Variant report

Variant	rs12102896
Chromosome Location	chr16:48325662-48325663
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:48323778..48328194-chr16:48330285..48332445,4	K562	blood:
2	chr16:48319533..48322012-chr16:48323897..48325836,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs13335175	1.00[AFR][1000 genomes]
rs13336203	0.86[AFR][1000 genomes]
rs13336441	1.00[AFR][1000 genomes]
rs13336832	1.00[AFR][1000 genomes]
rs28379458	1.00[AFR][1000 genomes]
rs28599555	0.86[AFR][1000 genomes]
rs28848294	1.00[AFR][1000 genomes]
rs9922477	1.00[YRI][hapmap]
rs9926437	1.00[AFR][1000 genomes]
rs9926749	1.00[ASW][hapmap]
rs9928527	1.00[YRI][hapmap]
rs9929780	0.86[AFR][1000 genomes]
rs9931267	1.00[YRI][hapmap]
rs9931866	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs9934175	1.00[ASW][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs9934459	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9936892	1.00[ASW][hapmap]
rs9938115	0.86[AFR][1000 genomes]
rs9938350	1.00[YRI][hapmap]
rs9938594	1.00[AFR][1000 genomes]
rs9940237	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061316	chr16:48264175-48594219	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv1821072	chr16:48268318-48504364	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv833219	chr16:48290595-48459301	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1061708	chr16:48304343-48482594	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv542917	chr16:48304343-48482594	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48305200-48328600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr16:48313600-48331800	Strong transcription	Liver	Liver
3	chr16:48313600-48337200	Weak transcription	Gastric	stomach
4	chr16:48317400-48336400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr16:48319800-48329000	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr16:48321200-48326200	Strong transcription	Fetal Intestine Large	intestine
7	chr16:48321200-48328400	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr16:48321200-48330400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr16:48321200-48336400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr16:48321200-48337200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr16:48321400-48325800	Weak transcription	Stomach Mucosa	stomach
12	chr16:48321400-48329200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr16:48321400-48329400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr16:48321400-48329800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr16:48321400-48330000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr16:48321400-48333000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr16:48321400-48333400	Weak transcription	HSMMtube	muscle
18	chr16:48321400-48335800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr16:48321400-48337800	Weak transcription	Psoas Muscle	Psoas
20	chr16:48321400-48343200	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr16:48321600-48325800	Strong transcription	Dnd41	blood
22	chr16:48321600-48325800	Strong transcription	HepG2	liver
23	chr16:48321600-48326200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr16:48321600-48326400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr16:48321600-48326600	Strong transcription	Primary B cells from peripheral blood	blood
26	chr16:48321600-48329800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr16:48321600-48329800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr16:48321600-48330000	Weak transcription	Fetal Kidney	kidney
29	chr16:48321600-48330800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr16:48321600-48331000	Weak transcription	Thymus	Thymus
31	chr16:48321600-48333600	Weak transcription	Colon Smooth Muscle	Colon
32	chr16:48321600-48335800	Weak transcription	Fetal Heart	heart
33	chr16:48321600-48337000	Weak transcription	Brain Angular Gyrus	brain
34	chr16:48321600-48340400	Strong transcription	Primary T cells from cord blood	blood
35	chr16:48321600-48341600	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr16:48321600-48341800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr16:48321600-48342000	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr16:48321800-48326000	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr16:48321800-48326200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr16:48321800-48326200	Strong transcription	Fetal Lung	lung
41	chr16:48321800-48327000	Strong transcription	GM12878-XiMat	blood
42	chr16:48321800-48328000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr16:48321800-48329800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr16:48321800-48341600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr16:48321800-48344800	Weak transcription	Fetal Brain Male	brain
46	chr16:48322000-48325800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr16:48322000-48329200	Strong transcription	Fetal Muscle Leg	muscle
48	chr16:48322000-48330000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr16:48322200-48327200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr16:48322400-48332400	Strong transcription	Adipose Nuclei	Adipose

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