Variant report

Variant	rs8005236
Chromosome Location	chr14:69232517-69232518
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69228047..69235545-chr14:69258153..69263182,8	K562	blood:
2	chr14:69227522..69230356-chr14:69232176..69234419,3	MCF-7	breast:
3	chr14:69231839..69233779-chr14:69245247..69247315,2	K562	blood:
4	chr14:69230966..69233869-chr14:69245224..69248622,3	MCF-7	breast:
5	chr14:69229565..69232248-chr14:69232416..69234037,2	K562	blood:
6	chr14:69224134..69226180-chr14:69230728..69233556,2	K562	blood:
7	chr14:69231986..69234711-chr14:69260797..69263067,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11158762	0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7146217	0.89[JPT][hapmap];0.83[EUR][1000 genomes]
rs747854	0.85[JPT][hapmap];0.83[ASN][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	nsv1035267	chr14:69230254-69348126	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv542123	chr14:69230254-69348126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8005236	ZFP36L1	Cis_1M	lymphoblastoid	RTeQTL
rs8005236	ZFP36L1	cis	normal skin	skin_eQTL
rs8005236	ZFP36L1	cis	uninvolved skin	skin_eQTL

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69222600-69235600	Enhancers	Ovary	ovary
2	chr14:69224800-69237200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr14:69225000-69237000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr14:69225200-69237000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr14:69225800-69237800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr14:69226000-69234400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr14:69227000-69233400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:69228600-69247000	Weak transcription	Esophagus	oesophagus
9	chr14:69230000-69237400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr14:69230200-69233800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:69230200-69245800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr14:69230400-69233000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr14:69230400-69237400	Weak transcription	Gastric	stomach
14	chr14:69230400-69237400	Weak transcription	Right Ventricle	heart
15	chr14:69230400-69237600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:69230800-69233000	Weak transcription	Fetal Intestine Large	intestine
17	chr14:69230800-69233000	Weak transcription	Fetal Intestine Small	intestine
18	chr14:69230800-69234000	Weak transcription	Placenta	Placenta
19	chr14:69230800-69237000	Weak transcription	Left Ventricle	heart
20	chr14:69230800-69237800	Weak transcription	Right Atrium	heart
21	chr14:69230800-69241000	Weak transcription	HSMMtube	muscle
22	chr14:69231000-69233400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr14:69231200-69232800	Weak transcription	Liver	Liver
24	chr14:69231200-69233200	Weak transcription	HepG2	liver
25	chr14:69231400-69233600	Enhancers	Primary T cells fromperipheralblood	blood
26	chr14:69231600-69232600	Enhancers	Primary T cells from cord blood	blood
27	chr14:69231600-69242200	Weak transcription	Stomach Mucosa	stomach
28	chr14:69231600-69244600	Weak transcription	Fetal Heart	heart
29	chr14:69231800-69232600	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr14:69231800-69237200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr14:69232000-69232600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr14:69232000-69232800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr14:69232000-69235000	Weak transcription	Fetal Thymus	thymus
34	chr14:69232200-69232600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr14:69232200-69233600	Enhancers	Lung	lung
36	chr14:69232200-69234400	Enhancers	Spleen	Spleen
37	chr14:69232400-69232600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr14:69232400-69232600	Enhancers	Pancreas	Pancrea
39	chr14:69232400-69234800	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr14:69232400-69237200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr14:69232400-69237200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr14:69232400-69237400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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