Variant report

Variant	rs73985227
Chromosome Location	chr17:38077690-38077691
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr17:38077542-38077934	GM12878	blood:	n/a	n/a
2	POLR2A	chr17:38077662-38078147	GM12891	blood:	n/a	n/a
3	POLR2A	chr17:38076211-38078398	GM12878	blood:	n/a	n/a
4	PML	chr17:38076716-38077920	GM12878	blood:	n/a	n/a
5	POLR2A	chr17:38076917-38078255	K562	blood:	n/a	n/a
6	POLR2A	chr17:38077542-38078057	HepG2	liver:	n/a	n/a
7	MAX	chr17:38077520-38077969	NB4	blood:	n/a	chr17:38077706-38077716
8	POLR2A	chr17:38076141-38078642	HepG2	liver:	n/a	n/a
9	MTA3	chr17:38076294-38078220	GM12878	blood:	n/a	n/a
10	POLR2A	chr17:38077525-38077729	K562	blood:	n/a	n/a
11	POLR2A	chr17:38077428-38077782	GM12892	blood:	n/a	n/a
12	ELF1	chr17:38077426-38077907	GM12878	blood:	n/a	n/a
13	HEY1	chr17:38076113-38078575	HepG2	liver:	n/a	n/a
14	EBF1	chr17:38077468-38077972	GM12878	blood:	n/a	n/a
15	RUNX3	chr17:38077523-38078079	GM12878	blood:	n/a	n/a
16	POLR2A	chr17:38077545-38077860	GM12878	blood:	n/a	n/a
17	POLR2A	chr17:38077456-38077835	GM12891	blood:	n/a	n/a
18	CHD2	chr17:38077605-38077726	HepG2	liver:	n/a	n/a
19	POLR2A	chr17:38077260-38078488	HepG2	liver:	n/a	n/a
20	EBF1	chr17:38077582-38077969	GM12878	blood:	n/a	n/a
21	POLR2A	chr17:38077360-38077728	HepG2	liver:	n/a	n/a
22	RUNX3	chr17:38077510-38078017	GM12878	blood:	n/a	n/a
23	POLR2A	chr17:38076211-38078024	GM12892	blood:	n/a	n/a
24	POLR2A	chr17:38077416-38077929	GM12892	blood:	n/a	n/a
25	STAT1	chr17:38077591-38078026	GM12878	blood:	n/a	n/a
26	MYC	chr17:38077539-38077908	NB4	blood:	n/a	chr17:38077706-38077716
27	POLR2A	chr17:38077671-38078048	HepG2	liver:	n/a	n/a
28	POLR2A	chr17:38077520-38077901	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:38073305..38078163-chr17:38135913..38140017,5	K562	blood:
2	chr17:38073305..38078633-chr17:38135671..38140017,6	K562	blood:

No data

Variant related genes	Relation type
GSDMB	TF binding region
ENSG00000108344	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1453558	1.00[EUR][1000 genomes]
rs16965388	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28623237	1.00[EUR][1000 genomes]
rs59246468	1.00[EUR][1000 genomes]
rs73985216	0.85[AMR][1000 genomes]
rs73985217	0.85[AMR][1000 genomes]
rs73985221	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73985222	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73985223	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73985224	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73985226	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73985229	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73985230	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8071135	0.87[AMR][1000 genomes];1.00[EUR][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	nsv492308	chr17:38033039-38204458	Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38058200-38077800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr17:38059000-38082400	Weak transcription	Psoas Muscle	Psoas
3	chr17:38060400-38081600	Weak transcription	Fetal Brain Male	brain
4	chr17:38061800-38081000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr17:38062800-38078200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr17:38066600-38078000	Weak transcription	Fetal Heart	heart
7	chr17:38072800-38080000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr17:38073000-38078400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr17:38073000-38079600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr17:38073000-38080000	Strong transcription	Osteobl	bone
11	chr17:38073200-38079200	Strong transcription	Fetal Muscle Leg	muscle
12	chr17:38073200-38080200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr17:38073800-38078800	Weak transcription	Fetal Kidney	kidney
14	chr17:38073800-38081200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr17:38074200-38080800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr17:38074200-38080800	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr17:38074200-38080800	Strong transcription	Fetal Brain Female	brain
18	chr17:38074200-38081000	Genic enhancers	Fetal Thymus	thymus
19	chr17:38074400-38080400	Strong transcription	Brain Inferior Temporal Lobe	brain
20	chr17:38074400-38080400	Strong transcription	Skeletal Muscle Male	skeletal muscle
21	chr17:38074400-38080800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr17:38074400-38080800	Weak transcription	Small Intestine	intestine
23	chr17:38074400-38082200	Genic enhancers	Placenta	Placenta
24	chr17:38074400-38082400	Weak transcription	Hela-S3	cervix
25	chr17:38074600-38080200	Strong transcription	Left Ventricle	heart
26	chr17:38074800-38080200	Strong transcription	Fetal Stomach	stomach
27	chr17:38075000-38081200	Strong transcription	Brain Germinal Matrix	brain
28	chr17:38075000-38081400	Genic enhancers	Fetal Intestine Large	intestine
29	chr17:38075200-38078600	Genic enhancers	Spleen	Spleen
30	chr17:38075200-38079800	Genic enhancers	Liver	Liver
31	chr17:38075200-38080000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr17:38075200-38080200	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr17:38075200-38080400	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr17:38075200-38080800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
35	chr17:38075200-38081000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr17:38075400-38077800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr17:38075400-38078200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr17:38075400-38078600	Weak transcription	HMEC	breast
39	chr17:38075400-38079600	Strong transcription	Right Ventricle	heart
40	chr17:38075400-38080000	Strong transcription	Lung	lung
41	chr17:38075400-38080200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr17:38075400-38080200	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr17:38075400-38080200	Strong transcription	Stomach Smooth Muscle	stomach
44	chr17:38075400-38080200	Strong transcription	NHLF	lung
45	chr17:38075400-38080400	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr17:38075400-38080400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
47	chr17:38075400-38080400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr17:38075400-38080400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr17:38075400-38080400	Genic enhancers	Adipose Nuclei	Adipose
50	chr17:38075400-38080400	Strong transcription	Brain Substantia Nigra	brain

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