Variant report

Variant	rs62043926
Chromosome Location	chr16:81481904-81481905
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81480566..81483421-chr16:81511394..81514320,4	MCF-7	breast:
2	chr16:81480768..81483026-chr16:81506735..81508794,2	MCF-7	breast:
3	chr16:81480171..81484417-chr16:81492553..81495426,4	MCF-7	breast:
4	chr16:81347539..81350872-chr16:81478035..81482618,4	MCF-7	breast:
5	chr16:81273374..81275112-chr16:81481220..81483509,2	MCF-7	breast:
6	chr16:81480040..81482006-chr16:81671001..81673698,2	K562	blood:
7	chr16:81480285..81482687-chr16:81557234..81559498,2	K562	blood:
8	chr16:81479204..81482002-chr16:81562835..81564936,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261609	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2317238	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs310008	0.85[EUR][1000 genomes]
rs310010	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60193157	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62043925	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7193107	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9923364	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
3	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
4	esv34108	chr16:81469090-81510471	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81479000-81482000	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr16:81479600-81482200	Flanking Active TSS	Hela-S3	cervix
3	chr16:81479600-81482400	Flanking Active TSS	K562	blood
4	chr16:81479600-81482600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr16:81480000-81482000	Enhancers	Fetal Heart	heart
6	chr16:81480000-81482200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
7	chr16:81480200-81482000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
8	chr16:81480200-81482800	Flanking Active TSS	Liver	Liver
9	chr16:81480400-81482600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr16:81480400-81482600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr16:81480400-81482600	Enhancers	Spleen	Spleen
12	chr16:81480400-81482800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr16:81480600-81482800	Enhancers	Brain Substantia Nigra	brain
14	chr16:81480600-81483200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr16:81480600-81483200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr16:81480600-81483200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr16:81480600-81486400	Enhancers	Small Intestine	intestine
18	chr16:81480600-81487200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr16:81480600-81487600	Transcr. at gene 5' and 3'	A549	lung
20	chr16:81480800-81482000	Enhancers	Fetal Muscle Trunk	muscle
21	chr16:81480800-81482200	Enhancers	Placenta Amnion	Placenta Amnion
22	chr16:81480800-81482200	Flanking Active TSS	Stomach Mucosa	stomach
23	chr16:81480800-81482200	Weak transcription	HSMM	muscle
24	chr16:81480800-81482400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr16:81480800-81483000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr16:81480800-81483200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr16:81480800-81483200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr16:81480800-81483200	Flanking Active TSS	Brain Germinal Matrix	brain
29	chr16:81480800-81484000	Genic enhancers	Primary B cells from peripheral blood	blood
30	chr16:81480800-81484000	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr16:81480800-81484200	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr16:81480800-81485600	Weak transcription	Right Ventricle	heart
33	chr16:81480800-81487600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr16:81481000-81482200	Flanking Active TSS	Fetal Intestine Large	intestine
35	chr16:81481000-81482400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr16:81481000-81482600	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr16:81481000-81482600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
38	chr16:81481000-81482600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
39	chr16:81481000-81482600	Transcr. at gene 5' and 3'	Dnd41	blood
40	chr16:81481000-81482800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr16:81481000-81482800	Flanking Active TSS	Fetal Brain Female	brain
42	chr16:81481000-81482800	Enhancers	Fetal Muscle Leg	muscle
43	chr16:81481000-81483000	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr16:81481000-81483000	Flanking Active TSS	HMEC	breast
45	chr16:81481000-81483000	Transcr. at gene 5' and 3'	NHEK	skin
46	chr16:81481200-81482000	Active TSS	GM12878-XiMat	blood
47	chr16:81481200-81482400	Enhancers	H9 Cell Line	embryonic stem cell
48	chr16:81481200-81482400	Enhancers	NHDF-Ad	bronchial
49	chr16:81481200-81482600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr16:81481200-81482600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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