Variant report

Variant	rs74018306
Chromosome Location	chr16:31265247-31265248
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	chr16:31260386..31262455-chr16:31263713..31265453,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1423935	1.00[AMR][1000 genomes]
rs74015512	1.00[AMR][1000 genomes]
rs74018304	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74018305	1.00[AMR][1000 genomes]
rs74018313	1.00[AMR][1000 genomes]
rs8048937	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
2	nsv1066073	chr16:31219071-31278572	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31262800-31271800	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr16:31263000-31271000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr16:31263400-31268400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr16:31264200-31265400	Enhancers	Fetal Intestine Large	intestine
5	chr16:31264200-31265600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr16:31264200-31268200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr16:31264400-31265400	Enhancers	Duodenum Mucosa	Duodenum
8	chr16:31264400-31265400	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr16:31264400-31265400	Enhancers	Fetal Intestine Small	intestine
10	chr16:31264400-31265600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr16:31264400-31266600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr16:31264600-31265400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr16:31264600-31266200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr16:31264800-31265600	Enhancers	HepG2	liver
15	chr16:31264800-31265800	Enhancers	Primary B cells from peripheral blood	blood
16	chr16:31265000-31265400	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr16:31265000-31265400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr16:31265000-31265400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr16:31265000-31265400	Flanking Active TSS	K562	blood
20	chr16:31265000-31265600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr16:31265000-31265600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr16:31265000-31265600	Flanking Active TSS	A549	lung
23	chr16:31265000-31265600	Enhancers	GM12878-XiMat	blood
24	chr16:31265000-31265600	Enhancers	NHEK	skin
25	chr16:31265200-31265400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr16:31265200-31265400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr16:31265200-31265400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr16:31265200-31265400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr16:31265200-31265400	Enhancers	Spleen	Spleen
30	chr16:31265200-31265600	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr16:31265200-31265600	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr16:31265200-31265600	Enhancers	Hela-S3	cervix
33	chr16:31265200-31265800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr16:31265200-31270600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr16:31265200-31271400	Weak transcription	Right Atrium	heart
36	chr16:31265200-31271600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr16:31265200-31276600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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