Variant report

Variant	rs4538005
Chromosome Location	chr16:81992103-81992104
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:81992011-81994566	GM12892	blood:	n/a	n/a
2	POLR2A	chr16:81992102-81994030	GM12892	blood:	n/a	n/a
3	POLR2A	chr16:81992039-81994589	GM12891	blood:	n/a	n/a
4	POLR2A	chr16:81992053-81994097	GM12892	blood:	n/a	n/a
5	POLR2A	chr16:81991981-81994095	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81985903..81987426-chr16:81990429..81993272,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260682	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs61422344	1.00[AMR][1000 genomes]
rs73590844	1.00[AMR][1000 genomes]
rs73592931	1.00[AMR][1000 genomes]
rs9940401	1.00[AMR][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	nsv1059532	chr16:81981559-81995177	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv907012	chr16:81986896-82115148	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81925800-81992600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr16:81962600-81995800	Weak transcription	Small Intestine	intestine
3	chr16:81970800-81994600	Weak transcription	Fetal Intestine Large	intestine
4	chr16:81972200-81993200	Weak transcription	Fetal Kidney	kidney
5	chr16:81982600-81996600	Weak transcription	Fetal Stomach	stomach
6	chr16:81982600-82007000	Weak transcription	Gastric	stomach
7	chr16:81985000-81992600	Weak transcription	Placenta	Placenta
8	chr16:81985000-81993800	Weak transcription	Fetal Intestine Small	intestine
9	chr16:81985000-81994400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr16:81985000-81995200	Weak transcription	Left Ventricle	heart
11	chr16:81985000-81995600	Strong transcription	GM12878-XiMat	blood
12	chr16:81985400-81994000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr16:81985400-81994800	Strong transcription	Primary B cells from peripheral blood	blood
14	chr16:81985400-81995600	Strong transcription	Primary B cells from cord blood	blood
15	chr16:81985600-81993000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr16:81985600-81993400	Strong transcription	Liver	Liver
17	chr16:81985600-81993600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr16:81987800-81993800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr16:81988000-81993600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr16:81988600-81995000	Strong transcription	Primary hematopoietic stem cells	blood
21	chr16:81989000-81993400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr16:81989000-81994000	Strong transcription	Spleen	Spleen
23	chr16:81989200-81994000	Strong transcription	Duodenum Mucosa	Duodenum
24	chr16:81990000-81993000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr16:81990200-81993400	Strong transcription	Lung	lung
26	chr16:81990400-81996400	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr16:81990600-81992200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr16:81990600-81993400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr16:81990600-81994000	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr16:81990600-81995600	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr16:81991000-81992800	Strong transcription	Adipose Nuclei	Adipose
32	chr16:81991200-81994000	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr16:81992000-81992600	Enhancers	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links