Variant report

Variant	rs41225
Chromosome Location	chr14:71832855-71832856
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10130652	0.83[EUR][1000 genomes]
rs12878009	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12897119	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs193440	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs193441	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs193442	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs193443	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2041330	0.81[EUR][1000 genomes]
rs3088206	0.83[EUR][1000 genomes]
rs36528	0.82[EUR][1000 genomes]
rs36535	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs41217	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs41218	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs41219	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41224	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41227	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41229	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7153726	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7154208	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8007271	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8007521	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8016217	0.85[EUR][1000 genomes]
rs8023058	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs917391	0.86[AMR][1000 genomes];0.92[EUR][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	nsv832827	chr14:71676178-71833519	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	esv1831401	chr14:71786411-71845264	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71806600-71838400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr14:71808800-71838600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr14:71812200-71838800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:71820000-71833600	Enhancers	Primary B cells from peripheral blood	blood
5	chr14:71820200-71838600	Weak transcription	Hela-S3	cervix
6	chr14:71820600-71838800	Weak transcription	Primary T cells from cord blood	blood
7	chr14:71827200-71837400	Weak transcription	Small Intestine	intestine
8	chr14:71828600-71838200	Weak transcription	Esophagus	oesophagus
9	chr14:71829000-71833200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr14:71829000-71833200	Enhancers	K562	blood
11	chr14:71830000-71833600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr14:71830000-71838200	Weak transcription	Fetal Intestine Small	intestine
13	chr14:71830600-71838600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr14:71830600-71838600	Weak transcription	Brain Angular Gyrus	brain
15	chr14:71830800-71833200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr14:71831200-71833200	Enhancers	Fetal Heart	heart
17	chr14:71831200-71837200	Weak transcription	Stomach Mucosa	stomach
18	chr14:71831200-71838600	Weak transcription	HSMM	muscle
19	chr14:71831200-71838800	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr14:71831400-71837400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr14:71831400-71838200	Weak transcription	Osteobl	bone
22	chr14:71831400-71838800	Weak transcription	HSMMtube	muscle
23	chr14:71831600-71838400	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr14:71831600-71838800	Weak transcription	Fetal Lung	lung
25	chr14:71831800-71833200	Enhancers	HepG2	liver
26	chr14:71831800-71838800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr14:71831800-71840600	Weak transcription	Spleen	Spleen
28	chr14:71832200-71833000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:71832200-71833200	Weak transcription	Primary B cells from cord blood	blood
30	chr14:71832200-71833200	Strong transcription	GM12878-XiMat	blood
31	chr14:71832200-71837400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr14:71832200-71837800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr14:71832200-71838400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr14:71832200-71843800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr14:71832400-71837400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr14:71832400-71838200	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr14:71832400-71838600	Weak transcription	NH-A	brain
38	chr14:71832600-71834000	Weak transcription	Fetal Stomach	stomach
39	chr14:71832600-71837400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr14:71832600-71838000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr14:71832800-71833200	Strong transcription	NHEK	skin
42	chr14:71832800-71834800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr14:71832800-71837800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr14:71832800-71838600	Weak transcription	NHLF	lung

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