Variant report

Variant	rs55657328
Chromosome Location	chr16:70290695-70290696
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:70290475-70290813	K562	blood:	n/a	n/a
2	POLR2A	chr16:70290475-70290737	K562	blood:	n/a	n/a
3	POLR2A	chr16:70290439-70290736	K562	blood:	n/a	n/a
4	POLR2A	chr16:70290486-70290707	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr16:70290667-70290701	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr16:70284764-70290858	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70285412..70287242-chr16:70288955..70291025,2	K562	blood:
2	chr16:70289607..70292133-chr16:70294399..70296024,2	K562	blood:
3	chr16:70287987..70291315-chr16:70292990..70294752,3	K562	blood:
4	chr16:70286246..70291555-chr16:70316780..70324702,12	K562	blood:

No data

Variant related genes	Relation type
EXOSC6	TF binding region
ENSG00000157349	Chromatin interaction
ENSG00000223496	Chromatin interaction
ENSG00000090861	Chromatin interaction

Extended variants
information (count: 150 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:138)

rs_ID	r²[population]
rs11537667	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11859191	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11859257	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11859730	0.90[AMR][1000 genomes]
rs11859827	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11860870	0.92[AFR][1000 genomes]
rs11860922	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11861097	0.81[AMR][1000 genomes]
rs11862053	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11862150	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11862188	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11863943	1.00[EUR][1000 genomes]
rs11864179	1.00[EUR][1000 genomes]
rs11865484	1.00[EUR][1000 genomes]
rs11865564	1.00[EUR][1000 genomes]
rs11866378	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11866451	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970121	1.00[EUR][1000 genomes]
rs16970147	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16970302	1.00[EUR][1000 genomes]
rs16970361	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970609	0.93[AFR][1000 genomes]
rs17878609	1.00[EUR][1000 genomes]
rs17878832	1.00[EUR][1000 genomes]
rs17880242	1.00[EUR][1000 genomes]
rs17881069	1.00[EUR][1000 genomes]
rs17881219	1.00[EUR][1000 genomes]
rs17883309	1.00[EUR][1000 genomes]
rs17886064	1.00[EUR][1000 genomes]
rs2869156	1.00[AMR][1000 genomes]
rs3096368	1.00[EUR][1000 genomes]
rs35904382	1.00[EUR][1000 genomes]
rs3972037	0.89[AMR][1000 genomes]
rs3972075	0.90[AMR][1000 genomes]
rs55769835	1.00[EUR][1000 genomes]
rs55805938	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55819743	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55936739	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55963712	0.81[AMR][1000 genomes]
rs55965002	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55971559	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56043981	0.91[AFR][1000 genomes]
rs56050266	1.00[EUR][1000 genomes]
rs56051513	0.90[AMR][1000 genomes]
rs56082018	1.00[EUR][1000 genomes]
rs56090000	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56096542	0.89[AFR][1000 genomes]
rs56217164	0.93[AFR][1000 genomes]
rs56234537	0.93[AFR][1000 genomes]
rs56980444	1.00[EUR][1000 genomes]
rs57279408	0.93[AFR][1000 genomes]
rs57320283	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57422630	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57623576	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58047061	1.00[EUR][1000 genomes]
rs58055772	0.81[AFR][1000 genomes]
rs58131227	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58319566	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs58328210	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58467558	1.00[EUR][1000 genomes]
rs59384897	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59612351	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59769732	1.00[AMR][1000 genomes]
rs59791510	0.91[AFR][1000 genomes]
rs59849898	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59928915	0.84[AFR][1000 genomes]
rs60103946	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60426209	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60463946	1.00[AMR][1000 genomes]
rs60523557	0.91[AFR][1000 genomes]
rs60567469	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs60815141	1.00[EUR][1000 genomes]
rs60841206	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61172065	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61319691	1.00[EUR][1000 genomes]
rs61391917	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61594809	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6499307	0.81[AMR][1000 genomes]
rs6499309	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6499312	1.00[EUR][1000 genomes]
rs6499313	1.00[EUR][1000 genomes]
rs6499314	1.00[EUR][1000 genomes]
rs6499315	1.00[EUR][1000 genomes]
rs7184248	0.89[AFR][1000 genomes]
rs7185665	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7186024	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7188864	1.00[EUR][1000 genomes]
rs7189535	0.81[AMR][1000 genomes]
rs7190536	1.00[EUR][1000 genomes]
rs7190921	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7192000	1.00[EUR][1000 genomes]
rs7195086	1.00[EUR][1000 genomes]
rs7195567	0.91[AFR][1000 genomes]
rs7198871	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7199346	1.00[EUR][1000 genomes]
rs7199655	1.00[EUR][1000 genomes]
rs7204800	0.91[AFR][1000 genomes]
rs7205871	0.89[AFR][1000 genomes]
rs7205918	1.00[EUR][1000 genomes]
rs7205990	0.81[AFR][1000 genomes]
rs7206347	1.00[EUR][1000 genomes]
rs74024172	0.90[AMR][1000 genomes]
rs74024176	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024177	1.00[AMR][1000 genomes]
rs74024180	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024182	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024183	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024185	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024186	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024187	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024188	1.00[EUR][1000 genomes]
