Variant report

Variant	rs4258608
Chromosome Location	chr16:81971582-81971583
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	chr16:81968947-81971841	GM12892	blood:	n/a	n/a
2	POLR2A	chr16:81971164-81971793	GM12892	blood:	n/a	n/a
3	POLR2A	chr16:81971185-81971759	GM12892	blood:	n/a	n/a
4	POLR2A	chr16:81971159-81971672	GM12891	blood:	n/a	n/a
5	POLR2A	chr16:81971361-81971768	GM12891	blood:	n/a	n/a
6	POLR2A	chr16:81971139-81971694	GM12878	blood:	n/a	n/a
7	POLR2A	chr16:81971291-81971612	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
PLCG2	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10514519	1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs12923387	0.92[ASN][1000 genomes]
rs12925104	0.83[CEU][hapmap]
rs4078270	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs4243225	1.00[CHB][hapmap]
rs4369659	0.82[YRI][hapmap]
rs4508413	0.82[GIH][hapmap]
rs4519328	0.94[CEU][hapmap];0.84[EUR][1000 genomes]
rs4603554	1.00[CHB][hapmap]
rs4611451	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.91[LWK][hapmap];0.82[MEX][hapmap];0.93[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4888191	0.82[CHB][hapmap];0.88[CHD][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs4888192	0.82[AFR][1000 genomes]
rs4888195	1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs4888196	0.92[ASN][1000 genomes]
rs4888198	1.00[CHB][hapmap]
rs4889443	1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs7201504	1.00[CHB][hapmap]
rs7205376	1.00[CHB][hapmap]
rs8043619	0.83[CEU][hapmap]
rs8047356	1.00[CHB][hapmap]
rs9932871	0.94[CEU][hapmap];0.84[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv573365	chr16:81804972-81975892	Strong transcription Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81920400-81982000	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr16:81925800-81992600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr16:81933000-81983600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr16:81934800-81971600	Weak transcription	Right Atrium	heart
5	chr16:81936000-81982000	Weak transcription	Gastric	stomach
6	chr16:81936000-81984600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr16:81945000-81984600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr16:81946200-81985200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr16:81950600-81982000	Strong transcription	GM12878-XiMat	blood
10	chr16:81952000-81982800	Strong transcription	Primary B cells from peripheral blood	blood
11	chr16:81952400-81983000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr16:81952600-81981800	Strong transcription	Primary B cells from cord blood	blood
13	chr16:81952800-81973000	Strong transcription	Duodenum Mucosa	Duodenum
14	chr16:81952800-81984600	Strong transcription	Liver	Liver
15	chr16:81953000-81977400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr16:81954800-81991800	Weak transcription	Fetal Thymus	thymus
17	chr16:81956400-81971600	Weak transcription	Fetal Kidney	kidney
18	chr16:81959600-81983800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr16:81960600-81982400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr16:81961600-81984600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr16:81962600-81995800	Weak transcription	Small Intestine	intestine
22	chr16:81962800-81972600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr16:81962800-81983600	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr16:81963000-81982000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr16:81963000-81984600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr16:81963600-81979600	Weak transcription	Colonic Mucosa	Colon
27	chr16:81963600-81983200	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr16:81967400-81984600	Weak transcription	Placenta	Placenta
29	chr16:81968000-81972200	Weak transcription	Lung	lung
30	chr16:81968200-81984200	Strong transcription	Primary hematopoietic stem cells	blood
31	chr16:81969200-81973200	Strong transcription	Fetal Intestine Small	intestine
32	chr16:81969200-81973600	Enhancers	Fetal Stomach	stomach
33	chr16:81969400-81972800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr16:81969800-81971600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr16:81969800-81973800	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr16:81970200-81990800	Weak transcription	Pancreas	Pancrea
37	chr16:81970600-81971800	Genic enhancers	Spleen	Spleen
38	chr16:81970600-81971800	Enhancers	NHEK	skin
39	chr16:81970800-81972000	Weak transcription	Adipose Nuclei	Adipose
40	chr16:81970800-81973600	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr16:81970800-81979800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr16:81970800-81991200	Weak transcription	Thymus	Thymus
43	chr16:81970800-81994600	Weak transcription	Fetal Intestine Large	intestine
44	chr16:81971000-81973400	Enhancers	Stomach Mucosa	stomach
45	chr16:81971200-81971800	Enhancers	Esophagus	oesophagus
46	chr16:81971200-81972000	Enhancers	H1 Cell Line	embryonic stem cell
47	chr16:81971200-81976400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr16:81971200-81976600	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr16:81971200-81976800	Weak transcription	Colon Smooth Muscle	Colon
50	chr16:81971200-81977400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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