Variant report

Variant	rs9900244
Chromosome Location	chr17:19483621-19483622
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	POLR2A	chr17:19483602-19484254	HepG2	liver:	n/a	n/a
2	FOSL2	chr17:19483396-19483833	HepG2	liver:	n/a	n/a
3	MAX	chr17:19482659-19483719	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr17:19483494-19483695	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC47A1-1	chr17:19483547-19483648	NONHSAT146500

Variant related genes	Relation type
ENSG00000228983	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs7218496	1.00[AMR][1000 genomes]
rs7222765	1.00[AMR][1000 genomes]
rs7222948	1.00[AMR][1000 genomes]
rs9903610	1.00[AMR][1000 genomes]
rs9916406	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428337	chr17:19340045-19585774	Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv482827	chr17:19456848-19645771	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv1061408	chr17:19458185-19613357	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19464000-19483800	Weak transcription	A549	lung
2	chr17:19481200-19485600	Weak transcription	HepG2	liver
3	chr17:19482600-19483800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr17:19482600-19483800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr17:19482600-19484000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr17:19482600-19484000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr17:19482600-19484000	Bivalent Enhancer	Placenta	Placenta
8	chr17:19482800-19483800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr17:19482800-19483800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr17:19482800-19483800	Active TSS	H9 Cell Line	embryonic stem cell
11	chr17:19482800-19483800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
12	chr17:19482800-19483800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr17:19482800-19483800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr17:19482800-19483800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr17:19482800-19483800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
16	chr17:19482800-19484000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
17	chr17:19482800-19484000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
18	chr17:19482800-19484000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr17:19482800-19484000	Active TSS	Brain Germinal Matrix	brain
20	chr17:19483000-19483800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr17:19483000-19483800	Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr17:19483000-19483800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr17:19483000-19483800	Active TSS	Aorta	Aorta
24	chr17:19483000-19483800	Bivalent/Poised TSS	Fetal Brain Female	brain
25	chr17:19483000-19483800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
26	chr17:19483000-19483800	Active TSS	Psoas Muscle	Psoas
27	chr17:19483000-19483800	Active TSS	Right Atrium	heart
28	chr17:19483000-19484000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr17:19483000-19484000	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr17:19483000-19484200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
31	chr17:19483200-19483800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr17:19483200-19483800	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr17:19483200-19483800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr17:19483200-19483800	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr17:19483200-19483800	Flanking Active TSS	Right Ventricle	heart
36	chr17:19483200-19483800	Flanking Bivalent TSS/Enh	HMEC	breast
37	chr17:19483200-19483800	Bivalent/Poised TSS	NH-A	brain
38	chr17:19483200-19483800	Bivalent/Poised TSS	Osteobl	bone
39	chr17:19483200-19484000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr17:19483200-19484000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
41	chr17:19483400-19483800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr17:19483400-19483800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr17:19483400-19483800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr17:19483400-19483800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr17:19483400-19483800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr17:19483400-19483800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
47	chr17:19483400-19483800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
48	chr17:19483400-19483800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr17:19483400-19483800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr17:19483400-19483800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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