Variant report

Variant	rs74043923
Chromosome Location	chr14:31792297-31792298
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10149460	0.80[AMR][1000 genomes]
rs10467704	0.80[AMR][1000 genomes]
rs12100784	0.80[AMR][1000 genomes]
rs12100791	0.80[AMR][1000 genomes]
rs12589391	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28758850	0.80[AMR][1000 genomes]
rs61107917	0.80[AMR][1000 genomes]
rs61408696	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs61416910	0.80[AMR][1000 genomes]
rs61741258	0.80[AMR][1000 genomes]
rs7142843	0.80[AMR][1000 genomes]
rs7158422	0.80[AMR][1000 genomes]
rs74043907	0.80[AMR][1000 genomes]
rs74043915	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs74043937	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs74043941	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs8003524	0.80[AMR][1000 genomes]
rs8003996	0.80[AMR][1000 genomes]
rs8007156	0.90[AMR][1000 genomes]
rs8012411	0.80[AMR][1000 genomes]
rs8014570	0.88[AFR][1000 genomes];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	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901589	chr14:31768231-31944723	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31761600-31794400	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr14:31761600-31794400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr14:31762400-31794800	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr14:31762800-31811800	Weak transcription	Fetal Heart	heart
5	chr14:31767800-31795200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr14:31768000-31798600	Weak transcription	Brain Germinal Matrix	brain
7	chr14:31768000-31805800	Weak transcription	NHEK	skin
8	chr14:31768200-31799200	Weak transcription	Colonic Mucosa	Colon
9	chr14:31768400-31798600	Weak transcription	Fetal Brain Female	brain
10	chr14:31769000-31793800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr14:31769800-31798600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr14:31770000-31798200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:31770000-31812600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr14:31770400-31802800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr14:31771000-31888800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr14:31771600-31798600	Weak transcription	A549	lung
17	chr14:31772400-31825200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr14:31773400-31798200	Weak transcription	Right Ventricle	heart
19	chr14:31774400-31798600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr14:31774400-31800400	Weak transcription	Brain Angular Gyrus	brain
21	chr14:31774600-31811200	Weak transcription	HUVEC	blood vessel
22	chr14:31777000-31795000	Weak transcription	GM12878-XiMat	blood
23	chr14:31777200-31795400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr14:31777200-31799400	Weak transcription	Primary T cells from cord blood	blood
25	chr14:31779200-31794400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr14:31780400-31794400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr14:31780600-31795800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr14:31782200-31813000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr14:31782200-31814000	Weak transcription	Fetal Kidney	kidney
30	chr14:31782200-31875200	Weak transcription	Gastric	stomach
31	chr14:31782400-31794400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr14:31782400-31798800	Weak transcription	Spleen	Spleen
33	chr14:31782400-31799200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr14:31782400-31799200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr14:31782400-31827000	Weak transcription	Aorta	Aorta
36	chr14:31782600-31792400	Weak transcription	NH-A	brain
37	chr14:31782600-31798600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr14:31782600-31798800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr14:31782600-31798800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:31783600-31794200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:31783800-31792600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr14:31784400-31793000	Strong transcription	Placenta	Placenta
43	chr14:31784600-31798600	Weak transcription	Brain Substantia Nigra	brain
44	chr14:31785000-31798000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr14:31785200-31798000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr14:31785200-31798200	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr14:31785200-31799200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr14:31785400-31798000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr14:31785600-31798600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr14:31786200-31798600	Weak transcription	Esophagus	oesophagus

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