Variant report

Variant	rs73318727
Chromosome Location	chr10:52294435-52294436
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:52293246..52296190-chr10:52300383..52302951,2	K562	blood:
2	chr10:52291845..52294615-chr10:52303379..52304888,2	K562	blood:
3	chr10:52118184..52120411-chr10:52292971..52295430,2	K562	blood:
4	chr10:52291946..52294684-chr10:52298483..52300716,2	K562	blood:
5	chr10:52288714..52294578-chr10:52381112..52386074,5	K562	blood:
6	chr10:52287244..52289297-chr10:52294304..52296791,2	K562	blood:

Variant related genes	Relation type
ENSG00000198964	Chromatin interaction
ENSG00000226200	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11006152	1.00[EUR][1000 genomes]
rs11814231	1.00[EUR][1000 genomes]
rs12265262	1.00[AMR][1000 genomes]
rs16934269	1.00[EUR][1000 genomes]
rs16934373	1.00[EUR][1000 genomes]
rs41417550	1.00[EUR][1000 genomes]
rs58675275	1.00[EUR][1000 genomes]
rs59273165	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60757498	1.00[EUR][1000 genomes]
rs7100732	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73318725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73318732	1.00[EUR][1000 genomes]
rs73318734	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73318745	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74131296	1.00[EUR][1000 genomes]
rs7900063	1.00[EUR][1000 genomes]
rs7921654	1.00[EUR][1000 genomes]
rs7922659	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054775	chr10:51595893-52392361	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1051087	chr10:51886486-52447295	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv916214	chr10:51886486-52458983	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv918212	chr10:51886486-52465482	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv817412	chr10:51911034-52432990	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv469522	chr10:52276564-52447589	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv482564	chr10:52276564-52447589	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52271600-52300600	Weak transcription	Aorta	Aorta
2	chr10:52272600-52302800	Weak transcription	Fetal Stomach	stomach
3	chr10:52273600-52298400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr10:52273600-52299800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr10:52279400-52298200	Weak transcription	Fetal Intestine Small	intestine
6	chr10:52279600-52298400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr10:52279600-52298400	Weak transcription	Primary B cells from peripheral blood	blood
8	chr10:52279600-52298800	Weak transcription	Lung	lung
9	chr10:52279800-52298600	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr10:52280200-52328000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr10:52282800-52301200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr10:52283000-52300400	Weak transcription	Psoas Muscle	Psoas
13	chr10:52284600-52297600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr10:52286400-52304000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr10:52287400-52298200	Weak transcription	Left Ventricle	heart
16	chr10:52287600-52296800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr10:52287600-52296800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr10:52287800-52302800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr10:52288200-52298600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr10:52288600-52300000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr10:52289400-52300000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr10:52290000-52295800	Weak transcription	Brain Hippocampus Middle	brain
23	chr10:52290000-52296000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr10:52290000-52296600	Weak transcription	Brain Anterior Caudate	brain
25	chr10:52290200-52296600	Weak transcription	Brain Substantia Nigra	brain
26	chr10:52291600-52298600	Weak transcription	Pancreas	Pancrea
27	chr10:52291800-52298600	Weak transcription	Gastric	stomach
28	chr10:52292800-52296200	Weak transcription	Brain Angular Gyrus	brain
29	chr10:52293400-52296600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr10:52293600-52298600	Enhancers	K562	blood
31	chr10:52294200-52294600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr10:52294200-52294600	Enhancers	Osteobl	bone
33	chr10:52294200-52295600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr10:52294400-52294600	Enhancers	HUVEC	blood vessel
35	chr10:52294400-52294800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr10:52294400-52295200	Enhancers	Muscle Satellite Cultured Cells	--
37	chr10:52294400-52295200	Enhancers	NH-A	brain
38	chr10:52294400-52295400	Weak transcription	Right Atrium	heart

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