Variant report

Variant	rs17414871
Chromosome Location	chr18:9323753-9323754
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9315114..9319116-chr18:9321910..9324742,4	K562	blood:
2	chr18:9321590..9323951-chr18:9334046..9336771,2	K562	blood:
3	chr18:9321590..9324393-chr18:9335176..9336771,2	K562	blood:

Variant related genes	Relation type
ENSG00000264964	Chromatin interaction
ENSG00000128791	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10163536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10164138	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10438889	0.84[EUR][1000 genomes]
rs10502391	1.00[YRI][hapmap]
rs1107146	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1107147	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13381849	0.87[YRI][hapmap]
rs1443597	1.00[YRI][hapmap]
rs17498752	0.88[YRI][hapmap]
rs17498969	1.00[YRI][hapmap]
rs17499116	1.00[YRI][hapmap]
rs2298548	1.00[YRI][hapmap]
rs28623301	0.82[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs2864527	1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs28687517	0.97[EUR][1000 genomes]
rs2902783	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs5011606	1.00[YRI][hapmap]
rs57292829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58487677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61257061	0.82[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs7230937	0.97[EUR][1000 genomes]
rs7244225	0.82[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs72939247	0.81[EUR][1000 genomes]
rs72939979	0.91[EUR][1000 genomes]
rs72943134	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs72943139	0.82[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs72943143	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs72943148	0.82[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs72943150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72943151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72943156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72943157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72943163	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72943167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72943168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72943173	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv431971	chr18:9081185-9326852	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv458023	chr18:9240413-9357786	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv576447	chr18:9240413-9357786	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1062025	chr18:9287249-9552470	Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv543643	chr18:9287249-9552470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers 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	35 gene(s)	inside rSNPs	diseases
8	nsv909365	chr18:9299538-9400422	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	esv3500936	chr18:9322852-9328450	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv3500942	chr18:9323302-9328300	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9320000-9324600	Enhancers	HUVEC	blood vessel
2	chr18:9320200-9333800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr18:9320400-9324000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr18:9320600-9333400	Weak transcription	Aorta	Aorta
5	chr18:9321000-9325800	Weak transcription	Placenta	Placenta
6	chr18:9321400-9323800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr18:9321800-9323800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr18:9321800-9333600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr18:9321800-9333600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr18:9322200-9323800	Weak transcription	NHLF	lung
11	chr18:9322800-9324800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr18:9323000-9324200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr18:9323000-9328200	Weak transcription	Fetal Lung	lung
14	chr18:9323200-9324400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr18:9323400-9324600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr18:9323400-9324800	Enhancers	HSMM	muscle
17	chr18:9323600-9324400	Enhancers	NHDF-Ad	bronchial

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