Variant report

Variant	rs41418945
Chromosome Location	chr3:46416236-46416237
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	chr3:46414920..46417484-chr3:47420279..47422738,2	K562	blood:
2	chr3:46414355..46417313-chr3:46422093..46423831,2	K562	blood:

Variant related genes	Relation type
ENSG00000260236	Chromatin interaction
ENSG00000076201	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs3918379	0.90[AFR][1000 genomes]
rs3918384	0.90[AFR][1000 genomes]
rs3918385	0.90[AFR][1000 genomes]
rs41403149	1.00[AMR][1000 genomes]
rs41466044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41535253	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	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3323840	chr3:46352348-46497196	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3389382	chr3:46352798-46496696	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46396000-46422000	Weak transcription	Lung	lung
2	chr3:46404400-46422200	Weak transcription	Thymus	Thymus
3	chr3:46404400-46424600	Weak transcription	Spleen	Spleen
4	chr3:46409400-46418600	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr3:46409600-46417200	Enhancers	Dnd41	blood
6	chr3:46410200-46420000	Weak transcription	Primary B cells from cord blood	blood
7	chr3:46411400-46416800	Weak transcription	Primary B cells from peripheral blood	blood
8	chr3:46411400-46422000	Weak transcription	Small Intestine	intestine
9	chr3:46412000-46416600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr3:46412600-46416600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr3:46413600-46416400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr3:46413600-46417800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr3:46413800-46418400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr3:46414000-46418400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr3:46414600-46418400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr3:46414800-46418400	Enhancers	Primary hematopoietic stem cells	blood
17	chr3:46414800-46422000	Weak transcription	Esophagus	oesophagus
18	chr3:46415000-46417200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:46415000-46418600	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr3:46415200-46418800	Enhancers	Fetal Thymus	thymus
21	chr3:46415600-46418800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr3:46415800-46417800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr3:46415800-46418000	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr3:46416000-46416800	Active TSS	Duodenum Mucosa	Duodenum
25	chr3:46416000-46418800	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr3:46416200-46416800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
27	chr3:46416200-46417400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr3:46416200-46417400	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr3:46416200-46418400	Enhancers	Primary T cells from cord blood	blood

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