Variant report

Variant	rs6793658
Chromosome Location	chr3:143540744-143540745
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:143534241..143536547-chr3:143539436..143542162,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs16854417	1.00[ASN][1000 genomes]
rs16854421	1.00[ASN][1000 genomes]
rs16854423	1.00[ASN][1000 genomes]
rs16854424	0.98[ASN][1000 genomes]
rs16854463	0.98[ASN][1000 genomes]
rs1823220	1.00[ASN][1000 genomes]
rs2121774	0.98[ASN][1000 genomes]
rs2361199	0.82[CEU][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4839660	1.00[ASN][1000 genomes]
rs4839661	1.00[ASN][1000 genomes]
rs4839662	1.00[ASN][1000 genomes]
rs4839663	1.00[ASN][1000 genomes]
rs55904283	0.98[ASN][1000 genomes]
rs56010653	0.98[ASN][1000 genomes]
rs62268898	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6769847	0.95[ASN][1000 genomes]
rs6792031	1.00[ASN][1000 genomes]
rs6804065	1.00[ASN][1000 genomes]
rs72997316	0.98[ASN][1000 genomes]
rs72997334	0.98[ASN][1000 genomes]
rs73008747	0.81[ASN][1000 genomes]
rs7651412	1.00[ASN][1000 genomes]
rs7652644	0.98[ASN][1000 genomes]
rs9822158	1.00[ASN][1000 genomes]
rs9844917	0.85[ASN][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	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	esv3418674	chr3:143457005-143558357	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1009935	chr3:143497700-143610852	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1001076	chr3:143513526-143547076	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv536747	chr3:143513526-143547076	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143514200-143544200	Weak transcription	Primary T cells from cord blood	blood
2	chr3:143529600-143543800	Weak transcription	Stomach Mucosa	stomach
3	chr3:143530800-143540800	Weak transcription	Fetal Stomach	stomach
4	chr3:143531000-143543200	Weak transcription	NHDF-Ad	bronchial
5	chr3:143531800-143543200	Weak transcription	Aorta	Aorta
6	chr3:143533600-143543200	Weak transcription	Fetal Lung	lung
7	chr3:143533800-143543200	Weak transcription	Right Atrium	heart
8	chr3:143536000-143545200	Weak transcription	Gastric	stomach
9	chr3:143538000-143542200	Enhancers	Brain Substantia Nigra	brain
10	chr3:143538600-143542000	Enhancers	Brain Cingulate Gyrus	brain
11	chr3:143538800-143541800	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr3:143539000-143542200	Enhancers	Brain Hippocampus Middle	brain
13	chr3:143539200-143544600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr3:143539400-143541400	Enhancers	Spleen	Spleen
15	chr3:143539400-143541800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr3:143539400-143541800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:143539400-143545000	Weak transcription	Liver	Liver
18	chr3:143539600-143541200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr3:143539600-143541400	Enhancers	Primary hematopoietic stem cells	blood
20	chr3:143539600-143541800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr3:143539600-143546600	Weak transcription	Esophagus	oesophagus
22	chr3:143539600-143550000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr3:143539800-143540800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr3:143539800-143540800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr3:143539800-143541000	Enhancers	Fetal Muscle Trunk	muscle
26	chr3:143539800-143541200	Weak transcription	Psoas Muscle	Psoas
27	chr3:143539800-143541400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr3:143539800-143541400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr3:143539800-143541600	Enhancers	Primary T cells fromperipheralblood	blood
30	chr3:143539800-143541600	Enhancers	GM12878-XiMat	blood
31	chr3:143539800-143558200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr3:143540000-143541000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr3:143540000-143541800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr3:143540000-143543000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr3:143540000-143549600	Weak transcription	HSMM	muscle
36	chr3:143540200-143541000	Weak transcription	HSMMtube	muscle
37	chr3:143540200-143541200	Weak transcription	Fetal Kidney	kidney
38	chr3:143540200-143542200	Enhancers	Brain Anterior Caudate	brain
39	chr3:143540400-143541000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr3:143540400-143542600	Enhancers	Adipose Nuclei	Adipose
41	chr3:143540600-143541200	Enhancers	Brain Angular Gyrus	brain
42	chr3:143540600-143541200	Enhancers	Lung	lung
43	chr3:143540600-143541400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr3:143540600-143541400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr3:143540600-143541400	Enhancers	Placenta	Placenta
46	chr3:143540600-143541400	Enhancers	Fetal Thymus	thymus
47	chr3:143540600-143541400	Enhancers	Dnd41	blood
48	chr3:143540600-143541600	Enhancers	Primary B cells from cord blood	blood
49	chr3:143540600-143541800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr3:143540600-143542200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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