Variant report

Variant	rs9926355
Chromosome Location	chr16:70556058-70556059
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:70555921-70559826	GM12878	blood:	n/a	n/a
2	PML	chr16:70556040-70558674	GM12878	blood:	n/a	n/a
3	YY1	chr16:70555999-70556650	GM12878	blood:	n/a	n/a
4	POLR2A	chr16:70555988-70558698	GM12878	blood:	n/a	n/a
5	NFIC	chr16:70556047-70558438	GM12878	blood:	n/a	n/a
6	POLR2A	chr16:70555847-70556176	HepG2	liver:	n/a	n/a
7	RUNX3	chr16:70555989-70558392	GM12878	blood:	n/a	n/a
8	YY1	chr16:70556026-70556642	GM12878	blood:	n/a	n/a
9	POLR2A	chr16:70556018-70559879	GM12892	blood:	n/a	n/a
10	RUNX3	chr16:70556033-70556844	GM12878	blood:	n/a	n/a
11	POLR2A	chr16:70556030-70559733	GM12892	blood:	n/a	n/a
12	TCF12	chr16:70556051-70556398	GM12878	blood:	n/a	n/a
13	MEF2A	chr16:70555934-70556739	GM12878	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70471134..70474092-chr16:70555921..70560516,5	K562	blood:
2	chr16:70321887..70324896-chr16:70556007..70561529,9	K562	blood:
3	chr16:70555931..70558148-chr16:70569788..70572644,2	K562	blood:
4	chr16:70555634..70562342-chr16:70718026..70723686,6	MCF-7	breast:
5	chr16:70540803..70547043-chr16:70555255..70559706,8	MCF-7	breast:
6	chr16:70510287..70517781-chr16:70555054..70559513,7	MCF-7	breast:
7	chr16:70518786..70520618-chr16:70554933..70557035,2	K562	blood:
8	chr16:70555993..70558227-chr16:70687892..70690787,2	K562	blood:
9	chr16:70413177..70417869-chr16:70554702..70561133,15	MCF-7	breast:
10	chr16:70321891..70324896-chr16:70556007..70559559,7	K562	blood:
11	chr16:70542244..70550034-chr16:70550058..70558887,15	MCF-7	breast:
12	chr16:70555851..70557474-chr16:70727939..70730719,2	MCF-7	breast:
13	chr16:70515238..70517748-chr16:70555099..70558723,4	MCF-7	breast:

No data

Variant related genes	Relation type
SF3B3	TF binding region
ENSG00000132613	Chromatin interaction
ENSG00000221066	Chromatin interaction
ENSG00000157368	Chromatin interaction
ENSG00000103043	Chromatin interaction
ENSG00000260111	Chromatin interaction
ENSG00000157350	Chromatin interaction
ENSG00000157349	Chromatin interaction
ENSG00000103051	Chromatin interaction
ENSG00000189091	Chromatin interaction
ENSG00000157353	Chromatin interaction
ENSG00000090861	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	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13334577	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs13339216	0.95[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	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970240	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970243	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970253	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970259	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970260	0.94[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	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28438025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28475204	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28619389	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28777081	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55667445	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55885171	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55926204	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs56189591	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57451547	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58142695	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58144908	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58885322	1.00[EUR][1000 genomes]
rs59158714	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59460917	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60757048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61641432	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61692284	1.00[EUR][1000 genomes]
rs6499318	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7184876	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7185011	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7185462	1.00[EUR][1000 genomes]
rs7186436	0.97[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	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7193228	0.98[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	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7200978	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73573163	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73573175	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73578815	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73578819	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8047593	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8049929	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8050767	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8050782	1.00[EUR][1000 genomes]
rs8051473	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8051618	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8057327	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8057732	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8058754	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8059200	0.85[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	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9921410	1.00[AMR][1000 genomes]
rs9926435	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9928617	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9928808	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9929182	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9929354	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9929882	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9932065	1.00[AMR][1000 genomes]
rs9932939	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9933022	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9936085	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9937769	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9939252	0.90[AFR][1000 genomes]
rs9940353	0.93[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	chr16:70548800-70556200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr16:70550000-70556200	Weak transcription	Fetal Brain Male	brain
13	chr16:70550400-70556800	Weak transcription	Esophagus	oesophagus
14	chr16:70551200-70556800	Weak transcription	Aorta	Aorta
15	chr16:70551400-70556200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr16:70551400-70556200	Weak transcription	Gastric	stomach
17	chr16:70551400-70556400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr16:70551600-70556200	Weak transcription	Colonic Mucosa	Colon
19	chr16:70551600-70556400	Weak transcription	Colon Smooth Muscle	Colon
20	chr16:70551800-70556400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr16:70552000-70556200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr16:70552200-70556200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr16:70552200-70556200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr16:70552200-70556200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr16:70552200-70556200	Weak transcription	A549	lung
26	chr16:70552200-70556400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr16:70552400-70556200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr16:70552400-70556200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr16:70552400-70556200	Weak transcription	Brain Angular Gyrus	brain
30	chr16:70552400-70556200	Weak transcription	Fetal Lung	lung
31	chr16:70552400-70556200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr16:70552400-70556400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr16:70552400-70556400	Weak transcription	Fetal Kidney	kidney
34	chr16:70552400-70556400	Weak transcription	Pancreas	Pancrea
35	chr16:70552400-70556400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr16:70552400-70556400	Weak transcription	HSMMtube	muscle
37	chr16:70552600-70556200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr16:70552600-70556200	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr16:70552600-70556400	Weak transcription	Brain Germinal Matrix	brain
40	chr16:70552600-70556400	Weak transcription	Fetal Intestine Large	intestine
41	chr16:70553000-70556200	Weak transcription	Brain Anterior Caudate	brain
42	chr16:70553000-70556200	Weak transcription	Thymus	Thymus
43	chr16:70553000-70556800	Weak transcription	Ovary	ovary
44	chr16:70553400-70556200	Enhancers	Primary hematopoietic stem cells	blood
45	chr16:70553400-70556400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr16:70553400-70556400	Weak transcription	Fetal Intestine Small	intestine
47	chr16:70553800-70556200	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr16:70553800-70556200	Enhancers	Primary T cells fromperipheralblood	blood
49	chr16:70553800-70556200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr16:70553800-70556200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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