Variant report

Variant	rs57552216
Chromosome Location	chr9:14658037-14658038
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:14655200..14658177-chr9:14659364..14661546,3	K562	blood:
2	chr9:14655200..14658776-chr9:14658922..14661546,4	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17215754	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17216147	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17287927	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4457430	0.86[EUR][1000 genomes]
rs4741418	0.82[EUR][1000 genomes]
rs58351851	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60001745	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60201601	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62535361	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62535363	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62535367	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62535368	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62535388	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62538526	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62539797	0.82[EUR][1000 genomes]
rs7859680	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv915804	chr9:14182608-14903050	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv831517	chr9:14512924-14738206	Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv613637	chr9:14524438-15011915	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv3362157	chr9:14542189-14791977	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv521363	chr9:14566406-14691897	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv892605	chr9:14585052-14709151	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv892606	chr9:14588049-14697022	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv892608	chr9:14589173-14689088	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv892609	chr9:14589173-14694302	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	esv2752921	chr9:14593749-14694372	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	esv2755661	chr9:14615367-14660700	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv892611	chr9:14635546-14676174	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv466260	chr9:14639666-14662459	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv613643	chr9:14639666-14662459	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv892612	chr9:14654900-14694302	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv526219	chr9:14657139-14663394	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv892613	chr9:14657139-14694302	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14631000-14692400	Weak transcription	HSMMtube	muscle
2	chr9:14634400-14686600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr9:14634600-14659000	Weak transcription	Fetal Stomach	stomach
4	chr9:14634600-14692400	Weak transcription	Gastric	stomach
5	chr9:14634600-14692600	Weak transcription	Aorta	Aorta
6	chr9:14635800-14659800	Weak transcription	Ovary	ovary
7	chr9:14648200-14663800	Weak transcription	Placenta	Placenta
8	chr9:14651400-14659400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr9:14652000-14687000	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr9:14652600-14658400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:14653600-14661000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr9:14653800-14687200	Weak transcription	Left Ventricle	heart
13	chr9:14654000-14663200	Weak transcription	Osteobl	bone
14	chr9:14654200-14686200	Weak transcription	Fetal Brain Male	brain
15	chr9:14654200-14692600	Weak transcription	Pancreas	Pancrea
16	chr9:14655000-14686800	Weak transcription	Psoas Muscle	Psoas
17	chr9:14655200-14679000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr9:14655200-14690600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr9:14655400-14659600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr9:14655400-14660400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr9:14655400-14662400	Weak transcription	Brain Hippocampus Middle	brain
22	chr9:14655400-14662800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr9:14655400-14670000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr9:14655400-14670600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr9:14655400-14671000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr9:14655400-14681400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr9:14655400-14681600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr9:14655400-14689200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr9:14655400-14690600	Weak transcription	Brain Angular Gyrus	brain
30	chr9:14655400-14690600	Weak transcription	Fetal Kidney	kidney
31	chr9:14655400-14691000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr9:14655400-14691400	Weak transcription	A549	lung
33	chr9:14655400-14692200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr9:14655600-14658200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr9:14655600-14663000	Weak transcription	Brain Germinal Matrix	brain
36	chr9:14655600-14670000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr9:14655600-14671400	Weak transcription	HSMM	muscle
38	chr9:14655600-14680800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr9:14655600-14686200	Weak transcription	Brain Anterior Caudate	brain
40	chr9:14655600-14686600	Weak transcription	NHDF-Ad	bronchial
41	chr9:14655600-14688200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr9:14655600-14692200	Weak transcription	Fetal Lung	lung
43	chr9:14655800-14658600	Weak transcription	Fetal Muscle Leg	muscle
44	chr9:14655800-14660000	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr9:14655800-14663800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr9:14655800-14686200	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr9:14655800-14686200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr9:14655800-14686800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr9:14655800-14686800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr9:14655800-14687200	Weak transcription	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links