Variant report

Variant	rs59460917
Chromosome Location	chr16:70555371-70555372
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr16:70554510-70555448	PBDE	blood:	n/a	n/a
2	POLR2A	chr16:70555115-70555472	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70540803..70547043-chr16:70555255..70559706,8	MCF-7	breast:
2	chr16:70510287..70517781-chr16:70555054..70559513,7	MCF-7	breast:
3	chr16:70518786..70520618-chr16:70554933..70557035,2	K562	blood:
4	chr16:70413177..70417869-chr16:70554702..70561133,15	MCF-7	breast:
5	chr16:70542244..70550034-chr16:70550058..70558887,15	MCF-7	breast:
6	chr16:70379094..70381917-chr16:70553437..70555581,2	K562	blood:
7	chr16:70515238..70517748-chr16:70555099..70558723,4	MCF-7	breast:

No data

Variant related genes	Relation type
SF3B3	TF binding region
ENSG00000157353	Chromatin interaction
ENSG00000103051	Chromatin interaction
ENSG00000168872	Chromatin interaction
ENSG00000261777	Chromatin interaction
ENSG00000260111	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs13331220	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13334577	0.91[AMR][1000 genomes]
rs13339216	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13339561	1.00[AMR][1000 genomes]
rs13339593	1.00[AMR][1000 genomes]
rs13339643	1.00[AMR][1000 genomes]
rs16970226	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970240	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970243	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970253	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970259	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970260	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17878662	1.00[AMR][1000 genomes]
rs17879275	1.00[AMR][1000 genomes]
rs17881316	1.00[AMR][1000 genomes]
rs17885165	1.00[AMR][1000 genomes]
rs17886111	1.00[AMR][1000 genomes]
rs28419202	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28438025	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28475204	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28619389	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28777081	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55667445	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55885171	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55926204	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs56189591	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57451547	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58142695	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58144908	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58885322	1.00[EUR][1000 genomes]
rs59158714	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60757048	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61641432	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61692284	1.00[EUR][1000 genomes]
rs6499318	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7184876	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7185011	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7185462	1.00[EUR][1000 genomes]
rs7186436	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7188297	1.00[AMR][1000 genomes]
rs7188474	1.00[AMR][1000 genomes]
rs7188808	1.00[AMR][1000 genomes]
rs7191191	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7193228	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7196773	1.00[AMR][1000 genomes]
rs7199312	1.00[AMR][1000 genomes]
rs7200586	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7200978	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73573163	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73573175	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73578815	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73578819	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8047593	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8049929	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8050767	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8050782	1.00[EUR][1000 genomes]
rs8051473	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8051618	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8057327	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8057732	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8058754	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8059200	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8061243	1.00[AMR][1000 genomes]
rs8061431	1.00[AMR][1000 genomes]
rs8062414	1.00[AMR][1000 genomes]
rs8062794	1.00[AMR][1000 genomes]
rs9302615	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9921410	1.00[AMR][1000 genomes]
rs9926355	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9926435	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9928617	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9928808	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9929182	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9929354	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9929882	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9932065	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9932939	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9933022	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9936085	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9937769	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9939252	0.86[AFR][1000 genomes]
rs9940353	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833272	chr16:70369769-70569723	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	esv2830027	chr16:70473934-70558039	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 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	chr16:70489400-70556400	Weak transcription	Stomach Mucosa	stomach
2	chr16:70512800-70556400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr16:70528800-70556400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr16:70541200-70556200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr16:70543000-70556200	Weak transcription	Fetal Heart	heart
6	chr16:70545000-70556200	Weak transcription	Small Intestine	intestine
7	chr16:70546200-70556400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr16:70546400-70556400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr16:70546600-70556400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr16:70546800-70556400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr16:70548800-70556000	Weak transcription	Psoas Muscle	Psoas
12	chr16:70548800-70556200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr16:70550000-70556200	Weak transcription	Fetal Brain Male	brain
14	chr16:70550400-70556800	Weak transcription	Esophagus	oesophagus
15	chr16:70551200-70556800	Weak transcription	Aorta	Aorta
16	chr16:70551400-70556200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr16:70551400-70556200	Weak transcription	Gastric	stomach
18	chr16:70551400-70556400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr16:70551600-70556000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr16:70551600-70556000	Weak transcription	Hela-S3	cervix
21	chr16:70551600-70556200	Weak transcription	Colonic Mucosa	Colon
22	chr16:70551600-70556400	Weak transcription	Colon Smooth Muscle	Colon
23	chr16:70551800-70556400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr16:70552000-70556200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr16:70552200-70556200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr16:70552200-70556200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr16:70552200-70556200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr16:70552200-70556200	Weak transcription	A549	lung
29	chr16:70552200-70556400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr16:70552400-70556000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr16:70552400-70556000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr16:70552400-70556000	Weak transcription	Brain Hippocampus Middle	brain
33	chr16:70552400-70556000	Weak transcription	Brain Substantia Nigra	brain
34	chr16:70552400-70556000	Weak transcription	Left Ventricle	heart
35	chr16:70552400-70556200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr16:70552400-70556200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr16:70552400-70556200	Weak transcription	Brain Angular Gyrus	brain
38	chr16:70552400-70556200	Weak transcription	Fetal Lung	lung
39	chr16:70552400-70556200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr16:70552400-70556400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr16:70552400-70556400	Weak transcription	Fetal Kidney	kidney
42	chr16:70552400-70556400	Weak transcription	Pancreas	Pancrea
43	chr16:70552400-70556400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr16:70552400-70556400	Weak transcription	HSMMtube	muscle
45	chr16:70552600-70556000	Weak transcription	Fetal Muscle Leg	muscle
46	chr16:70552600-70556200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr16:70552600-70556200	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr16:70552600-70556400	Weak transcription	Brain Germinal Matrix	brain
49	chr16:70552600-70556400	Weak transcription	Fetal Intestine Large	intestine
50	chr16:70552800-70556000	Weak transcription	Brain Cingulate Gyrus	brain

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