Variant report

Variant	rs10454708
Chromosome Location	chr16:81358361-81358362
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81302492..81305396-chr16:81357218..81358966,2	MCF-7	breast:
2	chr16:81307371..81310396-chr16:81356696..81360378,4	MCF-7	breast:
3	chr16:81357398..81359804-chr16:81378365..81379960,2	MCF-7	breast:
4	chr16:81040427..81042775-chr16:81356563..81358580,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000103121	Chromatin interaction
ENSG00000166451	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11150384	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11150386	0.94[ASN][1000 genomes]
rs12149852	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12599564	0.95[ASN][1000 genomes]
rs12924233	0.90[ASN][1000 genomes]
rs3809632	0.95[ASN][1000 genomes]
rs3809633	0.84[EUR][1000 genomes]
rs4468614	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4522413	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4598907	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4888135	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4888137	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6564868	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7184259	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7186648	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7195134	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7196075	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8055879	0.94[ASN][1000 genomes]
rs8060840	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9926795	0.95[ASN][1000 genomes]
rs9940292	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats 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	56 gene(s)	inside rSNPs	diseases
3	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
5	nsv1061359	chr16:81349826-81471867	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
6	nsv542992	chr16:81349826-81471867	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81349800-81358400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr16:81349800-81358400	Weak transcription	Ovary	ovary
3	chr16:81349800-81365800	Weak transcription	Aorta	Aorta
4	chr16:81350000-81358400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr16:81350000-81361400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr16:81350000-81361600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr16:81350000-81364800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr16:81350000-81365800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr16:81350000-81371200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr16:81350000-81372000	Weak transcription	Primary B cells from cord blood	blood
11	chr16:81350000-81373200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr16:81350000-81375000	Weak transcription	Fetal Intestine Large	intestine
13	chr16:81350200-81358400	Weak transcription	Right Atrium	heart
14	chr16:81350400-81358400	Weak transcription	Spleen	Spleen
15	chr16:81350400-81367600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr16:81350400-81370400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr16:81350400-81373200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr16:81350600-81363000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr16:81350600-81367600	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr16:81350600-81372800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr16:81350800-81365800	Weak transcription	Fetal Brain Male	brain
22	chr16:81351200-81359400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr16:81351200-81369800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr16:81351400-81368800	Weak transcription	Dnd41	blood
25	chr16:81351400-81371200	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr16:81352600-81362800	Weak transcription	Gastric	stomach
27	chr16:81352800-81366000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr16:81352800-81367400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr16:81353200-81367800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr16:81353400-81373200	Weak transcription	HUVEC	blood vessel
31	chr16:81353400-81390400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr16:81353600-81366200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr16:81353800-81372600	Weak transcription	A549	lung
34	chr16:81354000-81360200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr16:81354000-81360400	Weak transcription	Psoas Muscle	Psoas
36	chr16:81354000-81361800	Weak transcription	HSMMtube	muscle
37	chr16:81354000-81364600	Weak transcription	Small Intestine	intestine
38	chr16:81354000-81371400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr16:81354200-81358400	Weak transcription	HMEC	breast
40	chr16:81354200-81359600	Weak transcription	NHLF	lung
41	chr16:81354200-81391600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr16:81354400-81358400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr16:81354400-81358400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr16:81354400-81372800	Weak transcription	HSMM	muscle
45	chr16:81354600-81361000	Weak transcription	Stomach Mucosa	stomach
46	chr16:81354600-81361800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr16:81355600-81358400	Weak transcription	NHEK	skin
48	chr16:81355600-81371600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr16:81355800-81358400	Weak transcription	Rectal Smooth Muscle	rectum
50	chr16:81355800-81362400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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