Variant report

Variant	rs16923356
Chromosome Location	chr9:5688995-5688996
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	chr9:5688845..5691977-chr9:5694760..5697684,3	K562	blood:
2	chr9:5628516..5630155-chr9:5687414..5689446,2	K562	blood:

Variant related genes	Relation type
ENSG00000107036	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1260130	1.00[MEX][hapmap]
rs16923361	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs16923368	0.83[LWK][hapmap];1.00[YRI][hapmap]
rs16923371	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs1776008	1.00[MEX][hapmap]
rs2797512	1.00[MEX][hapmap]
rs56945793	0.89[AFR][1000 genomes]
rs57286098	1.00[AMR][1000 genomes]
rs57943209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59250520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60701273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60806621	0.84[AFR][1000 genomes]
rs60971063	0.89[AFR][1000 genomes]
rs61063962	0.89[AFR][1000 genomes]
rs726052	1.00[YRI][hapmap];0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017126	chr9:5117847-5695486	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv539964	chr9:5117847-5695486	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv949627	chr9:5174829-5712626	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv1017103	chr9:5509431-5987907	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv539965	chr9:5509431-5987907	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv1019444	chr9:5598677-5807009	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv892151	chr9:5602528-5841438	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv892152	chr9:5631097-5719116	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:5666200-5715800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr9:5666400-5710400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr9:5666800-5694200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr9:5672200-5702800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr9:5672400-5716800	Weak transcription	Thymus	Thymus
6	chr9:5673000-5706800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr9:5675000-5699000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr9:5675200-5708600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr9:5677000-5707600	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr9:5681800-5698200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr9:5683000-5742000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr9:5684000-5721400	Weak transcription	Pancreas	Pancrea
13	chr9:5684200-5701000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr9:5684200-5702800	Weak transcription	Fetal Intestine Small	intestine
15	chr9:5684200-5708200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr9:5684400-5689600	Weak transcription	HepG2	liver
17	chr9:5684400-5690000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr9:5684400-5690200	Weak transcription	HSMM	muscle
19	chr9:5684400-5693000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr9:5684400-5696200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr9:5684400-5698800	Weak transcription	HMEC	breast
22	chr9:5684400-5698800	Weak transcription	NHDF-Ad	bronchial
23	chr9:5684400-5700600	Weak transcription	Primary B cells from cord blood	blood
24	chr9:5684400-5720200	Weak transcription	NHEK	skin
25	chr9:5684600-5708600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr9:5684800-5696400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr9:5684800-5721000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr9:5685000-5702600	Weak transcription	Primary T cells from cord blood	blood
29	chr9:5685000-5703800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr9:5685200-5694000	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr9:5685200-5701800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr9:5687000-5704000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr9:5687600-5689000	Enhancers	HUVEC	blood vessel
34	chr9:5688000-5689000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr9:5688000-5689000	Enhancers	Fetal Kidney	kidney
36	chr9:5688200-5689000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr9:5688200-5689000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr9:5688200-5689000	Enhancers	Ovary	ovary
39	chr9:5688200-5689000	Enhancers	Osteobl	bone
40	chr9:5688400-5689000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr9:5688400-5694000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr9:5688400-5694000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr9:5688400-5697200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr9:5688400-5697400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr9:5688400-5702200	Weak transcription	Left Ventricle	heart
46	chr9:5688400-5710000	Weak transcription	Fetal Thymus	thymus
47	chr9:5688600-5689000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr9:5688600-5696400	Weak transcription	A549	lung
49	chr9:5688600-5696400	Weak transcription	GM12878-XiMat	blood
50	chr9:5688600-5696800	Weak transcription	Brain Inferior Temporal Lobe	brain

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