Variant report

Variant	rs73541224
Chromosome Location	chr8:10872386-10872387
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:10867872..10870530-chr8:10872109..10874885,2	K562	blood:
2	chr8:10861649..10864572-chr8:10871901..10875246,3	K562	blood:
3	chr8:10865711..10867297-chr8:10870824..10872479,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10095695	1.00[AMR][1000 genomes]
rs10095840	1.00[AMR][1000 genomes]
rs10096326	1.00[AMR][1000 genomes]
rs10097387	1.00[AMR][1000 genomes]
rs10100837	1.00[AMR][1000 genomes]
rs10103361	1.00[AMR][1000 genomes]
rs10106007	1.00[AMR][1000 genomes]
rs10106157	1.00[AMR][1000 genomes]
rs10106838	1.00[AMR][1000 genomes]
rs10107951	1.00[AMR][1000 genomes]
rs10109455	1.00[AMR][1000 genomes]
rs10109542	1.00[AMR][1000 genomes]
rs10481453	1.00[AMR][1000 genomes]
rs17152810	1.00[AMR][1000 genomes]
rs17152846	1.00[AMR][1000 genomes]
rs17152847	1.00[AMR][1000 genomes]
rs17152852	1.00[AMR][1000 genomes]
rs17152856	1.00[AMR][1000 genomes]
rs28398187	1.00[AMR][1000 genomes]
rs28530758	1.00[AMR][1000 genomes]
rs28588681	1.00[AMR][1000 genomes]
rs28601819	1.00[AMR][1000 genomes]
rs4401812	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4415276	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56387861	1.00[AMR][1000 genomes]
rs56759377	1.00[AMR][1000 genomes]
rs57911758	1.00[AMR][1000 genomes]
rs58893927	1.00[AMR][1000 genomes]
rs60530116	1.00[AMR][1000 genomes]
rs60859757	1.00[AMR][1000 genomes]
rs61484474	1.00[AMR][1000 genomes]
rs61524162	1.00[AMR][1000 genomes]
rs6997281	0.88[AFR][1000 genomes]
rs7010804	1.00[AMR][1000 genomes]
rs7015231	1.00[AMR][1000 genomes]
rs73539337	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73539338	0.87[AFR][1000 genomes]
rs73539361	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73539402	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73541207	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73541222	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73541225	0.95[AFR][1000 genomes]
rs73541227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73541229	0.91[AFR][1000 genomes]
rs73541254	1.00[AMR][1000 genomes]
rs73543362	1.00[AMR][1000 genomes]
rs73543365	1.00[AMR][1000 genomes]
rs73545491	1.00[AMR][1000 genomes]
rs73665013	1.00[AMR][1000 genomes]
rs7814341	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1022434	chr8:10866242-10916523	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10870400-10872400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:10870600-10872400	Weak transcription	Spleen	Spleen
3	chr8:10870800-10872400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:10870800-10872400	Weak transcription	Pancreas	Pancrea
5	chr8:10871000-10872400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr8:10871200-10872600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr8:10871200-10872600	Bivalent Enhancer	NHEK	skin
8	chr8:10871400-10872400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr8:10871400-10872400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:10871400-10872600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
11	chr8:10871400-10872600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:10871400-10872800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:10871400-10873000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:10871400-10874200	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr8:10871400-10874400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr8:10871600-10872400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:10871600-10872400	Weak transcription	HMEC	breast
18	chr8:10871600-10872600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:10871800-10874400	Active TSS	H9 Cell Line	embryonic stem cell
20	chr8:10872000-10872400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr8:10872000-10872400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:10872000-10872400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
23	chr8:10872000-10872400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr8:10872000-10872400	Enhancers	Adipose Nuclei	Adipose
25	chr8:10872000-10872400	Enhancers	Brain Anterior Caudate	brain
26	chr8:10872000-10872400	Enhancers	Esophagus	oesophagus
27	chr8:10872000-10872400	Enhancers	GM12878-XiMat	blood
28	chr8:10872000-10872600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr8:10872200-10872400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:10872200-10872400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr8:10872200-10872400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr8:10872200-10872400	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr8:10872200-10872400	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:10872200-10872400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:10872200-10872400	Enhancers	Brain Angular Gyrus	brain
36	chr8:10872200-10872400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
37	chr8:10872200-10872600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:10872200-10872600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr8:10872200-10872600	Enhancers	Primary B cells from peripheral blood	blood
40	chr8:10872200-10872600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr8:10872200-10872600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr8:10872200-10872600	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr8:10872200-10872600	Bivalent Enhancer	Thymus	Thymus
44	chr8:10872200-10872800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
45	chr8:10872200-10873000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
46	chr8:10872200-10873400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr8:10872200-10874200	Active TSS	HUES6 Cell Line	embryonic stem cell

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