Variant report

Variant	rs4981948
Chromosome Location	chr14:20756887-20756888
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	chr14:20756758..20759737-chr14:20760668..20764234,4	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12884509	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12886394	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3737220	1.00[CEU][hapmap];0.85[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4609734	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4981148	0.89[GIH][hapmap]
rs4981951	0.89[GIH][hapmap]
rs66546253	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71410220	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9796391	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901299	chr14:20191869-20756887	Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
4	nsv1043938	chr14:20427182-20776276	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv541971	chr14:20427182-20776276	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv1037160	chr14:20517485-20901811	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
7	nsv541974	chr14:20517485-20901811	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
8	nsv869984	chr14:20732655-20776216	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv1806993	chr14:20743269-20841162	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4981948	RPPH1	cis	multi-tissue	Pritchard

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20731400-20757000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:20741200-20757400	Weak transcription	Right Ventricle	heart
3	chr14:20742400-20759000	Weak transcription	Colon Smooth Muscle	Colon
4	chr14:20743600-20761800	Weak transcription	Psoas Muscle	Psoas
5	chr14:20744000-20757000	Weak transcription	Brain Substantia Nigra	brain
6	chr14:20746200-20763400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr14:20746400-20764000	Weak transcription	Fetal Brain Male	brain
8	chr14:20746600-20759000	Weak transcription	Brain Germinal Matrix	brain
9	chr14:20746600-20773200	Weak transcription	Stomach Mucosa	stomach
10	chr14:20747000-20757400	Weak transcription	NHEK	skin
11	chr14:20747200-20759400	Weak transcription	HMEC	breast
12	chr14:20747200-20761800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr14:20747200-20766800	Weak transcription	K562	blood
14	chr14:20748000-20766600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr14:20748600-20757200	Weak transcription	Fetal Intestine Small	intestine
16	chr14:20748800-20757000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr14:20749000-20757000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr14:20749000-20757000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr14:20749000-20757600	Weak transcription	Esophagus	oesophagus
20	chr14:20749000-20761400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr14:20749000-20763400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:20749000-20763400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr14:20749000-20766800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:20749200-20757000	Weak transcription	Fetal Muscle Leg	muscle
25	chr14:20749200-20757600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr14:20749200-20759600	Weak transcription	HepG2	liver
27	chr14:20749200-20773400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr14:20752400-20757000	Weak transcription	Fetal Thymus	thymus
29	chr14:20753800-20757000	Weak transcription	Small Intestine	intestine
30	chr14:20754000-20763400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr14:20754000-20763400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr14:20754400-20757400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr14:20754400-20758200	Strong transcription	HSMM	muscle
34	chr14:20754400-20770000	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr14:20754400-20770200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr14:20754400-20770800	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr14:20754600-20757200	Weak transcription	Hela-S3	cervix
38	chr14:20754600-20758200	Strong transcription	Primary B cells from cord blood	blood
39	chr14:20754600-20758200	Strong transcription	Fetal Lung	lung
40	chr14:20754600-20758400	Strong transcription	Brain Hippocampus Middle	brain
41	chr14:20754600-20770400	Strong transcription	Duodenum Mucosa	Duodenum
42	chr14:20754600-20770400	Strong transcription	Dnd41	blood
43	chr14:20754800-20757600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:20754800-20761400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr14:20754800-20763200	Strong transcription	Primary B cells from peripheral blood	blood
46	chr14:20754800-20770000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr14:20754800-20770000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr14:20754800-20770200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr14:20754800-20770400	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr14:20754800-20770400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links