Variant report

Variant	rs17546879
Chromosome Location	chr7:50744908-50744909
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	chr7:50723989..50725501-chr7:50744305..50746937,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10486758	0.88[CEU][hapmap];0.88[CHB][hapmap];0.87[CHD][hapmap];0.96[GIH][hapmap];0.90[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12538863	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17152083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17449280	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17450294	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17544866	1.00[JPT][hapmap]
rs17547506	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17547664	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17547986	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17548938	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2237482	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2286155	0.86[CHB][hapmap];0.87[CHD][hapmap];0.96[GIH][hapmap];0.86[ASN][1000 genomes]
rs41430449	0.88[GIH][hapmap]
rs4245558	0.88[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4947816	0.87[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4947832	0.90[ASN][1000 genomes]
rs4947834	0.86[ASN][1000 genomes]
rs4947844	0.86[ASN][1000 genomes]
rs4947854	0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs56037477	0.80[ASN][1000 genomes]
rs56118724	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56200772	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58198279	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60767324	0.87[EUR][1000 genomes]
rs61250449	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73113830	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73113860	0.86[ASN][1000 genomes]
rs73113863	0.86[ASN][1000 genomes]
rs73116822	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73116823	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73116829	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73116888	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73116890	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73116898	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73118808	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73118814	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73118816	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73118830	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73118836	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73118841	0.90[ASN][1000 genomes]
rs73122773	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73122790	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73122793	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73122798	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73124705	0.90[ASN][1000 genomes]
rs73124711	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73124720	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs757771	0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs757998	1.00[CEU][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7791286	0.86[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv1031138	chr7:50651793-50814881	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50707200-50748600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:50710000-50758200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:50730200-50748600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:50731800-50750000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr7:50732600-50749200	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr7:50734200-50748800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr7:50735800-50745000	Weak transcription	Stomach Mucosa	stomach
8	chr7:50736600-50755200	Weak transcription	NHDF-Ad	bronchial
9	chr7:50738800-50765400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr7:50739000-50746400	Weak transcription	Ovary	ovary
11	chr7:50741000-50746000	Weak transcription	Thymus	Thymus
12	chr7:50742000-50745800	Enhancers	Fetal Brain Male	brain
13	chr7:50742000-50753000	Weak transcription	Osteobl	bone
14	chr7:50742200-50745400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:50742200-50746400	Weak transcription	HSMMtube	muscle
16	chr7:50742200-50748200	Enhancers	Brain Anterior Caudate	brain
17	chr7:50742200-50749400	Weak transcription	Placenta	Placenta
18	chr7:50742200-50749400	Enhancers	Rectal Smooth Muscle	rectum
19	chr7:50742200-50749800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr7:50742200-50758200	Weak transcription	Brain Germinal Matrix	brain
21	chr7:50742200-50765200	Weak transcription	NHLF	lung
22	chr7:50742400-50746800	Weak transcription	A549	lung
23	chr7:50742400-50747000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr7:50742400-50747400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr7:50742400-50747600	Enhancers	Brain Substantia Nigra	brain
26	chr7:50742400-50753600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:50742400-50755000	Weak transcription	Esophagus	oesophagus
28	chr7:50742400-50755000	Weak transcription	NH-A	brain
29	chr7:50742400-50755200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr7:50742600-50745600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr7:50742600-50745600	Enhancers	Right Atrium	heart
32	chr7:50742600-50745800	Enhancers	Brain Cingulate Gyrus	brain
33	chr7:50742600-50746000	Enhancers	Psoas Muscle	Psoas
34	chr7:50742600-50746200	Enhancers	Colon Smooth Muscle	Colon
35	chr7:50742600-50747400	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr7:50742600-50748800	Weak transcription	Fetal Lung	lung
37	chr7:50742600-50749000	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr7:50742600-50749000	Weak transcription	HUVEC	blood vessel
39	chr7:50742600-50749200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr7:50742600-50749400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr7:50742600-50757000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr7:50742600-50762200	Weak transcription	Hela-S3	cervix
43	chr7:50742600-50763000	Weak transcription	HSMM	muscle
44	chr7:50742600-50792000	Weak transcription	Primary T cells from cord blood	blood
45	chr7:50742800-50745200	Enhancers	Lung	lung
46	chr7:50742800-50745200	Enhancers	Stomach Smooth Muscle	stomach
47	chr7:50742800-50745600	Enhancers	Left Ventricle	heart
48	chr7:50742800-50745800	Enhancers	Fetal Heart	heart
49	chr7:50742800-50746000	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr7:50742800-50747400	Enhancers	Brain Angular Gyrus	brain

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