Variant report

Variant	rs2288049
Chromosome Location	chr16:71320690-71320691
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12599703	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13331374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13336846	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13338238	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13339038	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16970994	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2303257	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs2356390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs28409681	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28461749	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28674007	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2883928	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55688282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55779746	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55918823	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61158660	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61558847	0.80[ASN][1000 genomes]
rs6499496	0.89[CEU][hapmap]
rs66561786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66678374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs68064946	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7184104	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7184118	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs767647	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8055025	0.81[YRI][hapmap]
rs8057700	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9921298	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9924119	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9927853	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][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	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv482374	chr16:71228600-71401617	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1062426	chr16:71307180-71423400	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71306600-71322600	Weak transcription	Small Intestine	intestine
2	chr16:71315400-71321800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:71315800-71322000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr16:71315800-71322200	Weak transcription	Right Ventricle	heart
5	chr16:71316200-71321000	Strong transcription	HSMM	muscle
6	chr16:71316200-71321400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr16:71316200-71321600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr16:71316600-71321000	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr16:71316600-71322000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr16:71316600-71322600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr16:71316800-71321000	Strong transcription	Primary B cells from cord blood	blood
12	chr16:71316800-71321000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr16:71316800-71321000	Strong transcription	Left Ventricle	heart
14	chr16:71316800-71321400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr16:71316800-71321600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr16:71316800-71322000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr16:71316800-71322400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr16:71317000-71320800	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr16:71317000-71321000	ZNF genes & repeats	Primary T cells from cord blood	blood
20	chr16:71317000-71321000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr16:71317000-71321000	Strong transcription	Brain Anterior Caudate	brain
22	chr16:71317000-71321000	Strong transcription	Placenta	Placenta
23	chr16:71317000-71321200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr16:71317000-71321200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr16:71317000-71321200	Strong transcription	Liver	Liver
26	chr16:71317000-71321200	Strong transcription	Fetal Muscle Trunk	muscle
27	chr16:71317000-71321400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr16:71317000-71322000	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr16:71317200-71320800	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr16:71317200-71320800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr16:71317200-71320800	Strong transcription	Fetal Intestine Large	intestine
32	chr16:71317200-71320800	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr16:71317200-71321200	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr16:71317400-71320800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr16:71317400-71320800	Strong transcription	NH-A	brain
36	chr16:71317400-71321600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr16:71317400-71322000	Weak transcription	Colonic Mucosa	Colon
38	chr16:71317600-71320800	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr16:71317600-71321000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr16:71317600-71321000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr16:71317600-71321800	Weak transcription	Brain Angular Gyrus	brain
42	chr16:71317800-71320800	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr16:71317800-71321000	Strong transcription	NHDF-Ad	bronchial
44	chr16:71318000-71321000	Strong transcription	Adipose Nuclei	Adipose
45	chr16:71318200-71320800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr16:71318200-71322000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr16:71318600-71321000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr16:71318600-71321000	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr16:71318800-71320800	Genic enhancers	Dnd41	blood
50	chr16:71318800-71321000	Strong transcription	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links