Variant report

Variant	rs12928790
Chromosome Location	chr16:81128291-81128292
allele	A/G
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	chr16:81062101..81064821-chr16:81128185..81130104,2	MCF-7	breast:
2	chr16:81109242..81112738-chr16:81125910..81131139,12	MCF-7	breast:
3	chr16:81109109..81111856-chr16:81126620..81130593,5	MCF-7	breast:
4	chr16:81123255..81125056-chr16:81127455..81129707,2	MCF-7	breast:
5	chr16:81109367..81115509-chr16:81122988..81128884,9	K562	blood:
6	chr16:81128119..81130536-chr16:81138830..81141315,2	K562	blood:
7	chr16:81068173..81071730-chr16:81126382..81131671,6	MCF-7	breast:
8	chr16:81068545..81070561-chr16:81128158..81130238,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000166454	Chromatin interaction
ENSG00000260213	Chromatin interaction
ENSG00000252608	Chromatin interaction
ENSG00000245059	Chromatin interaction
ENSG00000261061	Chromatin interaction
ENSG00000166455	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs11866124	0.97[ASN][1000 genomes]
rs12444974	0.97[ASN][1000 genomes]
rs12918103	1.00[EUR][1000 genomes]
rs12919463	1.00[EUR][1000 genomes]
rs12919980	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12921900	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12921990	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12922449	1.00[EUR][1000 genomes]
rs12924715	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12924719	1.00[EUR][1000 genomes]
rs12928381	1.00[EUR][1000 genomes]
rs12928648	1.00[EUR][1000 genomes]
rs12929250	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12930046	1.00[EUR][1000 genomes]
rs12930202	1.00[EUR][1000 genomes]
rs12931555	1.00[EUR][1000 genomes]
rs12931678	1.00[EUR][1000 genomes]
rs12931766	1.00[EUR][1000 genomes]
rs12931852	1.00[EUR][1000 genomes]
rs12932119	1.00[EUR][1000 genomes]
rs12932272	1.00[EUR][1000 genomes]
rs12932466	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12933920	1.00[EUR][1000 genomes]
rs13333603	1.00[EUR][1000 genomes]
rs2241408	1.00[EUR][1000 genomes]
rs2278021	1.00[EUR][1000 genomes]
rs2303214	1.00[EUR][1000 genomes]
rs2549893	1.00[EUR][1000 genomes]
rs34075739	1.00[EUR][1000 genomes]
rs34082687	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34105513	1.00[EUR][1000 genomes]
rs34262209	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34270219	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34277507	1.00[EUR][1000 genomes]
rs34529307	1.00[EUR][1000 genomes]
rs34545373	1.00[EUR][1000 genomes]
rs34586837	1.00[EUR][1000 genomes]
rs34638844	1.00[EUR][1000 genomes]
rs34699659	1.00[EUR][1000 genomes]
rs34992819	1.00[EUR][1000 genomes]
rs35011155	1.00[EUR][1000 genomes]
rs35110550	1.00[EUR][1000 genomes]
rs35117857	1.00[EUR][1000 genomes]
rs35161190	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35282277	1.00[EUR][1000 genomes]
rs35292442	1.00[EUR][1000 genomes]
rs35552248	1.00[EUR][1000 genomes]
rs35674322	1.00[EUR][1000 genomes]
rs35887664	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35890164	1.00[EUR][1000 genomes]
rs35899445	1.00[EUR][1000 genomes]
rs36040615	1.00[EUR][1000 genomes]
rs36052656	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36056886	1.00[EUR][1000 genomes]
rs36099793	1.00[EUR][1000 genomes]
rs3759931	1.00[EUR][1000 genomes]
rs4889233	0.97[ASN][1000 genomes]
rs5023849	0.97[ASN][1000 genomes]
rs5023850	0.97[ASN][1000 genomes]
rs5023852	0.97[ASN][1000 genomes]
rs57203494	1.00[EUR][1000 genomes]
rs59022620	0.84[ASN][1000 genomes]
rs60303302	0.84[ASN][1000 genomes]
rs6420419	0.90[ASN][1000 genomes]
rs6420421	0.97[ASN][1000 genomes]
rs6564819	0.84[ASN][1000 genomes]
rs71400131	1.00[EUR][1000 genomes]
rs71400134	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[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]
rs754428	0.89[EUR][1000 genomes]
rs8047495	0.88[ASN][1000 genomes]
rs804893	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8050720	0.88[ASN][1000 genomes]
rs8062810	1.00[EUR][1000 genomes]
rs8177849	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8177862	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177863	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177878	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177891	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8177919	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8177938	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9930427	1.00[EUR][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	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
3	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
4	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
5	nsv1062724	chr16:81052312-81137007	Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	esv2422360	chr16:81066033-81180727	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	esv2751615	chr16:81093099-81307599	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
8	nsv530715	chr16:81117168-81252875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv907005	chr16:81121353-81194912	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81111400-81128400	Weak transcription	Aorta	Aorta
2	chr16:81111400-81128800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr16:81111400-81128800	Weak transcription	Psoas Muscle	Psoas
4	chr16:81111400-81128800	Weak transcription	NHDF-Ad	bronchial
5	chr16:81111400-81129000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:81111400-81129000	Weak transcription	Gastric	stomach
7	chr16:81111400-81129200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr16:81111600-81128400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr16:81111600-81128400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr16:81111600-81128400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr16:81111600-81128400	Weak transcription	Brain Anterior Caudate	brain
12	chr16:81111600-81128400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr16:81111600-81128400	Weak transcription	HSMM	muscle
14	chr16:81111600-81128600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr16:81111600-81128600	Weak transcription	Fetal Kidney	kidney
16	chr16:81111600-81128600	Weak transcription	Pancreas	Pancrea
17	chr16:81111600-81128800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr16:81111600-81128800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr16:81111600-81128800	Weak transcription	Primary B cells from peripheral blood	blood
20	chr16:81111600-81128800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr16:81111600-81128800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr16:81111600-81128800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr16:81111600-81128800	Weak transcription	Colon Smooth Muscle	Colon
24	chr16:81111600-81128800	Weak transcription	Fetal Brain Female	brain
25	chr16:81111600-81128800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr16:81111600-81128800	Weak transcription	Right Atrium	heart
27	chr16:81111600-81128800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr16:81111600-81128800	Weak transcription	HSMMtube	muscle
29	chr16:81111600-81128800	Weak transcription	Osteobl	bone
30	chr16:81111600-81129000	Weak transcription	Brain Germinal Matrix	brain
31	chr16:81111600-81129000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr16:81111600-81129200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr16:81111600-81129200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr16:81111600-81129200	Weak transcription	Left Ventricle	heart
35	chr16:81111800-81128800	Weak transcription	Fetal Brain Male	brain
36	chr16:81111800-81128800	Weak transcription	Fetal Thymus	thymus
37	chr16:81114000-81128400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr16:81120800-81128600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr16:81122000-81129400	Weak transcription	Small Intestine	intestine
40	chr16:81123000-81128400	Weak transcription	Fetal Heart	heart
41	chr16:81123200-81128800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr16:81123200-81129200	Weak transcription	Lung	lung
43	chr16:81123400-81128400	Weak transcription	Adipose Nuclei	Adipose
44	chr16:81123400-81128400	Weak transcription	Fetal Lung	lung
45	chr16:81123400-81128600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr16:81123400-81128600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr16:81123400-81128600	Weak transcription	Fetal Intestine Large	intestine
48	chr16:81123400-81128800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr16:81123600-81128400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr16:81123600-81128400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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