Variant report

Variant	rs16906678
Chromosome Location	chr12:30839143-30839144
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:30794674..30797309-chr12:30838557..30840945,2	K562	blood:
2	chr12:30832436..30834372-chr12:30837457..30839849,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12370947	1.00[YRI][hapmap]
rs16906667	1.00[AMR][1000 genomes]
rs16906676	1.00[AMR][1000 genomes]
rs16906714	1.00[AMR][1000 genomes]
rs3850962	1.00[AMR][1000 genomes]
rs3850963	1.00[AMR][1000 genomes]
rs59463115	1.00[AMR][1000 genomes]
rs59551332	1.00[AMR][1000 genomes]
rs60389639	1.00[AMR][1000 genomes]
rs60547392	1.00[AMR][1000 genomes]
rs61297171	1.00[AMR][1000 genomes]
rs7137533	1.00[AMR][1000 genomes]
rs7962702	1.00[AMR][1000 genomes]
rs7962737	0.92[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7962761	1.00[AMR][1000 genomes]
rs7968828	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7971480	1.00[AMR][1000 genomes]
rs7973128	0.83[AFR][1000 genomes]
rs7974821	1.00[AMR][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	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832361	chr12:30794030-30997241	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30767000-30844200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:30780800-30847000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:30785000-30847800	Weak transcription	Gastric	stomach
4	chr12:30785200-30846400	Weak transcription	Spleen	Spleen
5	chr12:30785400-30847200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:30808600-30839200	Strong transcription	Liver	Liver
7	chr12:30810800-30843200	Strong transcription	Dnd41	blood
8	chr12:30810800-30843800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr12:30811000-30844200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:30812600-30844200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:30813000-30839400	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr12:30813200-30844200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:30813600-30844200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:30815400-30845800	Weak transcription	Fetal Brain Male	brain
15	chr12:30816200-30844000	Weak transcription	NHEK	skin
16	chr12:30816400-30844200	Weak transcription	NHLF	lung
17	chr12:30821600-30844200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr12:30821800-30847200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:30821800-30847400	Weak transcription	Lung	lung
20	chr12:30822000-30846600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr12:30822600-30843800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr12:30822600-30845600	Weak transcription	Right Ventricle	heart
23	chr12:30822600-30846400	Weak transcription	Esophagus	oesophagus
24	chr12:30822600-30847400	Weak transcription	Aorta	Aorta
25	chr12:30822800-30839200	Weak transcription	Psoas Muscle	Psoas
26	chr12:30822800-30844200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:30825000-30839600	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr12:30826000-30845600	Weak transcription	Brain Germinal Matrix	brain
29	chr12:30827000-30847000	Weak transcription	Colonic Mucosa	Colon
30	chr12:30827800-30844200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr12:30828200-30844200	Weak transcription	K562	blood
32	chr12:30829200-30844200	Weak transcription	Pancreas	Pancrea
33	chr12:30829600-30844200	Weak transcription	Small Intestine	intestine
34	chr12:30830200-30840600	Weak transcription	Brain Angular Gyrus	brain
35	chr12:30830400-30844000	Weak transcription	HMEC	breast
36	chr12:30830400-30844200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr12:30830400-30846600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:30830600-30843000	Weak transcription	HSMMtube	muscle
39	chr12:30830800-30839400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr12:30831800-30844200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:30831800-30845600	Weak transcription	Brain Substantia Nigra	brain
42	chr12:30831800-30845600	Weak transcription	Rectal Smooth Muscle	rectum
43	chr12:30831800-30846400	Weak transcription	Thymus	Thymus
44	chr12:30831800-30846600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:30831800-30846800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr12:30832000-30839200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:30832000-30844200	Weak transcription	Left Ventricle	heart
48	chr12:30832000-30844200	Weak transcription	Ovary	ovary
49	chr12:30832200-30840200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:30832200-30840200	Weak transcription	Osteobl	bone

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