Variant report

Variant	rs73293503
Chromosome Location	chr17:38117148-38117149
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	BHLHE40	chr17:38117022-38117195	HepG2	liver:	n/a	n/a
2	ARID3A	chr17:38117000-38117283	HepG2	liver:	n/a	n/a
3	FOXA1	chr17:38117032-38117391	HepG2	liver:	n/a	chr17:38117167-38117182
4	TCF7L2	chr17:38116979-38117263	MCF-7	breast:	n/a	chr17:38117132-38117146 chr17:38117133-38117147 chr17:38117135-38117144
5	FOXA1	chr17:38116935-38117401	HepG2	liver:	n/a	chr17:38117167-38117182
6	FOXA1	chr17:38116933-38117375	HepG2	liver:	n/a	chr17:38117167-38117182
7	FOXA1	chr17:38116984-38117408	HepG2	liver:	n/a	chr17:38117167-38117182
8	FOXA2	chr17:38116961-38117315	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:38115382..38118666-chr17:38135839..38138620,4	MCF-7	breast:
2	chr17:38109945..38111451-chr17:38115405..38117518,2	K562	blood:
3	chr17:38108595..38111573-chr17:38115257..38117518,3	K562	blood:
4	chr17:38115298..38120283-chr17:38120619..38125449,6	K562	blood:

Variant related genes	Relation type
GSDMA	TF binding region
ENSG00000167914	Chromatin interaction
ENSG00000108344	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs2227320	1.00[AMR][1000 genomes]
rs2227327	1.00[AMR][1000 genomes]
rs2227328	1.00[AMR][1000 genomes]
rs57554435	1.00[AMR][1000 genomes]
rs57870574	1.00[AMR][1000 genomes]
rs58089096	1.00[AMR][1000 genomes]
rs58951919	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59309776	1.00[AMR][1000 genomes]
rs61225269	1.00[AMR][1000 genomes]
rs73295294	1.00[AMR][1000 genomes]
rs73297220	1.00[AMR][1000 genomes]
rs73301225	1.00[AMR][1000 genomes]
rs73301229	1.00[AMR][1000 genomes]
rs73301234	1.00[AMR][1000 genomes]
rs73301238	1.00[AMR][1000 genomes]
rs73302168	1.00[AMR][1000 genomes]
rs73305019	1.00[AMR][1000 genomes]
rs73307966	1.00[AMR][1000 genomes]
rs73309981	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	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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38110000-38118800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr17:38110200-38118600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr17:38110200-38118600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr17:38110800-38128800	Weak transcription	Gastric	stomach
5	chr17:38111400-38117400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr17:38111600-38126800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr17:38115600-38118200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr17:38115600-38118400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr17:38115600-38118400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr17:38115600-38118600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr17:38115600-38118800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr17:38115600-38118800	Weak transcription	HMEC	breast
13	chr17:38115600-38118800	Weak transcription	NHEK	skin
14	chr17:38115600-38119000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr17:38115600-38125000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr17:38115800-38117600	Weak transcription	Fetal Intestine Large	intestine
17	chr17:38115800-38118200	Weak transcription	Fetal Thymus	thymus
18	chr17:38115800-38118400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr17:38115800-38118400	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr17:38115800-38118400	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr17:38115800-38118400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr17:38115800-38118800	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr17:38115800-38118800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr17:38115800-38118800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr17:38115800-38119000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr17:38115800-38121000	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr17:38115800-38123000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr17:38116200-38120200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr17:38116200-38123400	Weak transcription	Primary B cells from cord blood	blood
30	chr17:38116400-38117600	Enhancers	Stomach Mucosa	stomach
31	chr17:38116600-38117200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr17:38116600-38117200	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr17:38116600-38117200	Flanking Bivalent TSS/Enh	HepG2	liver
34	chr17:38116600-38117600	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr17:38116600-38117800	Enhancers	Fetal Intestine Small	intestine
36	chr17:38116800-38117200	Bivalent Enhancer	NHDF-Ad	bronchial
37	chr17:38116800-38119000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr17:38116800-38119000	Weak transcription	Colonic Mucosa	Colon

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