28644182	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28744389	1.00[EUR][1000 genomes]
rs34698978	1.00[EUR][1000 genomes]
rs57335704	1.00[EUR][1000 genomes]
rs7186446	1.00[EUR][1000 genomes]
rs7193580	1.00[EUR][1000 genomes]
rs73550817	1.00[EUR][1000 genomes]
rs73550821	1.00[EUR][1000 genomes]
rs73558468	1.00[EUR][1000 genomes]
rs8048686	1.00[EUR][1000 genomes]
rs9746055	1.00[EUR][1000 genomes]
rs9923409	1.00[EUR][1000 genomes]
rs9924494	1.00[EUR][1000 genomes]
rs9926053	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9930277	1.00[EUR][1000 genomes]
rs9938386	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9939324	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9941013	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9941175	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532532	chr16:58116482-58611986	Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv906743	chr16:58540989-58557342	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:58548800-58635600	Strong transcription	Dnd41	blood
2	chr16:58550000-58576200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr16:58550000-58635800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:58550400-58565800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr16:58550400-58595600	Strong transcription	NHDF-Ad	bronchial
6	chr16:58550600-58555000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr16:58550600-58557400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr16:58550600-58560200	Strong transcription	Gastric	stomach
9	chr16:58550600-58568000	Weak transcription	Right Atrium	heart
10	chr16:58550600-58569800	Strong transcription	Muscle Satellite Cultured Cells	--
11	chr16:58550600-58574800	Strong transcription	Brain Cingulate Gyrus	brain
12	chr16:58550600-58581000	Strong transcription	NH-A	brain
13	chr16:58550600-58594800	Strong transcription	A549	lung
14	chr16:58550600-58595600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr16:58550600-58596400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr16:58550600-58596800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr16:58550600-58625200	Strong transcription	Fetal Muscle Trunk	muscle
18	chr16:58550600-58635200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr16:58550800-58555800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr16:58550800-58556200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr16:58550800-58560200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr16:58550800-58561600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr16:58550800-58561800	Strong transcription	Colonic Mucosa	Colon
24	chr16:58550800-58562000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr16:58550800-58562000	Strong transcription	Esophagus	oesophagus
26	chr16:58550800-58562400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr16:58550800-58562400	Strong transcription	Brain Angular Gyrus	brain
28	chr16:58550800-58562400	Strong transcription	Brain Inferior Temporal Lobe	brain
29	chr16:58550800-58562400	Strong transcription	Fetal Brain Female	brain
30	chr16:58550800-58562400	Strong transcription	Fetal Stomach	stomach
31	chr16:58550800-58562400	Strong transcription	Spleen	Spleen
32	chr16:58550800-58569600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr16:58550800-58575800	Strong transcription	HSMMtube	muscle
34	chr16:58550800-58580400	Strong transcription	Stomach Smooth Muscle	stomach
35	chr16:58550800-58581200	Strong transcription	Osteobl	bone
36	chr16:58550800-58581400	Strong transcription	Rectal Smooth Muscle	rectum
37	chr16:58550800-58585800	Strong transcription	Brain Anterior Caudate	brain
38	chr16:58550800-58594200	Strong transcription	HUVEC	blood vessel
39	chr16:58550800-58594600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr16:58550800-58594600	Strong transcription	HSMM	muscle
41	chr16:58550800-58594800	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr16:58550800-58594800	Strong transcription	Placenta	Placenta
43	chr16:58550800-58595200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr16:58550800-58595200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr16:58550800-58596600	Strong transcription	Fetal Intestine Large	intestine
46	chr16:58550800-58597000	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr16:58550800-58606000	Strong transcription	Primary B cells from cord blood	blood
48	chr16:58550800-58616600	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr16:58550800-58623200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr16:58550800-58625000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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