Variant report

Variant	rs538596
Chromosome Location	chr11:104808307-104808308
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs502684	0.90[AFR][1000 genomes]
rs518128	0.90[AFR][1000 genomes]
rs542762	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56082406	0.83[AMR][1000 genomes]
rs568071	0.84[AFR][1000 genomes]
rs568640	0.88[AFR][1000 genomes]
rs572557	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs573451	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs588533	0.86[AFR][1000 genomes]
rs589417	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs590178	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs596397	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs610997	0.87[AFR][1000 genomes]
rs617114	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs624714	0.81[AFR][1000 genomes]
rs678689	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs682865	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046098	chr11:104207210-105003661	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv531430	chr11:104380924-105194452	Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv832255	chr11:104674918-104846961	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv898355	chr11:104730322-104897843	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv1040784	chr11:104763797-104855878	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv468862	chr11:104774014-105243371	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv556218	chr11:104774014-105243371	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	esv3334824	chr11:104776753-104813836	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv898356	chr11:104779195-104838471	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
10	esv3385159	chr11:104786549-105051555	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
11	nsv983232	chr11:104787454-104809055	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv1041081	chr11:104797775-104912458	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104803400-104819000	Weak transcription	Psoas Muscle	Psoas
2	chr11:104805600-104812600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr11:104805600-104813600	Weak transcription	Spleen	Spleen
4	chr11:104805600-104813600	Weak transcription	HUVEC	blood vessel
5	chr11:104805600-104814800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:104805600-104814800	Weak transcription	Fetal Thymus	thymus
7	chr11:104806200-104812800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr11:104806200-104813000	Weak transcription	Dnd41	blood
9	chr11:104806200-104814400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr11:104806200-104814800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr11:104806400-104813200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr11:104806400-104818200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr11:104806600-104813200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr11:104806600-104813800	Weak transcription	Primary B cells from cord blood	blood
15	chr11:104806800-104812800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr11:104806800-104812800	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr11:104806800-104812800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:104806800-104813000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:104806800-104813200	Weak transcription	Primary T cells from cord blood	blood
20	chr11:104806800-104813200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr11:104806800-104814000	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr11:104806800-104814000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr11:104806800-104814800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr11:104807000-104813000	Weak transcription	Primary B cells from peripheral blood	blood
25	chr11:104807000-104813800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr11:104807000-104817800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr11:104807000-104818200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr11:104807200-104818000	Weak transcription	Left Ventricle	heart

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