Variant report

Variant	rs6745784
Chromosome Location	chr2:100516906-100516907
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100511940..100515232-chr2:100515951..100517611,3	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11891106	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13400704	1.00[AMR][1000 genomes]
rs13429281	1.00[AMR][1000 genomes]
rs17022905	1.00[AMR][1000 genomes]
rs17022916	1.00[AMR][1000 genomes]
rs6734477	1.00[AMR][1000 genomes]
rs7583182	1.00[AMR][1000 genomes]
rs7586717	1.00[AMR][1000 genomes]
rs7601715	1.00[AMR][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	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2757820	chr2:100380891-100546675	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv2759078	chr2:100380891-100546675	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1003114	chr2:100480432-100601586	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100499200-100533400	Weak transcription	Aorta	Aorta
2	chr2:100503800-100523200	Weak transcription	Thymus	Thymus
3	chr2:100506600-100517800	Strong transcription	Primary B cells from peripheral blood	blood
4	chr2:100507600-100517000	Weak transcription	Primary T cells from cord blood	blood
5	chr2:100508200-100520400	Weak transcription	Fetal Kidney	kidney
6	chr2:100509200-100519200	Strong transcription	Primary B cells from cord blood	blood
7	chr2:100510600-100517000	Weak transcription	Fetal Heart	heart
8	chr2:100514800-100517600	Enhancers	Pancreas	Pancrea
9	chr2:100515000-100517000	Weak transcription	Left Ventricle	heart
10	chr2:100515400-100521200	Weak transcription	Lung	lung
11	chr2:100515600-100517000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:100515600-100518200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:100515600-100521400	Weak transcription	Spleen	Spleen
14	chr2:100515600-100537800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr2:100515800-100517600	Enhancers	Liver	Liver
16	chr2:100516200-100518200	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr2:100516600-100517800	Enhancers	Brain Germinal Matrix	brain
18	chr2:100516600-100518200	Enhancers	Fetal Muscle Leg	muscle
19	chr2:100516800-100517200	Enhancers	Fetal Muscle Trunk	muscle
20	chr2:100516800-100517200	Enhancers	Right Ventricle	heart
21	chr2:100516800-100517600	Enhancers	Psoas Muscle	Psoas
22	chr2:100516800-100517800	Enhancers	Fetal Brain Female	brain
23	chr2:100516800-100518200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr2:100516800-100518200	Enhancers	HSMMtube	muscle

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