Variant report

Variant	rs8003524
Chromosome Location	chr14:31913622-31913623
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10143516	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs10149460	0.90[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10467704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12100784	0.80[AMR][1000 genomes]
rs12100791	0.80[AMR][1000 genomes]
rs12589391	1.00[MEX][hapmap];0.80[AMR][1000 genomes]
rs28391097	0.80[AMR][1000 genomes]
rs28533318	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs28540010	0.83[AMR][1000 genomes]
rs28758850	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28778148	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs61107917	1.00[AMR][1000 genomes]
rs61408696	0.80[AMR][1000 genomes]
rs61416910	0.80[AMR][1000 genomes]
rs61741258	0.80[AMR][1000 genomes]
rs7142843	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7158422	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74043907	0.80[AMR][1000 genomes]
rs74043915	0.80[AMR][1000 genomes]
rs74043923	0.80[AMR][1000 genomes]
rs74043937	0.80[AMR][1000 genomes]
rs74043941	0.80[AMR][1000 genomes]
rs8003996	0.83[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8007156	0.90[AMR][1000 genomes]
rs8012411	0.80[AMR][1000 genomes]
rs8014570	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
3	nsv1042776	chr14:31844026-32003929	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv542019	chr14:31844026-32003929	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv931935	chr14:31871658-32117666	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv1050774	chr14:31879687-32102906	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv934110	chr14:31887749-32109529	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv934206	chr14:31887749-32257097	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31890400-31917400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:31890400-31921200	Weak transcription	Psoas Muscle	Psoas
3	chr14:31890400-31925800	Weak transcription	Right Ventricle	heart
4	chr14:31890600-31919000	Weak transcription	Brain Anterior Caudate	brain
5	chr14:31890600-31919200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr14:31890600-31920600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr14:31890600-31922400	Weak transcription	Brain Angular Gyrus	brain
8	chr14:31890800-31920800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr14:31890800-31925200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr14:31896200-31919600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr14:31900400-31920200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:31901200-31921200	Weak transcription	Brain Substantia Nigra	brain
13	chr14:31901200-31922400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr14:31901400-31917000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr14:31901600-31916200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr14:31901600-31917000	Weak transcription	Brain Hippocampus Middle	brain
17	chr14:31901800-31917200	Weak transcription	Fetal Muscle Leg	muscle
18	chr14:31901800-31920400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr14:31902000-31914600	Weak transcription	Fetal Brain Female	brain
20	chr14:31904600-31920600	Weak transcription	Left Ventricle	heart
21	chr14:31904600-31925200	Weak transcription	Fetal Brain Male	brain
22	chr14:31904800-31919600	Weak transcription	Fetal Lung	lung
23	chr14:31905000-31915200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr14:31905000-31918800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr14:31905000-31920600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr14:31905200-31917200	Weak transcription	Dnd41	blood
27	chr14:31905200-31925800	Weak transcription	NHDF-Ad	bronchial
28	chr14:31905400-31917200	Weak transcription	Primary B cells from cord blood	blood
29	chr14:31906200-31914800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr14:31907000-31925200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr14:31907200-31917000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr14:31907400-31917200	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr14:31908000-31920000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr14:31908200-31915400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr14:31908200-31917000	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr14:31908200-31917200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr14:31908400-31915200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr14:31908400-31916200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr14:31908400-31917000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr14:31908400-31918800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr14:31909600-31915600	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr14:31909800-31914800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:31909800-31914800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr14:31909800-31920800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr14:31910600-31924400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr14:31910800-31915800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr14:31911000-31914800	Weak transcription	Adipose Nuclei	Adipose
48	chr14:31911000-31914800	Weak transcription	Fetal Intestine Large	intestine
49	chr14:31911000-31919800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr14:31911000-31920800	Weak transcription	Ovary	ovary

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