Variant report

Variant	rs60817340
Chromosome Location	chr16:70818733-70818734
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70816723..70818886-chr16:70819584..70821146,2	K562	blood:
2	chr16:70813607..70816328-chr16:70818266..70819889,2	MCF-7	breast:
3	chr16:70816284..70818886-chr16:70819423..70821146,3	K562	blood:
4	chr16:70812401..70816023-chr16:70816890..70820211,3	K562	blood:
5	chr16:70743887..70745684-chr16:70816218..70818964,2	K562	blood:
6	chr16:70811606..70813123-chr16:70816313..70818760,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000103043	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11862431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970543	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56727114	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61075342	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61747638	0.83[AFR][1000 genomes]
rs7185218	0.95[AFR][1000 genomes]
rs7199602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1061191	chr16:70754975-71201367	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	nsv1059478	chr16:70773597-71237055	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
6	esv2758429	chr16:70807122-71316983	Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	esv2758653	chr16:70807122-71316983	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
8	nsv916160	chr16:70809280-71120138	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70781200-70826800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr16:70785000-70825000	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr16:70785800-70828000	Strong transcription	Primary T cells from cord blood	blood
4	chr16:70788000-70826600	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr16:70799200-70824000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr16:70802400-70825000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr16:70805200-70834000	Weak transcription	Fetal Heart	heart
8	chr16:70807400-70833800	Weak transcription	Fetal Brain Male	brain
9	chr16:70808200-70822400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr16:70809000-70820400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr16:70809200-70820800	Strong transcription	Brain Inferior Temporal Lobe	brain
12	chr16:70809800-70820600	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr16:70811000-70820200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr16:70811000-70820200	Strong transcription	Brain Hippocampus Middle	brain
15	chr16:70811000-70820400	Strong transcription	Liver	Liver
16	chr16:70811000-70821400	Strong transcription	Primary B cells from peripheral blood	blood
17	chr16:70811000-70822800	Strong transcription	Fetal Intestine Large	intestine
18	chr16:70811000-70823000	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr16:70811200-70820800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr16:70811200-70821000	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr16:70811200-70821200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
22	chr16:70811200-70822600	Strong transcription	Fetal Thymus	thymus
23	chr16:70811200-70823000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr16:70811400-70820400	Strong transcription	Brain Angular Gyrus	brain
25	chr16:70811400-70820400	Strong transcription	Brain Anterior Caudate	brain
26	chr16:70811400-70820400	Strong transcription	Left Ventricle	heart
27	chr16:70811400-70820600	Strong transcription	Gastric	stomach
28	chr16:70811400-70820800	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr16:70811400-70823200	Strong transcription	Duodenum Mucosa	Duodenum
30	chr16:70811400-70827600	Strong transcription	Primary B cells from cord blood	blood
31	chr16:70811600-70820200	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr16:70811600-70822000	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr16:70812600-70821200	Strong transcription	Adipose Nuclei	Adipose
34	chr16:70812600-70822200	Strong transcription	Brain Germinal Matrix	brain
35	chr16:70812800-70820200	Strong transcription	Fetal Brain Female	brain
36	chr16:70813000-70819200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr16:70813000-70819800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr16:70813200-70820600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr16:70813200-70823000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr16:70813400-70819400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
41	chr16:70813400-70822200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr16:70813400-70822400	Strong transcription	Fetal Stomach	stomach
43	chr16:70813600-70820200	Strong transcription	Rectal Smooth Muscle	rectum
44	chr16:70813600-70820400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr16:70813600-70820800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr16:70813600-70821200	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr16:70813600-70822800	Strong transcription	Stomach Smooth Muscle	stomach
48	chr16:70813600-70827400	Strong transcription	HepG2	liver
49	chr16:70813800-70819400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
50	chr16:70813800-70820200	Strong transcription	A549	lung

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