Variant report

Variant	rs2930182
Chromosome Location	chr11:47971367-47971368
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	chr11:47970432..47972132-chr11:48121699..48124423,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12275829	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1228005	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1228006	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1228007	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1228014	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1228015	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2697813	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2930190	1.00[AMR][1000 genomes]
rs7101958	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv530620	chr11:47765455-48664555	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv1036992	chr11:47794621-48666024	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv897326	chr11:47891334-48035474	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1036451	chr11:47902321-48616646	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv541037	chr11:47902321-48616646	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv1047490	chr11:47916708-48388686	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1044266	chr11:47929586-48276132	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv541038	chr11:47929586-48276132	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv1053145	chr11:47967902-48086950	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47950800-47971800	Weak transcription	Fetal Thymus	thymus
2	chr11:47960000-47972400	Weak transcription	Lung	lung
3	chr11:47964000-47972200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr11:47966200-47972200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:47966600-47972000	Weak transcription	Dnd41	blood
6	chr11:47967400-47973200	Enhancers	Primary B cells from cord blood	blood
7	chr11:47967400-47974000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr11:47967600-47971400	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr11:47968400-47973000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:47968400-47973200	Enhancers	Primary B cells from peripheral blood	blood
11	chr11:47968800-47975200	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr11:47969000-47973000	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr11:47969200-47972000	Weak transcription	Placenta	Placenta
14	chr11:47969600-47972600	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr11:47969800-47972000	Enhancers	Primary T cells from cord blood	blood
16	chr11:47969800-47972600	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr11:47969800-47973200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr11:47970000-47971800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:47970000-47971800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr11:47970000-47972000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:47970000-47972000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:47970000-47972200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:47970000-47972200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:47970000-47972200	Weak transcription	Right Ventricle	heart
25	chr11:47970000-47972200	Weak transcription	NH-A	brain
26	chr11:47970000-47972400	Weak transcription	Spleen	Spleen
27	chr11:47970000-47972800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr11:47970200-47971800	Enhancers	Primary T cells fromperipheralblood	blood
29	chr11:47970200-47972600	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr11:47970200-47972600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr11:47970400-47972000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:47970400-47972600	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr11:47970600-47972000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:47970600-47972000	Weak transcription	Osteobl	bone
35	chr11:47970600-47972200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr11:47970800-47971400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr11:47970800-47971400	Enhancers	GM12878-XiMat	blood
38	chr11:47970800-47972200	Weak transcription	Hela-S3	cervix
39	chr11:47970800-47976800	Weak transcription	K562	blood
40	chr11:47970800-47989200	Weak transcription	A549	lung
41	chr11:47971200-47971400	Weak transcription	Right Atrium	heart
42	chr11:47971200-47971600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr11:47971200-47971800	Weak transcription	Primary hematopoietic stem cells	blood
44	chr11:47971200-47972400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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