Variant report

Variant	rs8053040
Chromosome Location	chr16:70366664-70366665
allele	A/T
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70366563..70368241-chr16:70379128..70380680,2	MCF-7	breast:
2	chr16:70365124..70367009-chr16:70367397..70369284,2	K562	blood:
3	chr16:70321837..70323481-chr16:70366163..70367690,2	K562	blood:
4	chr16:70365097..70367956-chr16:70382920..70385112,3	K562	blood:
5	chr16:70333101..70334676-chr16:70365140..70367684,2	MCF-7	breast:
6	chr16:70365572..70369615-chr16:70370399..70374531,4	K562	blood:
7	chr16:70338003..70340478-chr16:70365568..70367994,2	K562	blood:
8	chr16:70320088..70322419-chr16:70366268..70367885,2	K562	blood:
9	chr16:70356920..70359897-chr16:70366133..70369094,2	K562	blood:
10	chr16:70358578..70361707-chr16:70363854..70367652,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261777	Chromatin interaction
ENSG00000157349	Chromatin interaction
ENSG00000090861	Chromatin interaction
ENSG00000260537	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs11537667	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs11859257	0.83[AFR][1000 genomes]
rs11859827	0.96[AFR][1000 genomes]
rs11860870	1.00[YRI][hapmap];0.99[AFR][1000 genomes]
rs11862053	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs11862150	0.85[AFR][1000 genomes]
rs11862188	0.85[AFR][1000 genomes]
rs11864326	0.81[AMR][1000 genomes]
rs11865564	0.81[AMR][1000 genomes]
rs11866378	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs11866451	0.84[AFR][1000 genomes]
rs16970141	0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs16970147	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970149	0.84[YRI][hapmap]
rs16970151	0.82[YRI][hapmap]
rs16970152	0.82[YRI][hapmap]
rs16970153	0.84[YRI][hapmap]
rs16970159	0.90[YRI][hapmap];0.81[AMR][1000 genomes]
rs16970165	0.82[YRI][hapmap]
rs16970169	0.95[YRI][hapmap];0.81[AMR][1000 genomes]
rs16970361	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs16970609	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs17878609	0.81[AMR][1000 genomes]
rs17880268	0.81[AMR][1000 genomes]
rs17886064	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4999488	0.81[AMR][1000 genomes]
rs55657328	0.91[AFR][1000 genomes]
rs55805938	0.93[AFR][1000 genomes]
rs55819743	0.85[AFR][1000 genomes]
rs55936739	0.91[AFR][1000 genomes]
rs56043981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56090000	0.96[AFR][1000 genomes]
rs56096542	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56217164	0.98[AFR][1000 genomes]
rs56234537	0.98[AFR][1000 genomes]
rs56980444	0.89[AMR][1000 genomes]
rs57150196	0.81[AMR][1000 genomes]
rs57279408	0.98[AFR][1000 genomes]
rs57320283	0.84[AFR][1000 genomes]
rs57422630	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57623576	0.98[AFR][1000 genomes]
rs58055772	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58131227	0.89[AFR][1000 genomes]
rs58319566	0.84[AFR][1000 genomes]
rs58328210	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59260159	0.81[AMR][1000 genomes]
rs59384897	0.93[AFR][1000 genomes]
rs59612351	0.86[AFR][1000 genomes]
rs59791510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59849898	0.89[AFR][1000 genomes]
rs59928915	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs60103946	0.89[AFR][1000 genomes]
rs60426209	0.93[AFR][1000 genomes]
rs60523557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60841206	0.84[AFR][1000 genomes]
rs61172065	0.94[AFR][1000 genomes]
rs61266247	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs61319691	0.81[AMR][1000 genomes]
rs61391917	0.98[AFR][1000 genomes]
rs61594809	0.93[AFR][1000 genomes]
rs6499309	0.89[AFR][1000 genomes]
rs6499314	0.90[YRI][hapmap];0.81[AMR][1000 genomes]
rs7184248	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7185665	0.93[AFR][1000 genomes]
rs7186024	0.93[AFR][1000 genomes]
rs7190921	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs7195104	0.84[YRI][hapmap]
rs7195567	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7199346	0.95[YRI][hapmap];0.81[AMR][1000 genomes]
rs7203772	0.82[YRI][hapmap];0.90[AMR][1000 genomes]
rs7204800	0.96[AFR][1000 genomes]
rs7205871	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7205990	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7206347	0.95[YRI][hapmap];0.81[AMR][1000 genomes]
rs74024176	0.83[AFR][1000 genomes]
rs74024180	0.89[AFR][1000 genomes]
rs74024182	0.85[AFR][1000 genomes]
rs74024184	0.91[AFR][1000 genomes]
rs74024185	0.91[AFR][1000 genomes]
rs74024186	0.93[AFR][1000 genomes]
rs74024187	0.93[AFR][1000 genomes]
rs74024191	0.93[AFR][1000 genomes]
rs74024193	0.97[AFR][1000 genomes]
rs74024196	0.98[AFR][1000 genomes]
rs74024199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74026022	0.81[AMR][1000 genomes]
