Variant report

Variant	rs55843943
Chromosome Location	chr14:31423263-31423264
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	chr14:31422050..31424018-chr14:31493292..31496577,3	K562	blood:

Variant related genes	Relation type
ENSG00000196792	Chromatin interaction
ENSG00000100478	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10459469	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11623403	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11625390	0.83[AMR][1000 genomes]
rs11625978	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11627379	0.83[AMR][1000 genomes]
rs17097608	0.83[AMR][1000 genomes]
rs17097614	0.83[AMR][1000 genomes]
rs1977130	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2281563	0.80[AMR][1000 genomes]
rs2295129	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2378815	0.83[AMR][1000 genomes]
rs3784158	0.83[AMR][1000 genomes]
rs55708493	0.83[AMR][1000 genomes]
rs56136496	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57706775	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58307523	0.84[EUR][1000 genomes]
rs60862458	0.83[AMR][1000 genomes]
rs61976773	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61976775	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61976776	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61976779	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61976796	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61976799	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6571374	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67898509	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140551	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7150316	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7150699	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72668381	0.83[AMR][1000 genomes]
rs72670303	0.83[AMR][1000 genomes]
rs8008526	0.83[AMR][1000 genomes]
rs8008780	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9671318	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv901585	chr14:31365884-31433473	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv901586	chr14:31365884-31465241	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv564177	chr14:31381351-31425437	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31345000-31435400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:31358000-31428200	Weak transcription	Small Intestine	intestine
3	chr14:31360200-31435600	Weak transcription	Gastric	stomach
4	chr14:31362400-31435400	Weak transcription	Colonic Mucosa	Colon
5	chr14:31363000-31430600	Weak transcription	Brain Angular Gyrus	brain
6	chr14:31363000-31435200	Weak transcription	Esophagus	oesophagus
7	chr14:31365800-31435600	Weak transcription	Right Ventricle	heart
8	chr14:31377800-31435600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:31378000-31439000	Weak transcription	Psoas Muscle	Psoas
10	chr14:31378800-31435200	Weak transcription	Aorta	Aorta
11	chr14:31378800-31435400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:31395000-31435200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr14:31395000-31435200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr14:31396600-31429600	Weak transcription	Brain Substantia Nigra	brain
15	chr14:31398400-31426200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:31400200-31425600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:31408000-31425400	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr14:31408000-31425800	Strong transcription	Dnd41	blood
19	chr14:31408600-31424400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr14:31409200-31425000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:31409400-31424400	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr14:31410000-31425600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr14:31410000-31425600	Strong transcription	Fetal Intestine Large	intestine
24	chr14:31410200-31425600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr14:31410200-31425800	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr14:31410600-31435400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:31411200-31425200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:31411200-31425600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:31411400-31425400	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr14:31411600-31425200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr14:31411600-31425800	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr14:31411800-31423400	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr14:31411800-31425400	Strong transcription	Primary B cells from peripheral blood	blood
34	chr14:31411800-31425400	Strong transcription	Liver	Liver
35	chr14:31411800-31425600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr14:31412400-31425600	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr14:31412600-31424800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr14:31413200-31425600	Strong transcription	HepG2	liver
39	chr14:31413400-31435200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr14:31414200-31424000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr14:31414800-31434200	Weak transcription	Fetal Kidney	kidney
42	chr14:31415000-31437200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr14:31415400-31426000	Weak transcription	Colon Smooth Muscle	Colon
44	chr14:31415800-31428000	Weak transcription	Brain Germinal Matrix	brain
45	chr14:31415800-31429200	Weak transcription	Lung	lung
46	chr14:31415800-31435200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr14:31416000-31428200	Weak transcription	Pancreas	Pancrea
48	chr14:31416000-31429200	Weak transcription	Brain Anterior Caudate	brain
49	chr14:31416000-31433000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr14:31416000-31435200	Weak transcription	Spleen	Spleen

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