Variant report

Variant	rs1316972
Chromosome Location	chr14:66394948-66394949
allele	C/G
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:12)

rs_ID	r²[population]
rs12880804	0.87[EUR][1000 genomes]
rs2022849	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2186099	0.86[EUR][1000 genomes]
rs35840280	0.94[ASN][1000 genomes]
rs60518430	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573643	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66661672	0.87[EUR][1000 genomes]
rs67132480	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs67381935	0.87[EUR][1000 genomes]
rs7145108	0.89[YRI][hapmap];0.87[EUR][1000 genomes]
rs7145214	0.89[YRI][hapmap];0.92[EUR][1000 genomes]
rs7145970	0.89[CEU][hapmap];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
2	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
3	esv3366524	chr14:65924360-66423862	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1042671	chr14:66010886-66399888	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv817409	chr14:66220075-66990168	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	nsv564953	chr14:66287921-67046960	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
7	nsv1050485	chr14:66308283-67109270	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
8	nsv530775	chr14:66316836-67079049	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
9	nsv530793	chr14:66317036-67078908	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
10	nsv1046455	chr14:66345369-66848234	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	nsv1043864	chr14:66372458-66845503	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv917338	chr14:66376591-66841403	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66391600-66397600	Enhancers	Primary T cells fromperipheralblood	blood
2	chr14:66392000-66395600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr14:66392000-66396400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:66392200-66397400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr14:66392400-66397000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr14:66392600-66395000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr14:66392600-66395400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr14:66392600-66395400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr14:66392800-66395800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr14:66393000-66395200	Enhancers	H1 Cell Line	embryonic stem cell
11	chr14:66393000-66395600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr14:66393000-66395600	Enhancers	Placenta Amnion	Placenta Amnion
13	chr14:66393000-66396600	Enhancers	Dnd41	blood
14	chr14:66393000-66397000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr14:66393000-66397200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr14:66393200-66395200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr14:66393200-66395400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
18	chr14:66393600-66395400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr14:66393800-66395000	Enhancers	Brain Substantia Nigra	brain
20	chr14:66393800-66395400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr14:66393800-66395400	Enhancers	Primary hematopoietic stem cells	blood
22	chr14:66393800-66395600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr14:66393800-66396800	Enhancers	Fetal Thymus	thymus
24	chr14:66394000-66395200	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr14:66394000-66395600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr14:66394200-66395000	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr14:66394200-66395000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr14:66394200-66395200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr14:66394200-66395200	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr14:66394200-66395200	Enhancers	Fetal Brain Female	brain
31	chr14:66394200-66395200	Enhancers	Thymus	Thymus
32	chr14:66394400-66395200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr14:66394400-66395400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr14:66394400-66395400	Enhancers	Brain Hippocampus Middle	brain
35	chr14:66394600-66395000	Flanking Active TSS	Brain Germinal Matrix	brain
36	chr14:66394600-66395200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr14:66394600-66395400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:66394600-66395400	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr14:66394600-66395400	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr14:66394800-66395000	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr14:66394800-66395000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr14:66394800-66395000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr14:66394800-66395200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr14:66394800-66395200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr14:66394800-66395200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr14:66394800-66395200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr14:66394800-66395200	Enhancers	Brain Cingulate Gyrus	brain
48	chr14:66394800-66395200	Enhancers	Placenta	Placenta
49	chr14:66394800-66395400	Enhancers	Fetal Brain Male	brain

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