rs74026033	0.81[AMR][1000 genomes]
rs8045571	0.95[YRI][hapmap];0.85[AFR][1000 genomes]
rs8046253	0.81[AMR][1000 genomes]
rs8046280	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8046662	0.95[YRI][hapmap];0.87[AFR][1000 genomes]
rs8049046	0.91[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8050252	0.81[AMR][1000 genomes]
rs8051869	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8053657	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs8053883	0.81[YRI][hapmap]
rs8056811	0.81[AMR][1000 genomes]
rs8062602	0.81[AMR][1000 genomes]
rs8063749	1.00[YRI][hapmap];0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906871	chr16:70302333-70375873	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv482577	chr16:70329048-70516069	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
3	esv3390669	chr16:70363244-70400179	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv977994	chr16:70363419-70367494	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70333800-70367800	Weak transcription	Small Intestine	intestine
2	chr16:70334000-70368400	Weak transcription	Fetal Heart	heart
3	chr16:70334200-70379800	Weak transcription	Stomach Mucosa	stomach
4	chr16:70335800-70374200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr16:70339200-70367600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr16:70339400-70367400	Weak transcription	HMEC	breast
7	chr16:70346200-70367600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr16:70346200-70376000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:70346400-70369600	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr16:70347400-70371000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr16:70348200-70367800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:70348200-70371000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr16:70348400-70371000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr16:70348800-70370600	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr16:70348800-70371000	Strong transcription	Liver	Liver
16	chr16:70349400-70369400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr16:70349400-70370600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr16:70349400-70371200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr16:70349400-70372000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr16:70349600-70379800	Weak transcription	Fetal Brain Male	brain
21	chr16:70349800-70367600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr16:70349800-70370400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr16:70349800-70372600	Strong transcription	Fetal Muscle Trunk	muscle
24	chr16:70349800-70373200	Strong transcription	Fetal Stomach	stomach
25	chr16:70349800-70374600	Strong transcription	Fetal Muscle Leg	muscle
26	chr16:70350600-70369800	Strong transcription	Fetal Brain Female	brain
27	chr16:70351800-70367800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr16:70351800-70367800	Weak transcription	NH-A	brain
29	chr16:70352800-70373000	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr16:70356600-70370600	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr16:70356800-70370200	Strong transcription	Placenta	Placenta
32	chr16:70357200-70380200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr16:70357800-70370200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr16:70358000-70367400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr16:70359000-70370000	Strong transcription	Primary B cells from peripheral blood	blood
36	chr16:70359000-70370800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr16:70360000-70367400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr16:70360000-70367600	Weak transcription	Primary B cells from cord blood	blood
39	chr16:70360000-70367800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr16:70360000-70367800	Weak transcription	HSMMtube	muscle
41	chr16:70360000-70371000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr16:70360000-70373000	Strong transcription	Fetal Intestine Small	intestine
43	chr16:70360200-70367600	Weak transcription	HSMM	muscle
44	chr16:70360200-70367600	Weak transcription	NHDF-Ad	bronchial
45	chr16:70361000-70369600	Strong transcription	Fetal Intestine Large	intestine
46	chr16:70361200-70369200	Strong transcription	HepG2	liver
47	chr16:70361200-70369400	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr16:70361400-70369800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr16:70361400-70369800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr16:70362600-70369400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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