Variant report

Variant	rs11623349
Chromosome Location	chr14:66301098-66301099
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11623689	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs11623927	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11627737	1.00[CHB][hapmap];0.91[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12896055	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs55768814	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59153534	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs74056874	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs74056877	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs74056879	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74056882	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
4	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
5	nsv1045000	chr14:66010886-66372518	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv1052389	chr14:66255781-66321562	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1038849	chr14:66259700-66329919	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	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

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66298600-66304800	Weak transcription	Thymus	Thymus
2	chr14:66299200-66303000	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr14:66299400-66302400	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr14:66299800-66301400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr14:66299800-66302200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr14:66299800-66302200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:66299800-66302400	Enhancers	H1 Cell Line	embryonic stem cell
8	chr14:66299800-66303200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr14:66299800-66303400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr14:66300000-66302400	Weak transcription	Fetal Thymus	thymus
11	chr14:66300200-66301200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:66300200-66301200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:66300200-66301800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:66300200-66304000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr14:66300200-66304000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr14:66300200-66304400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr14:66300200-66304600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr14:66300400-66301400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:66300400-66301400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr14:66300400-66301400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr14:66300400-66301600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr14:66300400-66303600	Weak transcription	Primary T cells from cord blood	blood
23	chr14:66300400-66304200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr14:66300400-66304200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr14:66300400-66304200	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr14:66300400-66304400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr14:66300400-66304400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr14:66300400-66307200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr14:66300600-66303200	Weak transcription	Dnd41	blood
30	chr14:66300600-66303600	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr14:66300600-66305400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr14:66300800-66301400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr14:66300800-66302200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr14:66301000-66301400	Weak transcription	Brain Germinal Matrix	brain
35	chr14:66301000-66302200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr14:66301000-66302200	Enhancers	HUES64 Cell Line	embryonic stem cell

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