Variant report

Variant	rs56399658
Chromosome Location	chr14:70170755-70170756
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70078304..70080361-chr14:70167747..70170789,3	K562	blood:
2	chr14:70169497..70172180-chr14:70172528..70176030,3	MCF-7	breast:
3	chr14:70158665..70161434-chr14:70169533..70173159,3	K562	blood:
4	chr14:70169496..70171161-chr14:70174199..70176251,2	K562	blood:
5	chr14:70169010..70170880-chr14:70173572..70175615,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100647	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10498530	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11846784	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12147464	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1275825	0.83[EUR][1000 genomes]
rs2184599	0.85[EUR][1000 genomes]
rs4902749	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56675062	0.83[ASN][1000 genomes]
rs58697041	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67737953	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72723899	0.86[EUR][1000 genomes]
rs72723901	0.86[EUR][1000 genomes]
rs867900	0.87[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	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70160000-70177600	Weak transcription	Fetal Brain Female	brain
2	chr14:70161200-70176200	Weak transcription	NHDF-Ad	bronchial
3	chr14:70161600-70179200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:70162800-70178000	Weak transcription	HSMM	muscle
5	chr14:70163000-70175600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr14:70163000-70177800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr14:70163200-70175400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr14:70163400-70179400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:70163400-70183400	Weak transcription	Hela-S3	cervix
10	chr14:70163600-70176000	Weak transcription	NHEK	skin
11	chr14:70163800-70171000	Weak transcription	Osteobl	bone
12	chr14:70164000-70178800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:70164600-70174000	Weak transcription	HMEC	breast
14	chr14:70166600-70175400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr14:70166600-70179000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr14:70167200-70171000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:70167400-70170800	Enhancers	Brain Angular Gyrus	brain
18	chr14:70167800-70170800	Enhancers	Brain Substantia Nigra	brain
19	chr14:70167800-70171000	Enhancers	Liver	Liver
20	chr14:70168000-70170800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:70168000-70177400	Strong transcription	Fetal Intestine Small	intestine
22	chr14:70168200-70172800	Genic enhancers	Fetal Thymus	thymus
23	chr14:70168200-70179200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr14:70168400-70175000	Weak transcription	Stomach Mucosa	stomach
25	chr14:70168800-70170800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr14:70169000-70170800	Genic enhancers	GM12878-XiMat	blood
27	chr14:70169000-70171600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr14:70169000-70175400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr14:70169000-70175400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:70169000-70175400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr14:70169000-70177600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr14:70169200-70176200	Weak transcription	Fetal Brain Male	brain
33	chr14:70169400-70175400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr14:70169600-70175000	Weak transcription	Colonic Mucosa	Colon
35	chr14:70169600-70175200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr14:70169800-70170800	Genic enhancers	Primary T cells from cord blood	blood
37	chr14:70170000-70170800	Genic enhancers	Gastric	stomach
38	chr14:70170000-70171000	Genic enhancers	K562	blood
39	chr14:70170000-70171600	Genic enhancers	Esophagus	oesophagus
40	chr14:70170000-70171600	Genic enhancers	Fetal Muscle Leg	muscle
41	chr14:70170000-70171600	Genic enhancers	Right Ventricle	heart
42	chr14:70170000-70171800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr14:70170000-70171800	Strong transcription	Aorta	Aorta
44	chr14:70170000-70172000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr14:70170000-70172600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr14:70170000-70172600	Genic enhancers	Lung	lung
47	chr14:70170000-70172600	Strong transcription	NHLF	lung
48	chr14:70170000-70178000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr14:70170000-70178000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr14:70170000-70178200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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