Variant report

Variant	rs74031241
Chromosome Location	chr16:81732380-81732381
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	chr16:81731022..81732663-chr16:81734009..81736117,2	K562	blood:
2	chr16:81732199..81735143-chr16:81738317..81740566,2	K562	blood:
3	chr16:81732199..81734090-chr16:81737270..81739817,2	K562	blood:
4	chr16:81435943..81438207-chr16:81730859..81732900,2	MCF-7	breast:
5	chr16:81606753..81608792-chr16:81731743..81734236,2	MCF-7	breast:
6	chr16:81730274..81732700-chr16:81737067..81739760,2	MCF-7	breast:
7	chr16:81730936..81733026-chr16:81743181..81745537,2	K562	blood:
8	chr16:81730757..81732987-chr16:81738352..81740599,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000153815	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11150400	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11641014	0.95[ASN][1000 genomes]
rs11642818	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11644560	0.91[ASN][1000 genomes]
rs11646472	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11647444	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2317497	0.94[ASN][1000 genomes]
rs2873480	0.97[ASN][1000 genomes]
rs3751857	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4281702	0.94[ASN][1000 genomes]
rs4421970	0.92[ASN][1000 genomes]
rs4423411	0.92[ASN][1000 genomes]
rs4888165	0.97[ASN][1000 genomes]
rs4888167	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4889363	0.82[ASN][1000 genomes]
rs4889364	0.95[ASN][1000 genomes]
rs4889365	0.95[ASN][1000 genomes]
rs4889366	0.92[ASN][1000 genomes]
rs55669104	0.89[ASN][1000 genomes]
rs57869567	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60107344	0.95[ASN][1000 genomes]
rs68056614	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72831113	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs74031237	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs753108	0.92[ASN][1000 genomes]
rs8055386	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
2	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
3	nsv907011	chr16:81639190-81757252	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 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	chr16:81688400-81736800	Weak transcription	NHDF-Ad	bronchial
2	chr16:81713200-81740600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr16:81713200-81744400	Weak transcription	Fetal Kidney	kidney
4	chr16:81721800-81748400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr16:81722000-81738400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr16:81724000-81743400	Strong transcription	HepG2	liver
7	chr16:81724400-81745800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr16:81724600-81733000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr16:81724600-81734000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr16:81724600-81743400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr16:81724600-81746000	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr16:81724800-81736400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr16:81724800-81740600	Strong transcription	Gastric	stomach
14	chr16:81724800-81741400	Strong transcription	Liver	Liver
15	chr16:81724800-81743200	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr16:81724800-81743400	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr16:81724800-81743400	Strong transcription	Primary B cells from peripheral blood	blood
18	chr16:81724800-81743400	Strong transcription	Dnd41	blood
19	chr16:81724800-81744400	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr16:81724800-81744600	Strong transcription	Primary T cells from cord blood	blood
21	chr16:81725000-81733200	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr16:81725000-81744400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr16:81725000-81744600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr16:81725000-81746000	Strong transcription	Thymus	Thymus
25	chr16:81725200-81743200	Strong transcription	Primary B cells from cord blood	blood
26	chr16:81725600-81739600	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr16:81725600-81741200	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr16:81725800-81748200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr16:81726000-81732400	Genic enhancers	Fetal Muscle Leg	muscle
30	chr16:81726000-81732400	Genic enhancers	Fetal Stomach	stomach
31	chr16:81726000-81733800	Enhancers	Fetal Brain Male	brain
32	chr16:81726400-81732800	Genic enhancers	Fetal Lung	lung
33	chr16:81727200-81740600	Weak transcription	Hela-S3	cervix
34	chr16:81727800-81732400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr16:81727800-81732800	Genic enhancers	Fetal Thymus	thymus
36	chr16:81727800-81736800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr16:81728000-81733800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr16:81728000-81735000	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr16:81728000-81738000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr16:81728000-81738600	Weak transcription	Aorta	Aorta
41	chr16:81728000-81741000	Strong transcription	Placenta	Placenta
42	chr16:81728200-81732400	Enhancers	Brain Angular Gyrus	brain
43	chr16:81728200-81732400	Enhancers	Brain Cingulate Gyrus	brain
44	chr16:81728200-81732800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr16:81728200-81734600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr16:81728200-81736800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr16:81728200-81738400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr16:81728400-81732800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr16:81728800-81733800	Weak transcription	Small Intestine	intestine
50	chr16:81729000-81735600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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