Variant report

Variant	rs2236179
Chromosome Location	chr14:81953242-81953243
allele	C/T
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	chr14:81953158-81953755	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81686258..81687876-chr14:81953201..81954777,2	K562	blood:

Variant related genes	Relation type
SEL1L	TF binding region
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12887741	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12890754	0.85[AFR][1000 genomes]
rs12893863	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1885598	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2025214	0.91[YRI][hapmap];0.85[AFR][1000 genomes]
rs3208229	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4903983	0.91[YRI][hapmap]
rs7144408	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047694	chr14:81831147-82534026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv542145	chr14:81831147-82534026	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv902120	chr14:81953242-82067555	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81931400-81955000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr14:81938000-81954600	Weak transcription	Fetal Heart	heart
3	chr14:81938400-81971000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:81938400-81973400	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr14:81938400-81974000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr14:81938400-81977000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr14:81938600-81955000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr14:81938600-81959800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:81938600-81963400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:81938800-81977600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr14:81939600-81960000	Weak transcription	Stomach Mucosa	stomach
12	chr14:81939600-81974600	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr14:81940000-81971200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr14:81940600-81975000	Strong transcription	Liver	Liver
15	chr14:81941200-81955800	Strong transcription	Left Ventricle	heart
16	chr14:81941200-81957000	Strong transcription	Duodenum Smooth Muscle	Duodenum
17	chr14:81941200-81973800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr14:81941200-81973800	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr14:81941400-81972200	Strong transcription	Fetal Intestine Large	intestine
20	chr14:81941400-81972400	Strong transcription	Duodenum Mucosa	Duodenum
21	chr14:81941400-81975600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr14:81941600-81955000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:81941600-81974600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:81941600-81975000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr14:81941600-81975200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:81941800-81975000	Strong transcription	Primary B cells from peripheral blood	blood
27	chr14:81941800-81985600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr14:81942000-81975000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr14:81942000-81976600	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr14:81942400-81957400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr14:81942600-81975000	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr14:81943400-81976400	Strong transcription	Dnd41	blood
33	chr14:81943600-81977000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr14:81944600-81971800	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr14:81944800-81958200	Strong transcription	HSMM	muscle
36	chr14:81945200-81953400	Weak transcription	K562	blood
37	chr14:81946000-81953600	Weak transcription	Aorta	Aorta
38	chr14:81946000-81954600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr14:81947000-81955000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr14:81947200-81974800	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr14:81947400-81953600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr14:81947400-81953600	Weak transcription	Esophagus	oesophagus
43	chr14:81947400-81953600	Weak transcription	Gastric	stomach
44	chr14:81947400-81954800	Weak transcription	Pancreas	Pancrea
45	chr14:81947400-81954800	Weak transcription	Spleen	Spleen
46	chr14:81947400-81955000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr14:81947400-81955000	Weak transcription	Fetal Brain Male	brain
48	chr14:81948400-81955800	Strong transcription	Fetal Muscle Leg	muscle
49	chr14:81948400-81974400	Strong transcription	Placenta	Placenta
50	chr14:81948600-81972800	Strong transcription	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links