Variant report

Variant	rs4903575
Chromosome Location	chr14:77842048-77842049
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr14:77841584-77843646	GM12878	blood:	n/a	n/a
2	POLR2A	chr14:77842030-77842266	GM12891	blood:	n/a	n/a
3	POLR2A	chr14:77841886-77843811	GM12892	blood:	n/a	n/a
4	KAP1	chr14:77841472-77842229	K562	blood:	n/a	n/a
5	YY1	chr14:77841915-77842252	GM12892	blood:	n/a	n/a
6	YY1	chr14:77841944-77842230	GM12891	blood:	n/a	n/a
7	WRNIP1	chr14:77841999-77842199	GM12878	blood:	n/a	n/a
8	YY1	chr14:77841902-77842228	GM12878	blood:	n/a	n/a
9	MXI1	chr14:77841038-77844400	SK-N-SH	brain:	n/a	n/a
10	TBP	chr14:77841562-77842264	GM12878	blood:	n/a	n/a
11	POLR2A	chr14:77841910-77842676	GM12892	blood:	n/a	n/a
12	MXI1	chr14:77841471-77842236	GM12878	blood:	n/a	n/a
13	SIN3A	chr14:77841519-77842180	GM12878	blood:	n/a	n/a
14	YY1	chr14:77841950-77842205	K562	blood:	n/a	n/a
15	CHD1	chr14:77841550-77842772	GM12878	blood:	n/a	n/a
16	YY1	chr14:77841904-77842259	GM12878	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:77841708..77843435-chr14:77931241..77933009,2	K562	blood:
2	chr14:77790811..77792920-chr14:77841645..77843708,2	MCF-7	breast:
3	chr14:77841182..77844130-chr14:78173275..78175250,2	MCF-7	breast:
4	chr14:77834994..77837691-chr14:77840044..77842472,2	K562	blood:
5	chr14:77826527..77828604-chr14:77841218..77842967,2	MCF-7	breast:
6	chr14:77785710..77794377-chr14:77836948..77846491,26	MCF-7	breast:
7	chr14:77800138..77802593-chr14:77840615..77842904,2	MCF-7	breast:
8	chr14:77814415..77818794-chr14:77841444..77844447,3	MCF-7	breast:
9	chr14:77841945..77846770-chr14:77921022..77925977,11	MCF-7	breast:
10	chr14:77841845..77843819-chr14:77922794..77925151,2	MCF-7	breast:
11	chr14:77766406..77773210-chr14:77841892..77846481,6	MCF-7	breast:

No data

Variant related genes	Relation type
SAMD15	TF binding region
ENSG00000119705	Chromatin interaction
ENSG00000100591	Chromatin interaction
ENSG00000009830	Chromatin interaction
ENSG00000212371	Chromatin interaction
ENSG00000100601	Chromatin interaction
ENSG00000100577	Chromatin interaction
ENSG00000266628	Chromatin interaction
ENSG00000151445	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10132557	0.85[ASN][1000 genomes]
rs10134642	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10135535	0.89[CEU][hapmap];0.81[GIH][hapmap];0.84[MEX][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10143274	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11159255	0.89[CEU][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11847248	0.89[CEU][hapmap];0.83[MEX][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1544707	0.84[JPT][hapmap]
rs1811281	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3815628	0.85[CEU][hapmap];0.81[GIH][hapmap];0.92[MEX][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8005835	0.85[ASN][1000 genomes]
rs9323641	0.89[CEU][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv902107	chr14:77790416-77871777	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs4903575	EIF2B2	cis	parietal	SCAN
rs4903575	GSTZ1	Cis_1M	lymphoblastoid	RTeQTL
rs4903575	TMEM90A	cis	cerebellum	SCAN
rs4903575	GSTZ1	cis	cerebellum	SCAN
rs4903575	C14orf118	cis	cerebellum	SCAN
rs4903575	C14orf156	cis	cerebellum	SCAN
rs4903575	GSTZ1	cis	multi-tissue	Pritchard
rs4903575	YLPM1	cis	cerebellum	SCAN

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77813800-77842400	Weak transcription	Aorta	Aorta
2	chr14:77829800-77842400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:77836000-77842200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr14:77836000-77842400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:77839000-77842200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr14:77839000-77842400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr14:77839200-77842600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr14:77840600-77844200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:77840800-77842400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:77840800-77842400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr14:77841000-77842400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:77841000-77842400	Weak transcription	Right Ventricle	heart
13	chr14:77841200-77842400	Weak transcription	Placenta	Placenta
14	chr14:77841200-77842800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:77841200-77843000	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr14:77841400-77842200	Weak transcription	A549	lung
17	chr14:77841400-77842400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr14:77841400-77842800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr14:77841400-77843000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr14:77841600-77842200	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr14:77841600-77842200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:77841600-77842200	Enhancers	Fetal Heart	heart
23	chr14:77841600-77842200	Enhancers	Fetal Intestine Small	intestine
24	chr14:77841600-77842200	Enhancers	Thymus	Thymus
25	chr14:77841600-77842400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr14:77841600-77842400	Enhancers	Liver	Liver
27	chr14:77841600-77842400	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr14:77841600-77842400	Weak transcription	NHLF	lung
29	chr14:77841600-77842600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:77841600-77842600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr14:77841600-77842600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr14:77841600-77842600	Flanking Active TSS	K562	blood
33	chr14:77841600-77842800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr14:77841600-77842800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr14:77841600-77842800	Flanking Active TSS	Brain Angular Gyrus	brain
36	chr14:77841600-77842800	Flanking Active TSS	Dnd41	blood
37	chr14:77841600-77843200	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr14:77841600-77843800	Active TSS	GM12878-XiMat	blood
39	chr14:77841800-77842200	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr14:77841800-77842200	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr14:77841800-77842400	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr14:77841800-77842600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr14:77841800-77842600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr14:77841800-77842800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:77841800-77842800	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr14:77841800-77842800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr14:77841800-77843200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr14:77841800-77843200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr14:77842000-77842200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr14:77842000-77842200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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