Variant report

Variant	rs9323706
Chromosome Location	chr14:81986805-81986806
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81986696..81988883-chr14:81993089..81994792,2	K562	blood:
2	chr14:81984391..81988174-chr14:81996632..82001032,4	K562	blood:
3	chr14:81985780..81987427-chr14:81998702..82001494,2	MCF-7	breast:
4	chr14:81985785..81988499-chr14:81997621..82000387,4	MCF-7	breast:
5	chr14:81983633..81985661-chr14:81986464..81988469,3	K562	blood:

Variant related genes	Relation type
ENSG00000071537	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10047898	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10131720	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10132734	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10137272	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10142746	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10145556	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10150824	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17115576	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28495615	0.95[AFR][1000 genomes]
rs28502051	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56943057	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61404288	1.00[EUR][1000 genomes]
rs73346179	1.00[EUR][1000 genomes]
rs8012824	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047694	chr14:81831147-82534026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats 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	nsv542145	chr14:81831147-82534026	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats 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	18 gene(s)	inside rSNPs	diseases
3	nsv902120	chr14:81953242-82067555	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv565299	chr14:81983027-82586324	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81967600-81999600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:81972600-81987000	Weak transcription	NH-A	brain
3	chr14:81972600-81989800	Weak transcription	HMEC	breast
4	chr14:81973800-81988800	Weak transcription	Spleen	Spleen
5	chr14:81973800-81999400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:81973800-81999400	Weak transcription	Esophagus	oesophagus
7	chr14:81974800-81998200	Weak transcription	Fetal Brain Male	brain
8	chr14:81980800-81991600	Strong transcription	Fetal Brain Female	brain
9	chr14:81981200-81999400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr14:81981600-81987400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr14:81982400-81988800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:81982400-81993600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr14:81982600-81991600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:81982800-81987600	Enhancers	Rectal Smooth Muscle	rectum
15	chr14:81983000-81993600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:81983200-81987000	Enhancers	Adipose Nuclei	Adipose
17	chr14:81983200-81993600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:81983200-81999400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:81983400-81987000	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr14:81983600-81987000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr14:81983600-81987600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr14:81983600-81987800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:81983800-81989200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr14:81983800-81999400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr14:81984000-81988400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr14:81984000-81988800	Weak transcription	NHEK	skin
27	chr14:81984000-81989600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:81984000-81998800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr14:81984200-81987000	Enhancers	Small Intestine	intestine
30	chr14:81984200-81989000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr14:81984200-81989600	Weak transcription	Brain Germinal Matrix	brain
32	chr14:81984200-81993000	Weak transcription	HSMMtube	muscle
33	chr14:81984200-81993600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr14:81984200-81999200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr14:81984400-81987200	Weak transcription	Osteobl	bone
36	chr14:81984400-81987800	Weak transcription	HSMM	muscle
37	chr14:81984400-81988800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr14:81984400-81988800	Weak transcription	NHDF-Ad	bronchial
39	chr14:81984400-81989200	Weak transcription	NHLF	lung
40	chr14:81984400-81990000	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr14:81984400-81999400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr14:81984600-81988200	Weak transcription	Lung	lung
43	chr14:81984600-81990400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr14:81984600-81990800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr14:81984800-81988800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr14:81985000-81987000	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr14:81985000-81987000	Enhancers	Primary hematopoietic stem cells	blood
48	chr14:81985000-81987000	Enhancers	Brain Hippocampus Middle	brain
49	chr14:81985000-81987400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr14:81985000-81987400	Strong transcription	Fetal Muscle Trunk	muscle

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