Variant report

Variant	rs67351735
Chromosome Location	chr12:21599717-21599718
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17681644	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17682270	0.84[AMR][1000 genomes]
rs59663289	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67104487	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7133812	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7304732	0.84[AMR][1000 genomes]
rs73246585	0.84[AMR][1000 genomes]
rs73249910	0.84[AMR][1000 genomes]
rs74067201	0.84[AMR][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	nsv898895	chr12:21561645-21621891	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
2	nsv898896	chr12:21561645-21695584	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1043936	chr12:21562673-21979030	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv976585	chr12:21599522-21601583	Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21591400-21602800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:21591600-21609000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:21591600-21609000	Weak transcription	Brain Angular Gyrus	brain
4	chr12:21591600-21609200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr12:21591800-21600000	Weak transcription	HSMM	muscle
6	chr12:21591800-21601000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:21591800-21609000	Weak transcription	Fetal Heart	heart
8	chr12:21591800-21611000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr12:21591800-21614600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr12:21591800-21614800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:21591800-21621000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr12:21591800-21624200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:21592000-21614200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:21592000-21620600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:21592000-21631000	Weak transcription	Psoas Muscle	Psoas
16	chr12:21592200-21609000	Weak transcription	NH-A	brain
17	chr12:21592200-21609000	Weak transcription	NHDF-Ad	bronchial
18	chr12:21592200-21609200	Weak transcription	Brain Substantia Nigra	brain
19	chr12:21592400-21610400	Weak transcription	NHEK	skin
20	chr12:21592600-21609200	Weak transcription	Small Intestine	intestine
21	chr12:21592800-21631400	Weak transcription	K562	blood
22	chr12:21593400-21604400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:21593400-21606600	Strong transcription	Liver	Liver
24	chr12:21593400-21609000	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr12:21593400-21609000	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr12:21593400-21617800	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr12:21594000-21617600	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr12:21594200-21601600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:21594800-21605800	Strong transcription	Fetal Thymus	thymus
30	chr12:21594800-21613200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:21595200-21608800	Weak transcription	HMEC	breast
32	chr12:21595400-21599800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr12:21595600-21602200	Weak transcription	Osteobl	bone
34	chr12:21595600-21609200	Weak transcription	Colonic Mucosa	Colon
35	chr12:21595600-21626200	Weak transcription	Right Ventricle	heart
36	chr12:21595800-21606400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr12:21595800-21609000	Weak transcription	Brain Germinal Matrix	brain
38	chr12:21595800-21609000	Weak transcription	HSMMtube	muscle
39	chr12:21595800-21609200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr12:21595800-21609200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:21595800-21610400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr12:21595800-21611000	Weak transcription	HepG2	liver
43	chr12:21595800-21624400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr12:21595800-21631400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:21595800-21632600	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr12:21595800-21633200	Weak transcription	Gastric	stomach
47	chr12:21595800-21650000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr12:21596000-21600600	Weak transcription	Esophagus	oesophagus
49	chr12:21596000-21605000	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr12:21596000-21611800	Weak transcription	Aorta	Aorta

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