Variant report

Variant	rs1075352
Chromosome Location	chr16:81404981-81404982
allele	C/T
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	chr16:81308065..81311392-chr16:81404971..81409467,4	MCF-7	breast:
2	chr16:81402253..81405317-chr16:81407967..81410469,4	MCF-7	breast:
3	chr16:81402764..81406733-chr16:81409051..81413423,3	K562	blood:
4	chr16:81398306..81401709-chr16:81401972..81406985,5	K562	blood:
5	chr16:81398530..81401709-chr16:81403591..81406985,3	K562	blood:
6	chr16:81402764..81405493-chr16:81409051..81411986,2	K562	blood:
7	chr16:81389850..81392744-chr16:81404140..81407123,3	K562	blood:
8	chr16:81380592..81382796-chr16:81403819..81406322,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000261609	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1075353	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11639534	0.94[ASN][1000 genomes]
rs11640238	0.99[ASN][1000 genomes]
rs11643220	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11861054	0.93[AMR][1000 genomes]
rs11861072	0.93[AMR][1000 genomes]
rs11861112	0.93[AMR][1000 genomes]
rs11861158	0.93[AMR][1000 genomes]
rs11861322	0.93[AMR][1000 genomes]
rs11861886	0.93[AMR][1000 genomes]
rs11862082	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11862778	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11862805	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11866294	0.93[AMR][1000 genomes]
rs11866308	0.88[AMR][1000 genomes]
rs11866327	0.93[AMR][1000 genomes]
rs11866374	0.93[AMR][1000 genomes]
rs11866407	0.93[AMR][1000 genomes]
rs11866408	0.93[AMR][1000 genomes]
rs11866700	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16955014	0.93[AMR][1000 genomes]
rs16955018	0.93[AMR][1000 genomes]
rs16955027	0.93[AMR][1000 genomes]
rs16955031	0.93[AMR][1000 genomes]
rs16955040	0.93[AMR][1000 genomes]
rs16955059	0.93[AMR][1000 genomes]
rs16955067	0.93[AMR][1000 genomes]
rs16955071	0.93[AMR][1000 genomes]
rs16955074	0.93[AMR][1000 genomes]
rs16955083	0.93[AMR][1000 genomes]
rs16955109	0.83[AMR][1000 genomes]
rs16955113	0.93[AMR][1000 genomes]
rs16955120	0.83[AMR][1000 genomes]
rs16955138	0.88[AMR][1000 genomes]
rs16955149	0.88[AMR][1000 genomes]
rs16955164	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16955173	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16955210	0.85[EUR][1000 genomes]
rs2317129	0.93[AMR][1000 genomes]
rs28561847	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28864156	0.88[AMR][1000 genomes]
rs34684636	0.93[AMR][1000 genomes]
rs35385837	0.86[ASN][1000 genomes]
rs3803653	0.93[AMR][1000 genomes]
rs56859781	0.93[AMR][1000 genomes]
rs57928297	0.88[AMR][1000 genomes]
rs58590084	0.88[AMR][1000 genomes]
rs58594614	0.93[AMR][1000 genomes]
rs59579335	0.93[AMR][1000 genomes]
rs59586584	0.93[AMR][1000 genomes]
rs62046509	0.94[ASN][1000 genomes]
rs7191094	0.99[ASN][1000 genomes]
rs73586406	0.99[ASN][1000 genomes]
rs8057691	0.96[ASN][1000 genomes]
rs9925624	0.93[AMR][1000 genomes]
rs9935105	0.88[AMR][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	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	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
5	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
6	nsv978320	chr16:81400082-81410915	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81379400-81410600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:81382400-81418400	Weak transcription	Small Intestine	intestine
3	chr16:81384000-81410600	Weak transcription	Fetal Kidney	kidney
4	chr16:81384200-81434600	Weak transcription	NHLF	lung
5	chr16:81384200-81437400	Weak transcription	Fetal Brain Male	brain
6	chr16:81385000-81406200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr16:81385400-81410800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr16:81385600-81418200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:81386400-81424200	Weak transcription	Psoas Muscle	Psoas
10	chr16:81387000-81428600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr16:81387200-81407000	Strong transcription	Duodenum Mucosa	Duodenum
12	chr16:81387200-81408200	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr16:81387600-81405800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr16:81387600-81415200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr16:81388000-81407600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:81388800-81410200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr16:81390200-81407200	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr16:81390600-81405200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr16:81390600-81407800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr16:81391200-81417600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr16:81392000-81411000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr16:81392000-81428400	Weak transcription	Fetal Heart	heart
23	chr16:81392400-81408200	Strong transcription	Dnd41	blood
24	chr16:81394400-81405600	Strong transcription	Fetal Stomach	stomach
25	chr16:81394400-81406400	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr16:81395200-81406800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr16:81395400-81405400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr16:81395400-81407200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr16:81395600-81406200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr16:81396200-81405000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr16:81397400-81426400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr16:81399000-81405200	Weak transcription	Lung	lung
33	chr16:81399000-81410600	Weak transcription	Pancreas	Pancrea
34	chr16:81399000-81417400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr16:81399200-81409600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr16:81399200-81431000	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr16:81399400-81410400	Weak transcription	NH-A	brain
38	chr16:81399600-81410600	Weak transcription	Spleen	Spleen
39	chr16:81399600-81413000	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr16:81399800-81414000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr16:81400000-81405600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr16:81400000-81410400	Weak transcription	Brain Hippocampus Middle	brain
43	chr16:81400000-81410400	Weak transcription	Brain Substantia Nigra	brain
44	chr16:81400000-81410400	Weak transcription	Fetal Thymus	thymus
45	chr16:81400000-81410800	Weak transcription	Fetal Brain Female	brain
46	chr16:81400000-81427200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr16:81400000-81434600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr16:81400200-81410400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr16:81400200-81410600	Weak transcription	Primary B cells from peripheral blood	blood
50	chr16:81400600-81405600	Strong transcription	Colonic Mucosa	Colon

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