Variant report

Variant	rs35890164
Chromosome Location	chr16:81046733-81046734
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr16:81046578-81047006	T-47D	breast:	n/a	n/a
2	FOXA1	chr16:81046524-81047072	T-47D	breast:	n/a	n/a
3	GATA3	chr16:81046601-81047094	T-47D	breast:	n/a	n/a
4	FOXA1	chr16:81046621-81047098	T-47D	breast:	n/a	n/a
5	JUND	chr16:81046464-81047155	T-47D	breast:	n/a	n/a
6	GATA3	chr16:81046601-81047046	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81045576..81047236-chr16:81766244..81767798,2	K562	blood:
2	chr16:81045256..81047654-chr16:81067599..81069498,2	MCF-7	breast:

Variant related genes	Relation type
CENPN	TF binding region
ENSG00000166454	Chromatin interaction
ENSG00000260213	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs12918103	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12919463	1.00[EUR][1000 genomes]
rs12919980	1.00[EUR][1000 genomes]
rs12920066	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12920959	1.00[AMR][1000 genomes]
rs12921900	1.00[EUR][1000 genomes]
rs12921990	1.00[EUR][1000 genomes]
rs12922449	1.00[EUR][1000 genomes]
rs12924576	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12924715	1.00[EUR][1000 genomes]
rs12924719	1.00[EUR][1000 genomes]
rs12928381	1.00[EUR][1000 genomes]
rs12928648	1.00[EUR][1000 genomes]
rs12928790	1.00[EUR][1000 genomes]
rs12929250	1.00[EUR][1000 genomes]
rs12930046	1.00[EUR][1000 genomes]
rs12930202	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12931555	1.00[EUR][1000 genomes]
rs12931678	1.00[EUR][1000 genomes]
rs12931766	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12931852	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12932119	1.00[EUR][1000 genomes]
rs12932272	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12932466	1.00[EUR][1000 genomes]
rs12933920	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13329702	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13333603	1.00[EUR][1000 genomes]
rs13336113	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2241408	1.00[EUR][1000 genomes]
rs2278021	1.00[EUR][1000 genomes]
rs2303214	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2549893	1.00[EUR][1000 genomes]
rs34075739	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34082687	1.00[EUR][1000 genomes]
rs34105513	1.00[EUR][1000 genomes]
rs34262209	1.00[EUR][1000 genomes]
rs34270219	1.00[EUR][1000 genomes]
rs34277507	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34529307	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34545373	1.00[EUR][1000 genomes]
rs34586837	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34638844	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34699659	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34966856	1.00[EUR][1000 genomes]
rs34984547	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs34992819	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35011155	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35035454	0.87[EUR][1000 genomes]
rs35110550	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35117857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35161190	1.00[EUR][1000 genomes]
rs35282277	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35292442	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35552248	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35555542	1.00[AMR][1000 genomes]
rs35674322	1.00[EUR][1000 genomes]
rs35887664	1.00[EUR][1000 genomes]
rs35899445	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36040615	1.00[EUR][1000 genomes]
rs36052656	1.00[EUR][1000 genomes]
rs36056886	1.00[EUR][1000 genomes]
rs36099793	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3759931	1.00[EUR][1000 genomes]
rs57203494	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71400131	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71400132	0.85[ASN][1000 genomes]
rs71400134	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71400135	1.00[EUR][1000 genomes]
rs71400136	1.00[EUR][1000 genomes]
rs71400137	1.00[EUR][1000 genomes]
rs71400138	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71400140	1.00[EUR][1000 genomes]
rs71400141	1.00[EUR][1000 genomes]
rs71400142	1.00[EUR][1000 genomes]
rs7200400	0.89[EUR][1000 genomes]
rs7202356	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73582605	0.87[EUR][1000 genomes]
rs754428	0.89[EUR][1000 genomes]
rs804893	1.00[EUR][1000 genomes]
rs8049650	0.87[EUR][1000 genomes]
rs8062810	1.00[EUR][1000 genomes]
rs8177862	1.00[EUR][1000 genomes]
rs8177863	1.00[EUR][1000 genomes]
rs8177878	1.00[EUR][1000 genomes]
rs8177891	1.00[EUR][1000 genomes]
rs8177919	1.00[EUR][1000 genomes]
rs8177938	1.00[EUR][1000 genomes]
rs874051	0.81[ASN][1000 genomes]
rs9922227	1.00[EUR][1000 genomes]
rs9930427	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948534	chr16:80867635-81160492	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1065258	chr16:80887483-81081768	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv1058045	chr16:80918138-81048242	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv1064164	chr16:80918138-81126967	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv542991	chr16:80918138-81126967	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	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
7	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
8	nsv573338	chr16:81020393-81106944	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats 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	35 gene(s)	inside rSNPs	diseases
9	nsv427984	chr16:81026691-81320341	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81041600-81047600	Weak transcription	Spleen	Spleen
2	chr16:81041800-81053600	Weak transcription	Gastric	stomach
3	chr16:81041800-81069000	Weak transcription	Ovary	ovary
4	chr16:81041800-81069000	Weak transcription	Small Intestine	intestine
5	chr16:81042000-81047000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr16:81042000-81047400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr16:81042000-81047800	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr16:81042000-81047800	Weak transcription	Aorta	Aorta
9	chr16:81042000-81047800	Weak transcription	Right Ventricle	heart
10	chr16:81042000-81048000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr16:81042000-81048200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr16:81042000-81048200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr16:81042000-81053000	Weak transcription	Brain Angular Gyrus	brain
14	chr16:81042000-81053600	Weak transcription	HSMMtube	muscle
15	chr16:81042000-81054400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr16:81042000-81054800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr16:81042000-81057600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr16:81042000-81058400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr16:81042000-81069000	Weak transcription	Esophagus	oesophagus
20	chr16:81042000-81069000	Weak transcription	Pancreas	Pancrea
21	chr16:81042000-81069600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr16:81042200-81046800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr16:81042200-81046800	Weak transcription	Primary T cells from cord blood	blood
24	chr16:81042200-81046800	Weak transcription	Adipose Nuclei	Adipose
25	chr16:81042200-81046800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr16:81042200-81046800	Weak transcription	Fetal Intestine Small	intestine
27	chr16:81042200-81046800	Weak transcription	Fetal Stomach	stomach
28	chr16:81042200-81046800	Weak transcription	Left Ventricle	heart
29	chr16:81042200-81047000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr16:81042200-81047000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr16:81042200-81047000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr16:81042200-81047000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr16:81042200-81047400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr16:81042200-81047600	Weak transcription	Fetal Brain Female	brain
35	chr16:81042200-81047800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr16:81042200-81047800	Weak transcription	Primary B cells from peripheral blood	blood
37	chr16:81042200-81047800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr16:81042200-81048200	Weak transcription	Brain Anterior Caudate	brain
39	chr16:81042200-81052200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr16:81042200-81053600	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr16:81042200-81058600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr16:81042200-81068800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr16:81042200-81069000	Weak transcription	Colonic Mucosa	Colon
44	chr16:81042200-81069600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr16:81042400-81046800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr16:81042400-81046800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr16:81042400-81047000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr16:81042400-81047000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr16:81042400-81047000	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr16:81042400-81047600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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