rs74024191	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024193	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024196	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024199	0.91[AFR][1000 genomes]
rs74024200	0.91[AFR][1000 genomes]
rs74026022	1.00[EUR][1000 genomes]
rs74026033	1.00[EUR][1000 genomes]
rs74026049	1.00[EUR][1000 genomes]
rs8044699	0.90[AMR][1000 genomes]
rs8045571	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8045769	0.90[AMR][1000 genomes]
rs8046253	1.00[EUR][1000 genomes]
rs8046280	0.87[AFR][1000 genomes]
rs8046662	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8046786	1.00[EUR][1000 genomes]
rs8049046	1.00[EUR][1000 genomes]
rs8051869	0.84[AFR][1000 genomes]
rs8053040	0.91[AFR][1000 genomes]
rs8053657	1.00[EUR][1000 genomes]
rs8054203	1.00[EUR][1000 genomes]
rs8055675	0.81[AMR][1000 genomes]
rs8056196	0.81[AMR][1000 genomes]
rs8056811	1.00[EUR][1000 genomes]
rs8062602	1.00[EUR][1000 genomes]
rs8063749	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8064090	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758428	chr16:69855122-70313222	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv2758652	chr16:69855122-70313222	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	esv1830874	chr16:69968850-70298988	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv428328	chr16:69986563-70313222	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	esv1820100	chr16:70048808-70311044	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	esv33745	chr16:70116599-70319873	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	esv1801017	chr16:70141558-70303736	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv833271	chr16:70185694-70353334	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
9	esv1804795	chr16:70206819-70294463	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
10	nsv1061286	chr16:70253809-70331407	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
11	nsv906868	chr16:70270429-70292810	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	nsv906869	chr16:70285901-70292810	Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70285800-70291600	Weak transcription	Fetal Kidney	kidney
2	chr16:70285800-70310200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr16:70286000-70291400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr16:70286000-70291400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr16:70286000-70296200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr16:70286000-70299600	Strong transcription	Colonic Mucosa	Colon
7	chr16:70286000-70299800	Strong transcription	HSMMtube	muscle
8	chr16:70286000-70300000	Strong transcription	GM12878-XiMat	blood
9	chr16:70286000-70306200	Strong transcription	Rectal Mucosa Donor 31	rectum
10	chr16:70286000-70307400	Strong transcription	Primary T cells from cord blood	blood
11	chr16:70286000-70316400	Strong transcription	Liver	Liver
12	chr16:70286000-70318600	Strong transcription	Fetal Intestine Large	intestine
13	chr16:70286000-70319000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr16:70286000-70320000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr16:70286000-70320400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr16:70286000-70320400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr16:70286000-70320400	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr16:70286000-70320400	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr16:70286000-70320400	Strong transcription	Osteobl	bone
20	chr16:70286000-70321400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr16:70286000-70321400	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr16:70286200-70291200	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr16:70286200-70292800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr16:70286200-70294800	Strong transcription	Colon Smooth Muscle	Colon
25	chr16:70286200-70295000	Strong transcription	HMEC	breast
26	chr16:70286200-70296600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr16:70286200-70299800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr16:70286200-70300000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
29	chr16:70286200-70300000	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr16:70286200-70300000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr16:70286200-70300000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr16:70286200-70300000	Strong transcription	Brain Substantia Nigra	brain
33	chr16:70286200-70300000	Strong transcription	Placenta Amnion	Placenta Amnion
34	chr16:70286200-70300000	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr16:70286200-70300000	Strong transcription	NHDF-Ad	bronchial
36	chr16:70286200-70303400	Strong transcription	Lung	lung
37	chr16:70286200-70304600	Strong transcription	A549	lung
38	chr16:70286200-70305800	Strong transcription	Gastric	stomach
39	chr16:70286200-70306000	Strong transcription	Brain Hippocampus Middle	brain
40	chr16:70286200-70306000	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr16:70286200-70306800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr16:70286200-70306800	Strong transcription	Right Ventricle	heart
43	chr16:70286200-70306800	Strong transcription	NHLF	lung
44	chr16:70286200-70307400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr16:70286200-70307400	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr16:70286200-70307400	Strong transcription	Brain Cingulate Gyrus	brain
47	chr16:70286200-70307600	Strong transcription	Brain Angular Gyrus	brain
48	chr16:70286200-70311000	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr16:70286200-70316600	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr16:70286200-70317200	Strong transcription	Placenta	Placenta

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