Variant report

Variant	rs58592676
Chromosome Location	chr16:70365855-70365856
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70365124..70367009-chr16:70367397..70369284,2	K562	blood:
2	chr16:70365097..70367956-chr16:70382920..70385112,3	K562	blood:
3	chr16:70333101..70334676-chr16:70365140..70367684,2	MCF-7	breast:
4	chr16:70365572..70369615-chr16:70370399..70374531,4	K562	blood:
5	chr16:70364102..70366130-chr16:70379231..70382207,2	MCF-7	breast:
6	chr16:70338003..70340478-chr16:70365568..70367994,2	K562	blood:
7	chr16:70358578..70361707-chr16:70363854..70367652,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260537	Chromatin interaction
ENSG00000157349	Chromatin interaction
ENSG00000168872	Chromatin interaction
ENSG00000261777	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11860625	1.00[AMR][1000 genomes]
rs17879102	1.00[AMR][1000 genomes]
rs17879684	1.00[AMR][1000 genomes]
rs17879964	1.00[AMR][1000 genomes]
rs17882414	1.00[AMR][1000 genomes]
rs17885495	1.00[AMR][1000 genomes]
rs17886996	1.00[AMR][1000 genomes]
rs55683684	0.96[AFR][1000 genomes]
rs55693362	0.98[AFR][1000 genomes]
rs56331609	1.00[AMR][1000 genomes]
rs57326693	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57525508	0.85[AMR][1000 genomes]
rs58575154	0.96[AFR][1000 genomes]
rs60165217	0.96[AFR][1000 genomes]
rs60939494	0.85[AMR][1000 genomes]
rs61466321	0.94[AFR][1000 genomes]
rs61610761	1.00[AMR][1000 genomes]
rs74024201	0.83[AMR][1000 genomes]
rs74026021	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74026023	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74026025	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74026029	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74026046	1.00[AMR][1000 genomes]
rs74026048	1.00[AMR][1000 genomes]
rs8049316	1.00[AMR][1000 genomes]
rs8063675	0.96[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	chr16:70335800-70366400	Weak transcription	Psoas Muscle	Psoas
5	chr16:70335800-70374200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr16:70339000-70366400	Weak transcription	K562	blood
7	chr16:70339200-70367600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr16:70339400-70367400	Weak transcription	HMEC	breast
9	chr16:70345600-70366600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr16:70346200-70367600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr16:70346200-70376000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:70346400-70369600	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr16:70347400-70371000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr16:70348200-70367800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr16:70348200-70371000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr16:70348400-70371000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr16:70348800-70370600	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr16:70348800-70371000	Strong transcription	Liver	Liver
19	chr16:70349400-70369400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr16:70349400-70370600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr16:70349400-70371200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr16:70349400-70372000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr16:70349600-70379800	Weak transcription	Fetal Brain Male	brain
24	chr16:70349800-70367600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr16:70349800-70370400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr16:70349800-70372600	Strong transcription	Fetal Muscle Trunk	muscle
27	chr16:70349800-70373200	Strong transcription	Fetal Stomach	stomach
28	chr16:70349800-70374600	Strong transcription	Fetal Muscle Leg	muscle
29	chr16:70350600-70369800	Strong transcription	Fetal Brain Female	brain
30	chr16:70351800-70367800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr16:70351800-70367800	Weak transcription	NH-A	brain
32	chr16:70352000-70366000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr16:70352800-70373000	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr16:70356600-70370600	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr16:70356800-70370200	Strong transcription	Placenta	Placenta
36	chr16:70357200-70380200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr16:70357800-70370200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr16:70358000-70367400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr16:70359000-70370000	Strong transcription	Primary B cells from peripheral blood	blood
40	chr16:70359000-70370800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr16:70359200-70366600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr16:70360000-70366600	Weak transcription	GM12878-XiMat	blood
43	chr16:70360000-70367400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr16:70360000-70367600	Weak transcription	Primary B cells from cord blood	blood
45	chr16:70360000-70367800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr16:70360000-70367800	Weak transcription	HSMMtube	muscle
47	chr16:70360000-70371000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr16:70360000-70373000	Strong transcription	Fetal Intestine Small	intestine
49	chr16:70360200-70366400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr16:70360200-70367600	Weak transcription	HSMM	muscle

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