Variant report

Variant	rs28451605
Chromosome Location	chr14:68322145-68322146
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10139482	0.87[ASN][1000 genomes]
rs17515456	0.95[ASN][1000 genomes]
rs2295109	0.87[ASN][1000 genomes]
rs2295110	0.87[ASN][1000 genomes]
rs34057001	0.95[ASN][1000 genomes]
rs34706521	0.95[ASN][1000 genomes]
rs7144698	0.87[ASN][1000 genomes]
rs8005494	0.95[ASN][1000 genomes]
rs8010136	0.95[ASN][1000 genomes]
rs8015427	0.95[ASN][1000 genomes]
rs8018161	0.95[ASN][1000 genomes]
rs8018528	0.95[ASN][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	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats 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 target site	38 gene(s)	inside rSNPs	diseases
3	nsv1054697	chr14:68202004-68345982	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68300600-68336200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr14:68303200-68331800	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr14:68311400-68325800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:68313200-68324400	Weak transcription	Gastric	stomach
5	chr14:68313200-68326400	Weak transcription	Pancreas	Pancrea
6	chr14:68313200-68333400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:68313200-68333800	Weak transcription	Primary T cells from cord blood	blood
8	chr14:68313400-68322200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:68313800-68324600	Weak transcription	Esophagus	oesophagus
10	chr14:68314000-68331400	Weak transcription	Dnd41	blood
11	chr14:68317600-68324800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:68317800-68322800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr14:68318600-68334400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr14:68318800-68322800	Weak transcription	Brain Hippocampus Middle	brain
15	chr14:68319000-68327600	Weak transcription	Ovary	ovary
16	chr14:68319200-68326400	Weak transcription	Spleen	Spleen
17	chr14:68319200-68334200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr14:68320400-68324400	Weak transcription	Fetal Intestine Small	intestine
19	chr14:68320600-68322600	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr14:68320800-68338600	Weak transcription	Primary B cells from peripheral blood	blood
21	chr14:68321000-68325800	Weak transcription	GM12878-XiMat	blood
22	chr14:68321000-68334000	Weak transcription	Primary B cells from cord blood	blood
23	chr14:68321200-68322400	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr14:68321200-68334400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr14:68321400-68334200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr14:68321600-68322200	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr14:68321600-68322800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr14:68321800-68322200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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