Variant report

Variant	rs1463286
Chromosome Location	chr16:81043485-81043486
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81038105..81044923-chr16:81066300..81070952,14	MCF-7	breast:
2	chr16:81037151..81044642-chr16:81065528..81070966,16	K562	blood:
3	chr16:81028135..81034571-chr16:81035246..81044200,13	K562	blood:
4	chr16:81042328..81045873-chr16:81053654..81056834,3	MCF-7	breast:
5	chr16:81037996..81043724-chr16:81066407..81071400,11	MCF-7	breast:
6	chr16:81023827..81025532-chr16:81042311..81045114,2	K562	blood:
7	chr16:81037094..81043910-chr16:81050858..81058489,11	MCF-7	breast:
8	chr16:81041089..81043936-chr16:81047527..81050670,4	MCF-7	breast:
9	chr16:81043453..81045106-chr16:81060725..81063706,2	MCF-7	breast:
10	chr16:81041904..81044341-chr16:81779163..81781549,2	MCF-7	breast:
11	chr16:81039722..81044457-chr16:81106699..81112118,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166451	Chromatin interaction
ENSG00000166454	Chromatin interaction
ENSG00000103121	Chromatin interaction
ENSG00000260213	Chromatin interaction
ENSG00000245059	Chromatin interaction
ENSG00000166455	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12917718	1.00[AMR][1000 genomes]
rs2084960	1.00[AMR][1000 genomes]
rs2084961	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2084962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2317088	1.00[AMR][1000 genomes]
rs2549851	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2602422	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2602445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2911153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2911154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35109118	1.00[AMR][1000 genomes]
rs4888119	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889238	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55735411	1.00[AMR][1000 genomes]
rs6564817	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6564823	1.00[AMR][1000 genomes]
rs7193361	1.00[AMR][1000 genomes]
rs74028849	1.00[AMR][1000 genomes]
rs804884	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs804891	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8050760	1.00[AMR][1000 genomes]
rs935939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs935940	1.00[AFR][1000 genomes];1.00[AMR][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:117 , 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	chr16:81042000-81045600	Weak transcription	Liver	Liver
6	chr16:81042000-81046200	Weak transcription	Brain Substantia Nigra	brain
7	chr16:81042000-81046200	Weak transcription	Right Atrium	heart
8	chr16:81042000-81047000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr16:81042000-81047400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr16:81042000-81047800	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr16:81042000-81047800	Weak transcription	Aorta	Aorta
12	chr16:81042000-81047800	Weak transcription	Right Ventricle	heart
13	chr16:81042000-81048000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr16:81042000-81048200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr16:81042000-81048200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr16:81042000-81053000	Weak transcription	Brain Angular Gyrus	brain
17	chr16:81042000-81053600	Weak transcription	HSMMtube	muscle
18	chr16:81042000-81054400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr16:81042000-81054800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr16:81042000-81057600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr16:81042000-81058400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr16:81042000-81069000	Weak transcription	Esophagus	oesophagus
23	chr16:81042000-81069000	Weak transcription	Pancreas	Pancrea
24	chr16:81042000-81069600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr16:81042200-81044000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr16:81042200-81044400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr16:81042200-81044600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr16:81042200-81044600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr16:81042200-81044800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr16:81042200-81044800	Weak transcription	Fetal Intestine Large	intestine
31	chr16:81042200-81045400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr16:81042200-81045400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr16:81042200-81045600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr16:81042200-81046200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr16:81042200-81046600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr16:81042200-81046600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr16:81042200-81046600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr16:81042200-81046600	Weak transcription	Fetal Kidney	kidney
39	chr16:81042200-81046600	Weak transcription	NH-A	brain
40	chr16:81042200-81046800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr16:81042200-81046800	Weak transcription	Primary T cells from cord blood	blood
42	chr16:81042200-81046800	Weak transcription	Adipose Nuclei	Adipose
43	chr16:81042200-81046800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr16:81042200-81046800	Weak transcription	Fetal Intestine Small	intestine
45	chr16:81042200-81046800	Weak transcription	Fetal Stomach	stomach
46	chr16:81042200-81046800	Weak transcription	Left Ventricle	heart
47	chr16:81042200-81047000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr16:81042200-81047000	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr16:81042200-81047000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr16:81042200-81047000	Weak transcription	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links