Variant report

Variant	rs17451757
Chromosome Location	chr10:45967542-45967543
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:45966219..45968342-chr10:45984924..45988561,3	K562	blood:
2	chr10:45965669..45968296-chr10:45969406..45974419,5	K562	blood:
3	chr10:45960989..45962964-chr10:45966369..45968262,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs12266963	1.00[EUR][1000 genomes]
rs12762375	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12772724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12773979	1.00[EUR][1000 genomes]
rs12774534	1.00[EUR][1000 genomes]
rs12776062	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12781248	1.00[EUR][1000 genomes]
rs12782256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12783037	1.00[EUR][1000 genomes]
rs12784527	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13134	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17157883	0.84[EUR][1000 genomes]
rs17451516	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17452587	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17523660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34028441	1.00[AMR][1000 genomes]
rs34063374	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34208634	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34349618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34371883	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34445001	1.00[EUR][1000 genomes]
rs34570485	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34640551	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34681532	1.00[AMR][1000 genomes]
rs34744856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34763590	1.00[AMR][1000 genomes]
rs34831109	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34971823	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35098689	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35124937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35468901	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35479649	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35489926	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35490739	1.00[AMR][1000 genomes]
rs35517795	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35599399	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35911307	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4073658	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71494783	1.00[EUR][1000 genomes]
rs71494784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71494801	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71496616	1.00[AMR][1000 genomes]
rs9422649	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430166	chr10:45668894-46148794	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv993428	chr10:45742877-46224333	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers 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	nsv895108	chr10:45878908-46224333	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv895109	chr10:45882741-46210665	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv1043536	chr10:45915941-46076235	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45953600-45969200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr10:45960200-45970000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr10:45960400-45968600	Enhancers	Primary hematopoietic stem cells	blood
4	chr10:45960400-45971000	Enhancers	Brain Cingulate Gyrus	brain
5	chr10:45964400-45968000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr10:45964800-45971200	Weak transcription	Fetal Brain Male	brain
7	chr10:45965200-45970800	Enhancers	Brain Substantia Nigra	brain
8	chr10:45965400-45967600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr10:45965400-45967600	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr10:45965400-45967600	Enhancers	Fetal Muscle Leg	muscle
11	chr10:45965400-45967800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr10:45965400-45967800	Enhancers	HUVEC	blood vessel
13	chr10:45965400-45969200	Enhancers	Brain Anterior Caudate	brain
14	chr10:45965400-45970400	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr10:45965600-45967600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr10:45965600-45967600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr10:45965600-45967600	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr10:45965600-45967800	Enhancers	Adipose Nuclei	Adipose
19	chr10:45965600-45967800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr10:45965600-45967800	Enhancers	Rectal Smooth Muscle	rectum
21	chr10:45965600-45967800	Enhancers	Stomach Smooth Muscle	stomach
22	chr10:45965600-45968200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr10:45965600-45968400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr10:45965600-45969400	Enhancers	Colon Smooth Muscle	Colon
25	chr10:45965600-45969600	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr10:45965600-45970000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr10:45965800-45967800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr10:45966000-45968200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr10:45966000-45969800	Enhancers	Brain Angular Gyrus	brain
30	chr10:45966200-45967600	Enhancers	Fetal Kidney	kidney
31	chr10:45966200-45968600	Weak transcription	Fetal Brain Female	brain
32	chr10:45966200-45969800	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr10:45966200-45971600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr10:45966400-45967600	Flanking Active TSS	Liver	Liver
35	chr10:45966400-45969000	Weak transcription	Primary B cells from peripheral blood	blood
36	chr10:45966400-45979800	Weak transcription	Thymus	Thymus
37	chr10:45966600-45967600	Weak transcription	Fetal Heart	heart
38	chr10:45966600-45967600	Enhancers	Fetal Stomach	stomach
39	chr10:45966600-45967600	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr10:45966600-45968200	Weak transcription	Primary B cells from cord blood	blood
41	chr10:45966800-45967600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr10:45966800-45967800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr10:45966800-45968000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr10:45966800-45968200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr10:45966800-45970400	Weak transcription	Fetal Intestine Small	intestine
46	chr10:45967000-45967600	Enhancers	Fetal Muscle Trunk	muscle
47	chr10:45967000-45967600	Enhancers	Gastric	stomach
48	chr10:45967000-45967600	Enhancers	Lung	lung
49	chr10:45967000-45967600	Enhancers	Right Atrium	heart
50	chr10:45967000-45968200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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