Variant report

Variant	rs4468614
Chromosome Location	chr16:81353109-81353110
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81350616..81353228-chr16:81763798..81765606,2	K562	blood:
2	chr16:81318119..81320735-chr16:81351761..81354471,2	MCF-7	breast:
3	chr16:81037283..81040126-chr16:81351026..81353469,2	K562	blood:
4	chr16:81247005..81248627-chr16:81352449..81354700,2	MCF-7	breast:
5	chr16:81322640..81324450-chr16:81352381..81355344,2	K562	blood:

Variant related genes	Relation type
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]
rs10454708	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11150384	0.90[ASN][1000 genomes]
rs11150386	0.85[ASN][1000 genomes]
rs12149852	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12599564	0.95[ASN][1000 genomes]
rs12924233	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3809632	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3809633	0.88[EUR][1000 genomes]
rs4522413	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4598907	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4888135	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4888137	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6564868	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7184259	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7186648	0.90[ASN][1000 genomes]
rs7195134	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7196075	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8055879	0.85[ASN][1000 genomes]
rs8060840	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9926795	0.95[ASN][1000 genomes]
rs9940292	0.96[EUR][1000 genomes];0.90[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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81349800-81357800	Weak transcription	Lung	lung
2	chr16:81349800-81358000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:81349800-81358400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr16:81349800-81358400	Weak transcription	Ovary	ovary
5	chr16:81349800-81365800	Weak transcription	Aorta	Aorta
6	chr16:81350000-81353400	Enhancers	HepG2	liver
7	chr16:81350000-81357200	Weak transcription	Fetal Stomach	stomach
8	chr16:81350000-81358000	Weak transcription	Fetal Intestine Small	intestine
9	chr16:81350000-81358200	Weak transcription	Primary T cells from cord blood	blood
10	chr16:81350000-81358400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr16:81350000-81361400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr16:81350000-81361600	Weak transcription	Primary B cells from peripheral blood	blood
13	chr16:81350000-81364800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr16:81350000-81365800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr16:81350000-81371200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr16:81350000-81372000	Weak transcription	Primary B cells from cord blood	blood
17	chr16:81350000-81373200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr16:81350000-81375000	Weak transcription	Fetal Intestine Large	intestine
19	chr16:81350200-81358400	Weak transcription	Right Atrium	heart
20	chr16:81350400-81353400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr16:81350400-81354600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr16:81350400-81355200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr16:81350400-81356800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr16:81350400-81357200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr16:81350400-81357200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr16:81350400-81357800	Weak transcription	Brain Hippocampus Middle	brain
27	chr16:81350400-81357800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr16:81350400-81358400	Weak transcription	Spleen	Spleen
29	chr16:81350400-81367600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr16:81350400-81370400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr16:81350400-81373200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr16:81350600-81354200	Enhancers	HMEC	breast
33	chr16:81350600-81358000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr16:81350600-81363000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr16:81350600-81367600	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr16:81350600-81372800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr16:81350800-81365800	Weak transcription	Fetal Brain Male	brain
38	chr16:81351000-81353800	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr16:81351000-81357800	Weak transcription	Brain Anterior Caudate	brain
40	chr16:81351000-81358000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr16:81351200-81353400	Weak transcription	Small Intestine	intestine
42	chr16:81351200-81357800	Weak transcription	Brain Angular Gyrus	brain
43	chr16:81351200-81359400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr16:81351200-81369800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr16:81351400-81368800	Weak transcription	Dnd41	blood
46	chr16:81351400-81371200	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr16:81351800-81353800	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr16:81351800-81353800	Enhancers	A549	lung
49	chr16:81352000-81353200	Enhancers	Right Ventricle	heart
50	chr16:81352000-81354000	Enhancers	Skeletal Muscle Male	skeletal muscle

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