Variant report

Variant	rs16931634
Chromosome Location	chr12:4791842-4791843
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10849132	1.00[JPT][hapmap]
rs10849135	1.00[JPT][hapmap]
rs11063325	1.00[JPT][hapmap]
rs11063330	1.00[JPT][hapmap]
rs11831080	1.00[JPT][hapmap]
rs12367189	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16931651	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1860346	1.00[JPT][hapmap]
rs57474588	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7302268	1.00[CHB][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1036308	chr12:4748657-4804156	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs16931634	WNK1	cis	parietal	SCAN
rs16931634	GNB3	cis	parietal	SCAN
rs16931634	ING4	cis	parietal	SCAN
rs16931634	GNB3	cis	cerebellum	SCAN
rs16931634	NDUFA9	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4759000-4799400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:4773800-4794800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:4778800-4794400	Weak transcription	Small Intestine	intestine
4	chr12:4778800-4796000	Weak transcription	NHEK	skin
5	chr12:4779000-4792600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:4779000-4799000	Weak transcription	Stomach Mucosa	stomach
7	chr12:4779600-4801800	Weak transcription	K562	blood
8	chr12:4780200-4792000	Weak transcription	NHLF	lung
9	chr12:4780200-4792600	Weak transcription	Fetal Brain Male	brain
10	chr12:4780200-4809200	Weak transcription	Fetal Heart	heart
11	chr12:4780400-4792600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr12:4780600-4799000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr12:4781200-4792400	Weak transcription	A549	lung
14	chr12:4781200-4794800	Weak transcription	NH-A	brain
15	chr12:4781400-4794600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr12:4782000-4796800	Weak transcription	Fetal Kidney	kidney
17	chr12:4782200-4792000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:4782200-4792000	Weak transcription	Psoas Muscle	Psoas
19	chr12:4782200-4794200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:4782200-4796200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr12:4782200-4803200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:4782400-4792000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:4782400-4792000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:4782400-4796600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:4787800-4810800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:4788600-4804400	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr12:4788800-4800800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:4789000-4798200	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr12:4789200-4799600	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr12:4789600-4792400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr12:4789600-4793400	Weak transcription	Colon Smooth Muscle	Colon
32	chr12:4789600-4799400	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr12:4789600-4800200	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr12:4789600-4800600	Strong transcription	Fetal Brain Female	brain
35	chr12:4790600-4798000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:4791000-4792000	Strong transcription	NHDF-Ad	bronchial
37	chr12:4791000-4792800	Strong transcription	HUVEC	blood vessel
38	chr12:4791000-4795600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:4791000-4796200	Strong transcription	HMEC	breast
40	chr12:4791000-4797400	Strong transcription	GM12878-XiMat	blood
41	chr12:4791000-4798000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr12:4791000-4798000	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr12:4791000-4798200	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr12:4791000-4798200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:4791000-4798200	Strong transcription	Placenta	Placenta
46	chr12:4791000-4798400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:4791000-4798400	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr12:4791000-4798400	Strong transcription	Adipose Nuclei	Adipose
49	chr12:4791000-4798400	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr12:4791000-4798600	Strong transcription	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links