Variant report

Variant	rs17131909
Chromosome Location	chr7:47927649-47927650
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	chr7:47921917..47923444-chr7:47925366..47928161,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11972142	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs11975405	1.00[CEU][hapmap]
rs11978282	1.00[MEX][hapmap]
rs11981984	1.00[MEX][hapmap]
rs17131928	1.00[CEU][hapmap]
rs3176499	1.00[MEX][hapmap]
rs3176593	1.00[MEX][hapmap]
rs4292596	1.00[CEU][hapmap]
rs4292597	1.00[CEU][hapmap]
rs4294108	1.00[CEU][hapmap]
rs4427076	1.00[CEU][hapmap]
rs909060	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv830991	chr7:47854530-48025996	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv532120	chr7:47882757-48195869	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv606892	chr7:47903141-47930180	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv470221	chr7:47917495-48354363	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv464442	chr7:47917495-48354820	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv606893	chr7:47917495-48354820	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47903400-47945000	Weak transcription	Brain Angular Gyrus	brain
2	chr7:47913600-47929600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:47916400-47949000	Weak transcription	Right Ventricle	heart
4	chr7:47918200-47935200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:47924600-47928800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr7:47924800-47928400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr7:47924800-47933400	Weak transcription	Gastric	stomach
8	chr7:47925400-47928200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:47925600-47928200	Weak transcription	Placenta	Placenta
10	chr7:47925600-47946800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr7:47926400-47928400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr7:47926800-47927800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:47926800-47929400	Enhancers	Fetal Muscle Trunk	muscle
14	chr7:47927000-47928000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:47927000-47928000	Strong transcription	Adipose Nuclei	Adipose
16	chr7:47927000-47928600	Weak transcription	Pancreas	Pancrea
17	chr7:47927200-47929200	Weak transcription	Fetal Muscle Leg	muscle
18	chr7:47927200-47929200	Weak transcription	Left Ventricle	heart
19	chr7:47927400-47928000	Weak transcription	Brain Hippocampus Middle	brain
20	chr7:47927400-47928000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr7:47927400-47928400	Enhancers	Fetal Brain Female	brain
22	chr7:47927400-47945000	Weak transcription	Brain Anterior Caudate	brain
23	chr7:47927600-47928000	Weak transcription	HSMMtube	muscle

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