Variant report

Variant	rs73552646
Chromosome Location	chr19:39122598-39122599
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR3C1	chr19:39122330-39122765	A549	lung:	n/a	n/a
2	NR3C1	chr19:39122009-39122754	A549	lung:	n/a	n/a
3	BCL3	chr19:39122424-39124003	A549	lung:	n/a	chr19:39122735-39122742
4	POLR2A	chr19:39122382-39122607	A549	lung:	n/a	n/a
5	MAX	chr19:39122500-39122637	K562	blood:	n/a	n/a
6	POLR2A	chr19:39114094-39125094	PANC-1	pancreas:	n/a	n/a
7	MYC	chr19:39122476-39122974	A549	lung:	n/a	n/a
8	USF1	chr19:39122392-39122654	A549	lung:	n/a	n/a
9	BCL3	chr19:39122535-39123923	A549	lung:	n/a	chr19:39122735-39122742
10	SP1	chr19:39122013-39122878	A549	lung:	n/a	n/a
11	MAX	chr19:39122474-39124028	A549	lung:	n/a	chr19:39123613-39123623
12	USF1	chr19:39122322-39122773	A549	lung:	n/a	n/a
13	MAX	chr19:39122558-39122613	A549	lung:	n/a	n/a
14	SP1	chr19:39122225-39122953	A549	lung:	n/a	n/a
15	NR3C1	chr19:39122315-39122711	A549	lung:	n/a	n/a
16	NR3C1	chr19:39121910-39122791	A549	lung:	n/a	n/a
17	USF1	chr19:39122480-39122818	A549	lung:	n/a	n/a
18	USF1	chr19:39122319-39122748	A549	lung:	n/a	n/a
19	USF1	chr19:39122415-39122755	A549	lung:	n/a	n/a
20	POLR2A	chr19:39121075-39135235	PANC-1	pancreas:	n/a	n/a
21	EP300	chr19:39122426-39122949	A549	lung:	n/a	n/a
22	POLR2A	chr19:39122565-39122605	Hela-S3	cervix:	n/a	n/a
23	FOXA2	chr19:39122226-39122892	A549	lung:	n/a	n/a
24	TCF12	chr19:39122323-39123642	A549	lung:	n/a	n/a
25	MAX	chr19:39122505-39122990	A549	lung:	n/a	n/a
26	MAX	chr19:39122355-39122715	K562	blood:	n/a	n/a
27	NR2F2	chr19:39122379-39122724	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:39106830..39111691-chr19:39117375..39123240,7	MCF-7	breast:
2	chr19:39109264..39111637-chr19:39122200..39124366,4	MCF-7	breast:

No data

Variant related genes	Relation type
EIF3K	TF binding region
ENSG00000104814	Chromatin interaction
ENSG00000178982	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs16972636	1.00[EUR][1000 genomes]
rs16972639	1.00[EUR][1000 genomes]
rs2232994	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2232999	1.00[AMR][1000 genomes]
rs2459635	1.00[EUR][1000 genomes]
rs2915943	1.00[EUR][1000 genomes]
rs2960353	1.00[EUR][1000 genomes]
rs34694816	1.00[EUR][1000 genomes]
rs4564709	1.00[EUR][1000 genomes]
rs56942001	1.00[EUR][1000 genomes]
rs57706590	1.00[EUR][1000 genomes]
rs59112185	1.00[EUR][1000 genomes]
rs59703889	1.00[EUR][1000 genomes]
rs60228500	1.00[EUR][1000 genomes]
rs60491344	1.00[EUR][1000 genomes]
rs7245673	1.00[EUR][1000 genomes]
rs7258503	1.00[EUR][1000 genomes]
rs7259341	1.00[EUR][1000 genomes]
rs73933018	1.00[EUR][1000 genomes]
rs8104818	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	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv833826	chr19:38945106-39184547	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv833827	chr19:38993054-39184547	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv833828	chr19:39084759-39257979	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1057899	chr19:39088319-39475493	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
6	nsv1057901	chr19:39112486-39174332	Genic enhancers Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
7	nsv911667	chr19:39119898-39143289	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39110400-39122600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:39111000-39122600	Strong transcription	Fetal Intestine Small	intestine
3	chr19:39111000-39124000	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr19:39111000-39124400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
5	chr19:39111000-39124600	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr19:39111000-39125000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:39111000-39127000	Strong transcription	Thymus	Thymus
8	chr19:39111000-39127400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr19:39111000-39128800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr19:39111200-39123600	Strong transcription	Osteobl	bone
11	chr19:39111200-39123800	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr19:39111200-39123800	Strong transcription	Primary B cells from peripheral blood	blood
13	chr19:39111200-39123800	Strong transcription	Primary T cells from cord blood	blood
14	chr19:39111200-39124000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr19:39111200-39124000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr19:39111200-39124000	Strong transcription	Liver	Liver
17	chr19:39111200-39124000	Strong transcription	Brain Angular Gyrus	brain
18	chr19:39111200-39124000	Strong transcription	Placenta	Placenta
19	chr19:39111200-39124000	Strong transcription	Fetal Thymus	thymus
20	chr19:39111200-39124000	Strong transcription	Left Ventricle	heart
21	chr19:39111200-39124000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr19:39111200-39124200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr19:39111200-39124200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr19:39111200-39124200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr19:39111200-39124200	Strong transcription	Brain Germinal Matrix	brain
26	chr19:39111200-39124200	Strong transcription	Fetal Brain Female	brain
27	chr19:39111200-39124200	Strong transcription	Lung	lung
28	chr19:39111200-39124400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr19:39111200-39124400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr19:39111200-39124400	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr19:39111200-39124400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr19:39111200-39124400	Strong transcription	Adipose Nuclei	Adipose
33	chr19:39111200-39124400	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr19:39111200-39124600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr19:39111200-39125000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr19:39111200-39125000	Strong transcription	Duodenum Mucosa	Duodenum
37	chr19:39111200-39125000	Strong transcription	Fetal Muscle Leg	muscle
38	chr19:39111200-39125200	Weak transcription	Fetal Heart	heart
39	chr19:39111200-39125400	Strong transcription	Fetal Muscle Trunk	muscle
40	chr19:39111200-39126600	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr19:39111200-39127600	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr19:39111200-39127600	Strong transcription	Brain Anterior Caudate	brain
43	chr19:39111200-39130400	Strong transcription	Stomach Smooth Muscle	stomach
44	chr19:39111200-39130800	Strong transcription	Fetal Stomach	stomach
45	chr19:39111200-39131000	Weak transcription	Right Atrium	heart
46	chr19:39111400-39123800	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr19:39111400-39123800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr19:39111400-39124000	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr19:39111400-39124800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr19:39111400-39124800	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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