Variant report

Variant	rs7193580
Chromosome Location	chr16:58717478-58717479
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr16:58717271-58717622	HepG2	liver:	n/a	chr16:58717446-58717461 chr16:58717451-58717462 chr16:58717451-58717462
2	CTCF	chr16:58717400-58717550	Hela-S3	cervix:	n/a	n/a
3	MAFK	chr16:58717342-58717578	HepG2	liver:	n/a	chr16:58717446-58717461 chr16:58717451-58717462 chr16:58717451-58717462
4	MAFK	chr16:58717262-58717625	IMR90	lung:	n/a	chr16:58717446-58717461 chr16:58717451-58717462 chr16:58717451-58717462
5	MAFF	chr16:58717354-58717600	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:58710638..58713256-chr16:58717157..58720061,3	K562	blood:
2	chr16:58709966..58712806-chr16:58716255..58718362,2	MCF-7	breast:
3	chr16:58717131..58719457-chr16:58766765..58768365,2	K562	blood:
4	chr16:58715146..58717917-chr16:58788280..58790471,2	MCF-7	breast:

Variant related genes	Relation type
SLC38A7	TF binding region
ENSG00000125166	Chromatin interaction
ENSG00000245768	Chromatin interaction
ENSG00000103042	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs13329892	1.00[EUR][1000 genomes]
rs13334745	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13334922	1.00[EUR][1000 genomes]
rs13335464	1.00[EUR][1000 genomes]
rs13335851	1.00[EUR][1000 genomes]
rs13335953	1.00[EUR][1000 genomes]
rs13337650	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	1.00[EUR][1000 genomes]
rs28533067	1.00[EUR][1000 genomes]
rs28613241	1.00[EUR][1000 genomes]
rs28644182	1.00[EUR][1000 genomes]
rs28744389	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34698978	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7186446	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73550817	1.00[EUR][1000 genomes]
rs73550821	1.00[EUR][1000 genomes]
rs8048686	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9746055	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9923409	1.00[EUR][1000 genomes]
rs9924494	1.00[EUR][1000 genomes]
rs9926053	1.00[EUR][1000 genomes]
rs9930277	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9938192	1.00[EUR][1000 genomes]
rs9938386	1.00[EUR][1000 genomes]
rs9939324	1.00[EUR][1000 genomes]
rs9941013	1.00[EUR][1000 genomes]
rs9941175	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758427	chr16:58579005-58876037	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2758650	chr16:58579005-58876037	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv510686	chr16:58646119-58765894	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv528513	chr16:58672763-58717874	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:58697800-58717600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:58699600-58717800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr16:58701200-58717800	Weak transcription	Fetal Lung	lung
4	chr16:58704200-58717600	Weak transcription	Stomach Mucosa	stomach
5	chr16:58711400-58718200	Weak transcription	Aorta	Aorta
6	chr16:58712800-58717600	Weak transcription	Colonic Mucosa	Colon
7	chr16:58713800-58717600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr16:58714000-58717600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr16:58714200-58717600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr16:58714200-58717800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr16:58714400-58717600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr16:58714800-58718000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr16:58715200-58717600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr16:58716000-58717600	Enhancers	Fetal Brain Female	brain
15	chr16:58716000-58717800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr16:58717000-58717600	Enhancers	Liver	Liver
17	chr16:58717000-58717600	Enhancers	Fetal Intestine Large	intestine
18	chr16:58717000-58717800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr16:58717000-58717800	Enhancers	Lung	lung
20	chr16:58717000-58718000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr16:58717000-58718000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr16:58717000-58718000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr16:58717000-58718000	Enhancers	Fetal Muscle Leg	muscle
24	chr16:58717000-58718000	Enhancers	Spleen	Spleen
25	chr16:58717000-58718400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr16:58717200-58717600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr16:58717200-58717600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr16:58717200-58717600	Enhancers	Primary T cells from cord blood	blood
29	chr16:58717200-58717600	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr16:58717200-58717600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr16:58717200-58717600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr16:58717200-58717600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr16:58717200-58717600	Enhancers	Brain Anterior Caudate	brain
34	chr16:58717200-58717600	Enhancers	Brain Substantia Nigra	brain
35	chr16:58717200-58717600	Enhancers	Fetal Heart	heart
36	chr16:58717200-58717600	Enhancers	Pancreas	Pancrea
37	chr16:58717200-58717600	Enhancers	Right Atrium	heart
38	chr16:58717200-58717600	Enhancers	Right Ventricle	heart
39	chr16:58717200-58717600	Flanking Active TSS	HepG2	liver
40	chr16:58717200-58717600	Enhancers	HSMMtube	muscle
41	chr16:58717200-58717800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr16:58717200-58717800	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr16:58717200-58717800	Enhancers	Primary T cells fromperipheralblood	blood
44	chr16:58717200-58717800	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr16:58717200-58717800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr16:58717200-58717800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr16:58717200-58717800	Enhancers	Placenta	Placenta
48	chr16:58717200-58717800	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr16:58717200-58717800	Enhancers	GM12878-XiMat	blood
50	chr16:58717200-58717800	Enhancers	HMEC	breast

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