Variant report

Variant	rs73541227
Chromosome Location	chr8:10872938-10872939
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	chr8:10867872..10870530-chr8:10872109..10874885,2	K562	blood:
2	chr8:10861649..10864572-chr8:10871901..10875246,3	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

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]
rs73530537	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]
rs73541224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73541225	0.95[AFR][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:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10871400-10873000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:10871400-10874200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr8:10871400-10874400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr8:10871800-10874400	Active TSS	H9 Cell Line	embryonic stem cell
5	chr8:10872200-10873000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
6	chr8:10872200-10873400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr8:10872200-10874200	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr8:10872400-10873000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr8:10872400-10873000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:10872400-10873000	Active TSS	Colonic Mucosa	Colon
11	chr8:10872400-10873000	Weak transcription	Esophagus	oesophagus
12	chr8:10872400-10873000	Bivalent Enhancer	Fetal Heart	heart
13	chr8:10872400-10873000	Enhancers	Pancreas	Pancrea
14	chr8:10872400-10873000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
15	chr8:10872400-10873200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr8:10872400-10873400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:10872400-10873400	Active TSS	Primary B cells from cord blood	blood
18	chr8:10872400-10873600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:10872400-10873600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:10872400-10873600	Flanking Active TSS	GM12878-XiMat	blood
21	chr8:10872400-10874200	Active TSS	Spleen	Spleen
22	chr8:10872400-10874400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:10872400-10874400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr8:10872400-10874400	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr8:10872400-10874400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:10872400-10874400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:10872400-10874400	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr8:10872400-10874400	Active TSS	Colon Smooth Muscle	Colon
29	chr8:10872400-10874400	Active TSS	Rectal Smooth Muscle	rectum
30	chr8:10872400-10874600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:10872400-10874600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:10872400-10874600	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr8:10872400-10874600	Active TSS	Brain Angular Gyrus	brain
34	chr8:10872400-10874600	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr8:10872400-10874600	Bivalent Enhancer	Fetal Brain Male	brain
36	chr8:10872400-10874600	Active TSS	HSMMtube	muscle
37	chr8:10872600-10873000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:10872600-10873000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
39	chr8:10872600-10873000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr8:10872600-10873000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr8:10872600-10873000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:10872600-10873000	Active TSS	Duodenum Mucosa	Duodenum
43	chr8:10872600-10873200	Flanking Bivalent TSS/Enh	NHEK	skin
44	chr8:10872600-10873400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:10872600-10873400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr8:10872600-10873400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr8:10872600-10873600	Flanking Active TSS	Primary B cells from peripheral blood	blood
48	chr8:10872600-10873600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
49	chr8:10872600-10873600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr8:10872600-10873600	Active TSS	Right Atrium	heart

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