Variant report

Variant	rs73985226
Chromosome Location	chr17:38076334-38076335
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFATC1	chr17:38076273-38076791	GM12878	blood:	n/a	n/a
2	POLR2A	chr17:38076211-38078398	GM12878	blood:	n/a	n/a
3	MTA3	chr17:38076218-38076809	GM12878	blood:	n/a	n/a
4	POLR2A	chr17:38076279-38077047	HepG2	liver:	n/a	n/a
5	POLR2A	chr17:38076234-38076855	GM12878	blood:	n/a	n/a
6	POLR2A	chr17:38076141-38078642	HepG2	liver:	n/a	n/a
7	MTA3	chr17:38076294-38078220	GM12878	blood:	n/a	n/a
8	POLR2A	chr17:38076202-38077236	GM12891	blood:	n/a	n/a
9	POLR2A	chr17:38076309-38076849	HepG2	liver:	n/a	n/a
10	POLR2A	chr17:38076165-38077183	HepG2	liver:	n/a	n/a
11	POLR2A	chr17:38076180-38077328	GM12892	blood:	n/a	n/a
12	HEY1	chr17:38076113-38078575	HepG2	liver:	n/a	n/a
13	STAT5A	chr17:38076178-38076941	GM12878	blood:	n/a	n/a
14	POLR2A	chr17:38076276-38076877	K562	blood:	n/a	n/a
15	POLR2A	chr17:38076235-38077223	GM12892	blood:	n/a	n/a
16	POLR2A	chr17:38076313-38076367	K562	blood:	n/a	n/a
17	POLR2A	chr17:38076311-38076860	K562	blood:	n/a	n/a
18	POLR2A	chr17:38076211-38078024	GM12892	blood:	n/a	n/a
19	POLR2A	chr17:38076314-38077124	HepG2	liver:	n/a	n/a
20	POLR2A	chr17:38076157-38077246	HepG2	liver:	n/a	n/a
21	POLR2A	chr17:38076283-38076748	GM12878	blood:	n/a	n/a
22	POLR2A	chr17:38076182-38077276	GM12891	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38073834..38076577-chr17:38077829..38081795,4	MCF-7	breast:
2	chr17:38073305..38078163-chr17:38135913..38140017,5	K562	blood:
3	chr17:38073305..38078633-chr17:38135671..38140017,6	K562	blood:

No data

Variant related genes	Relation type
GSDMB	TF binding region
ENSG00000108344	Chromatin interaction
ENSG00000172057	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1453558	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16965388	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28623237	1.00[EUR][1000 genomes]
rs59246468	1.00[EUR][1000 genomes]
rs73985216	1.00[AMR][1000 genomes]
rs73985217	1.00[AMR][1000 genomes]
rs73985219	0.85[AMR][1000 genomes]
rs73985221	1.00[EUR][1000 genomes]
rs73985222	1.00[EUR][1000 genomes]
rs73985223	1.00[EUR][1000 genomes]
rs73985224	1.00[EUR][1000 genomes]
rs73985227	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73985229	1.00[EUR][1000 genomes]
rs73985230	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8071135	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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38055600-38077400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:38057600-38076600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr17:38057800-38077600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr17:38058200-38077800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr17:38058600-38077400	Weak transcription	Colon Smooth Muscle	Colon
6	chr17:38059000-38082400	Weak transcription	Psoas Muscle	Psoas
7	chr17:38059800-38077200	Weak transcription	Esophagus	oesophagus
8	chr17:38060000-38077400	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr17:38060400-38081600	Weak transcription	Fetal Brain Male	brain
10	chr17:38061800-38081000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr17:38062800-38078200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr17:38063600-38077000	Weak transcription	Pancreas	Pancrea
13	chr17:38066600-38078000	Weak transcription	Fetal Heart	heart
14	chr17:38066800-38076600	Weak transcription	HSMMtube	muscle
15	chr17:38068600-38076400	Weak transcription	A549	lung
16	chr17:38068800-38077600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr17:38070200-38077600	Weak transcription	Ovary	ovary
18	chr17:38070600-38077000	Weak transcription	Aorta	Aorta
19	chr17:38071600-38076600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr17:38071800-38077600	Weak transcription	HUVEC	blood vessel
21	chr17:38072800-38076600	Strong transcription	Fetal Muscle Trunk	muscle
22	chr17:38072800-38080000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr17:38073000-38076800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr17:38073000-38078400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr17:38073000-38079600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr17:38073000-38080000	Strong transcription	Osteobl	bone
27	chr17:38073200-38079200	Strong transcription	Fetal Muscle Leg	muscle
28	chr17:38073200-38080200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr17:38073600-38076800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr17:38073800-38078800	Weak transcription	Fetal Kidney	kidney
31	chr17:38073800-38081200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr17:38074200-38077400	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr17:38074200-38077600	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr17:38074200-38077600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr17:38074200-38080800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr17:38074200-38080800	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr17:38074200-38080800	Strong transcription	Fetal Brain Female	brain
38	chr17:38074200-38081000	Genic enhancers	Fetal Thymus	thymus
39	chr17:38074400-38080400	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr17:38074400-38080400	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr17:38074400-38080800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr17:38074400-38080800	Weak transcription	Small Intestine	intestine
43	chr17:38074400-38082200	Genic enhancers	Placenta	Placenta
44	chr17:38074400-38082400	Weak transcription	Hela-S3	cervix
45	chr17:38074600-38076400	Strong transcription	NH-A	brain
46	chr17:38074600-38080200	Strong transcription	Left Ventricle	heart
47	chr17:38074800-38080200	Strong transcription	Fetal Stomach	stomach
48	chr17:38075000-38076400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr17:38075000-38076600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr17:38075000-38077400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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