Variant report

Variant	rs17453752
Chromosome Location	chr2:9766171-9766172
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9765382..9767030-chr2:9832292..9834143,2	K562	blood:
2	chr2:9694403..9696782-chr2:9766048..9768142,2	K562	blood:
3	chr2:9765530..9767539-chr2:9832292..9835222,2	K562	blood:

Variant related genes	Relation type
ENSG00000271855	Chromatin interaction
ENSG00000151694	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10495571	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10495572	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10495573	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11676903	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11692112	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11694314	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867083	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17362734	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17362839	0.95[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17362902	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17453675	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17453724	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55883249	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56372340	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57234614	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57407838	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60319753	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60726087	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119391	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119392	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119393	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119422	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119423	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119428	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62119429	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62119431	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62119432	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62119433	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv580915	chr2:9308148-9844178	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1011802	chr2:9766171-9808284	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17453752	ADAM17	cis	parietal	SCAN
rs17453752	IAH1	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9696800-9767600	Weak transcription	Gastric	stomach
2	chr2:9744800-9766800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:9748600-9766600	Weak transcription	Aorta	Aorta
4	chr2:9748600-9767600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:9749000-9769200	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:9749200-9768000	Weak transcription	Stomach Mucosa	stomach
7	chr2:9749600-9768200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:9752200-9768200	Weak transcription	Colonic Mucosa	Colon
9	chr2:9753000-9767000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:9753200-9767000	Weak transcription	Spleen	Spleen
11	chr2:9754000-9767200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr2:9754200-9767600	Weak transcription	Esophagus	oesophagus
13	chr2:9754200-9768800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:9756200-9767800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:9756400-9767200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:9757800-9767400	Weak transcription	Placenta	Placenta
17	chr2:9758000-9767000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:9758000-9769400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:9758800-9767000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:9759000-9767000	Weak transcription	NHLF	lung
21	chr2:9760200-9767200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:9760400-9767000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr2:9760400-9767000	Strong transcription	HSMM	muscle
24	chr2:9760400-9768000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:9760800-9767600	Strong transcription	Fetal Thymus	thymus
26	chr2:9761000-9767600	Weak transcription	HSMMtube	muscle
27	chr2:9761200-9767200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr2:9761400-9766200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:9761400-9767000	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr2:9761600-9768800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr2:9761800-9769400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:9762000-9766400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:9762400-9767000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr2:9762400-9767000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:9762600-9767400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr2:9762800-9767000	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr2:9762800-9767000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:9763000-9767200	Strong transcription	Osteobl	bone
39	chr2:9763000-9768600	Genic enhancers	HepG2	liver
40	chr2:9763200-9766200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:9763200-9766400	Strong transcription	Fetal Muscle Leg	muscle
42	chr2:9763200-9767000	Enhancers	Ovary	ovary
43	chr2:9763400-9767000	Weak transcription	K562	blood
44	chr2:9763600-9766400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr2:9763600-9766800	Weak transcription	Adipose Nuclei	Adipose
46	chr2:9763600-9767000	Weak transcription	Left Ventricle	heart
47	chr2:9763600-9767200	Weak transcription	Primary B cells from cord blood	blood
48	chr2:9763600-9767400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr2:9763800-9767400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:9764200-9767600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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