Variant report

Variant	rs16889143
Chromosome Location	chr6:36757183-36757184
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	chr6:36735042..36738016-chr6:36756015..36758776,2	K562	blood:
2	chr6:36746005..36749095-chr6:36753090..36757403,5	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs236408	0.82[ASW][hapmap];0.81[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59805048	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6936372	1.00[CEU][hapmap]
rs7742104	1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][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	nsv1023171	chr6:36686935-36880899	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv538202	chr6:36686935-36880899	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1033261	chr6:36687424-36837315	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv5261	chr6:36754545-36798824	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Active TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	nsv818413	chr6:36755402-36759768	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs16889143	KCNJ16	trans	brain	seeQTL
rs16889143	CAPS	trans	brain	seeQTL
rs16889143	KANK4	trans	brain	seeQTL
rs16889143	GBP4	trans	brain	seeQTL

Chromatin state (count:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36752600-36768400	Weak transcription	Right Atrium	heart
2	chr6:36755600-36757800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:36755800-36757600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr6:36756000-36757200	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr6:36756000-36757200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:36756000-36757600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:36756000-36757600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:36756000-36758200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:36756200-36757200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:36756200-36757200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:36756200-36757200	Enhancers	Brain Angular Gyrus	brain
12	chr6:36756200-36757200	Enhancers	Brain Anterior Caudate	brain
13	chr6:36756200-36757400	Enhancers	Brain Hippocampus Middle	brain
14	chr6:36756200-36757600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr6:36756200-36757600	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr6:36756200-36757800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr6:36756200-36757800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:36756200-36757800	Enhancers	Brain Cingulate Gyrus	brain
19	chr6:36756200-36759200	Weak transcription	Brain Germinal Matrix	brain
20	chr6:36756400-36757200	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr6:36756400-36757200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr6:36756400-36757200	Enhancers	Fetal Kidney	kidney
23	chr6:36756400-36757400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr6:36756400-36757600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr6:36756400-36757600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr6:36756400-36757600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr6:36756400-36757600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr6:36756400-36757600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr6:36756400-36757600	Enhancers	Fetal Stomach	stomach
30	chr6:36756400-36757800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr6:36756400-36757800	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr6:36756600-36757200	Enhancers	Primary T cells from cord blood	blood
33	chr6:36756600-36757600	Enhancers	H9 Cell Line	embryonic stem cell
34	chr6:36756600-36757600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr6:36756600-36757800	Enhancers	H1 Cell Line	embryonic stem cell
36	chr6:36756600-36757800	Enhancers	Fetal Brain Male	brain
37	chr6:36756800-36757200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:36756800-36757200	Enhancers	Brain Substantia Nigra	brain
39	chr6:36756800-36757200	Enhancers	HUVEC	blood vessel
40	chr6:36756800-36757600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr6:36756800-36757800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr6:36756800-36757800	Enhancers	Fetal Lung	lung
43	chr6:36756800-36758400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr6:36757000-36757200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:36757000-36757200	Bivalent Enhancer	Fetal Thymus	thymus
46	chr6:36757000-36757600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr6:36757000-36757600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr6:36757000-36757600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr6:36757000-36757600	Enhancers	Placenta	Placenta
50	chr6:36757000-36757800	Enhancers	Ovary	ovary

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