Variant report

Variant	rs16918892
Chromosome Location	chr9:102850865-102850866
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:102848064..102853071-chr9:102854113..102861263,11	K562	blood:
2	chr9:102845337..102851064-chr9:102859939..102862983,5	MCF-7	breast:
3	chr9:102850799..102852427-chr9:102859773..102862172,3	MCF-7	breast:
4	chr9:102848437..102852539-chr9:102852964..102856114,6	MCF-7	breast:
5	chr9:102841884..102844099-chr9:102848697..102851610,2	K562	blood:
6	chr9:102850735..102852344-chr9:102853762..102856007,2	MCF-7	breast:
7	chr9:102848663..102851560-chr9:102857671..102859927,2	K562	blood:
8	chr9:102849726..102852110-chr9:102854113..102855931,2	K562	blood:
9	chr9:102847010..102849181-chr9:102850800..102853345,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000023318	Chromatin interaction
ENSG00000119509	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12684341	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16918878	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1881752	0.81[ASN][1000 genomes]
rs2209081	0.83[EUR][1000 genomes]
rs2787398	0.80[ASN][1000 genomes]
rs72731378	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529618	chr9:102227922-103044018	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv531599	chr9:102227922-103156864	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv893623	chr9:102648036-103405197	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv1048674	chr9:102752236-103038259	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1052007	chr9:102766948-103033937	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16918892	STX17	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102800000-102860200	Weak transcription	Esophagus	oesophagus
2	chr9:102825800-102858200	Weak transcription	Fetal Intestine Small	intestine
3	chr9:102836000-102859000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr9:102837000-102859600	Weak transcription	Brain Anterior Caudate	brain
5	chr9:102837200-102860200	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr9:102838800-102852200	Weak transcription	Adipose Nuclei	Adipose
7	chr9:102839600-102860000	Weak transcription	Fetal Stomach	stomach
8	chr9:102839800-102860200	Weak transcription	Right Atrium	heart
9	chr9:102840600-102855600	Weak transcription	Lung	lung
10	chr9:102842200-102855600	Weak transcription	Gastric	stomach
11	chr9:102842400-102851600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr9:102842600-102851400	Weak transcription	Psoas Muscle	Psoas
13	chr9:102843200-102851800	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr9:102844000-102851200	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr9:102844000-102851400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr9:102844800-102851600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr9:102846000-102858400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr9:102846000-102860000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr9:102846200-102852400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr9:102846200-102855600	Weak transcription	Right Ventricle	heart
21	chr9:102846400-102856000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr9:102846400-102859600	Weak transcription	NHLF	lung
23	chr9:102846400-102860000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr9:102846600-102860000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr9:102846600-102860200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr9:102847200-102859800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr9:102847200-102860000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr9:102847400-102856800	Weak transcription	Small Intestine	intestine
29	chr9:102847600-102851000	Enhancers	Primary B cells from peripheral blood	blood
30	chr9:102848600-102851000	Enhancers	Primary T cells from cord blood	blood
31	chr9:102848800-102851000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr9:102849000-102851000	Enhancers	Primary hematopoietic stem cells	blood
33	chr9:102849000-102858800	Weak transcription	Hela-S3	cervix
34	chr9:102849200-102858400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr9:102849400-102851600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr9:102849600-102851600	Enhancers	NHEK	skin
37	chr9:102849800-102851400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr9:102849800-102851400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr9:102849800-102851600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr9:102849800-102851600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr9:102849800-102852200	Weak transcription	Fetal Lung	lung
42	chr9:102849800-102859200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr9:102850000-102851600	Weak transcription	Stomach Mucosa	stomach
44	chr9:102850000-102851600	Enhancers	GM12878-XiMat	blood
45	chr9:102850000-102852400	Weak transcription	Osteobl	bone
46	chr9:102850000-102854400	Weak transcription	Liver	Liver
47	chr9:102850000-102856000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr9:102850400-102851000	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr9:102850400-102851000	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr9:102850400-102856200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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