Variant report

Variant	rs4593541
Chromosome Location	chr8:9449112-9449113
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9436374..9438118-chr8:9448298..9450020,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10087432	1.00[AMR][1000 genomes]
rs10092117	1.00[AMR][1000 genomes]
rs10216350	1.00[AMR][1000 genomes]
rs28672952	1.00[AMR][1000 genomes]
rs4323472	1.00[AMR][1000 genomes]
rs4418342	1.00[AMR][1000 genomes]
rs4606065	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4613996	0.91[AFR][1000 genomes]
rs4840435	1.00[AMR][1000 genomes]
rs6601360	1.00[AMR][1000 genomes]
rs6990558	1.00[AMR][1000 genomes]
rs7014591	1.00[AMR][1000 genomes]
rs73535847	0.86[AFR][1000 genomes]
rs73537913	0.84[AFR][1000 genomes]
rs7846490	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	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer 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 miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv981863	chr8:9446521-9455100	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9414400-9459600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:9417200-9450000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr8:9427400-9450000	Weak transcription	Thymus	Thymus
4	chr8:9428200-9466200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:9428400-9450000	Weak transcription	Psoas Muscle	Psoas
6	chr8:9429000-9450000	Weak transcription	Fetal Kidney	kidney
7	chr8:9430200-9449800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:9431000-9449400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr8:9431000-9450000	Weak transcription	Colon Smooth Muscle	Colon
10	chr8:9433600-9461000	Weak transcription	Fetal Stomach	stomach
11	chr8:9434800-9459000	Weak transcription	Primary B cells from cord blood	blood
12	chr8:9435400-9449800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr8:9435400-9465600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:9435400-9468400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:9435600-9449600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr8:9435600-9450000	Weak transcription	Small Intestine	intestine
17	chr8:9435600-9457600	Weak transcription	Fetal Muscle Leg	muscle
18	chr8:9435600-9472400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:9435800-9449600	Weak transcription	Stomach Mucosa	stomach
20	chr8:9435800-9459400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:9435800-9465400	Weak transcription	Lung	lung
22	chr8:9435800-9465600	Weak transcription	Pancreas	Pancrea
23	chr8:9435800-9472600	Weak transcription	HSMMtube	muscle
24	chr8:9436000-9449600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:9437400-9449200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr8:9437400-9468000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr8:9438000-9450000	Weak transcription	K562	blood
28	chr8:9439200-9449400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr8:9439200-9450000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr8:9439200-9450000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr8:9439400-9472400	Weak transcription	HSMM	muscle
32	chr8:9439600-9450000	Weak transcription	Adipose Nuclei	Adipose
33	chr8:9439600-9450600	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr8:9439600-9465600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr8:9439800-9449600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr8:9440400-9454800	Weak transcription	GM12878-XiMat	blood
37	chr8:9440600-9465600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr8:9440800-9450000	Weak transcription	Primary B cells from peripheral blood	blood
39	chr8:9441200-9460600	Weak transcription	Fetal Intestine Large	intestine
40	chr8:9442200-9449600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr8:9442600-9449800	Weak transcription	NHDF-Ad	bronchial
42	chr8:9442600-9450000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr8:9442600-9465400	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr8:9442800-9449800	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr8:9443200-9449800	Weak transcription	Primary T cells from cord blood	blood
46	chr8:9445000-9449200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr8:9445400-9450000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:9445400-9459800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:9446400-9451000	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr8:9446800-9450800	Enhancers	Brain Hippocampus Middle	brain

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