Variant report

Variant	rs16986304
Chromosome Location	chr19:55709592-55709593
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:55708300..55709825-chr19:55709911..55711618,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs4252572	1.00[MEX][hapmap]
rs4806652	1.00[MEX][hapmap]
rs56118388	1.00[AMR][1000 genomes]
rs56265043	1.00[AMR][1000 genomes]
rs56740066	1.00[AMR][1000 genomes]
rs58160126	1.00[AMR][1000 genomes]
rs7258287	1.00[MEX][hapmap]
rs7258659	1.00[MEX][hapmap]
rs7260246	1.00[MEX][hapmap]
rs73935320	1.00[AMR][1000 genomes]
rs73935321	1.00[AMR][1000 genomes]
rs73935322	1.00[AMR][1000 genomes]
rs73935323	1.00[AMR][1000 genomes]
rs73935324	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1816335	chr19:55683977-55901099	Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs16986304	NDUFA4L2	trans	lymphoblastoid	seeQTL
rs16986304	SCT	trans	lymphoblastoid	seeQTL
rs16986304	FOXG1	trans	lymphoblastoid	seeQTL

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55691200-55718200	Weak transcription	Right Atrium	heart
2	chr19:55691600-55718200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:55691800-55717600	Strong transcription	Fetal Intestine Small	intestine
4	chr19:55692200-55710000	Weak transcription	Pancreas	Pancrea
5	chr19:55692600-55717000	Strong transcription	Duodenum Mucosa	Duodenum
6	chr19:55701200-55718000	Weak transcription	A549	lung
7	chr19:55701400-55711600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr19:55701400-55718400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:55702600-55714800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr19:55702800-55713400	Weak transcription	Small Intestine	intestine
11	chr19:55703000-55717800	Weak transcription	Hela-S3	cervix
12	chr19:55703200-55711400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr19:55704200-55718200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr19:55704800-55717400	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr19:55705000-55714200	Strong transcription	HepG2	liver
16	chr19:55705000-55717000	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr19:55707000-55713600	Strong transcription	Fetal Intestine Large	intestine
18	chr19:55707200-55718400	Weak transcription	Brain Angular Gyrus	brain
19	chr19:55707800-55713800	Strong transcription	K562	blood
20	chr19:55707800-55715600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr19:55707800-55717200	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr19:55708000-55713000	Strong transcription	Fetal Stomach	stomach
23	chr19:55708200-55710400	Strong transcription	Stomach Mucosa	stomach
24	chr19:55708600-55709600	Weak transcription	Gastric	stomach
25	chr19:55708800-55720600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr19:55709400-55710200	Weak transcription	Colonic Mucosa	Colon
27	chr19:55709400-55715800	Weak transcription	Spleen	Spleen

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