Variant report

Variant	rs11844845
Chromosome Location	chr14:70839389-70839390
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70824438..70828087-chr14:70835915..70840761,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000222640	Chromatin interaction
ENSG00000133983	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10133282	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10136230	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10139500	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10142102	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10144588	0.83[EUR][1000 genomes]
rs10144818	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10144926	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10148586	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10150707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1044527	0.90[JPT][hapmap]
rs10873230	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11158861	0.86[ASN][1000 genomes]
rs11623974	0.90[JPT][hapmap]
rs12588623	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12589762	0.89[ASN][1000 genomes]
rs12889741	0.89[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs12894199	0.83[ASN][1000 genomes]
rs17108107	0.80[EUR][1000 genomes]
rs1959485	0.89[CHB][hapmap]
rs2332384	0.85[ASN][1000 genomes]
rs2332415	0.96[EUR][1000 genomes]
rs2332417	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2877657	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2877669	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28830860	0.89[ASN][1000 genomes]
rs3759774	0.90[JPT][hapmap]
rs4048519	0.96[EUR][1000 genomes]
rs4541006	0.86[ASN][1000 genomes]
rs4899354	0.89[CHB][hapmap]
rs4902815	0.84[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs55728800	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56977342	0.90[ASN][1000 genomes]
rs57495576	0.90[ASN][1000 genomes]
rs57535767	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58186506	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59788049	0.86[ASN][1000 genomes]
rs61979082	0.86[ASN][1000 genomes]
rs6573949	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66886776	0.89[ASN][1000 genomes]
rs67203490	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7141636	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7141694	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7144478	0.84[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs7148445	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7150428	0.80[EUR][1000 genomes]
rs8005522	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8014179	0.89[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8014252	0.80[MEX][hapmap]
rs8014459	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8015005	0.85[JPT][hapmap]
rs8016520	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9323536	1.00[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9630398	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9652366	0.89[CHB][hapmap]

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	nsv902075	chr14:70612618-70919016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11844845	ZFYVE1	cis	parietal	SCAN
rs11844845	ADAM20	cis	cerebellum	SCAN
rs11844845	MED6	cis	cerebellum	SCAN
rs11844845	SLC8A3	cis	cerebellum	SCAN

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70826600-70839600	Weak transcription	Gastric	stomach
2	chr14:70826800-70839600	Weak transcription	Spleen	Spleen
3	chr14:70826800-70842000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:70826800-70857600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:70827000-70839400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr14:70827000-70839600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:70827000-70839600	Weak transcription	Pancreas	Pancrea
8	chr14:70827000-70840000	Weak transcription	Psoas Muscle	Psoas
9	chr14:70827000-70842200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr14:70827000-70855200	Weak transcription	Esophagus	oesophagus
11	chr14:70827000-70857600	Weak transcription	Small Intestine	intestine
12	chr14:70827000-70864200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr14:70827200-70839400	Weak transcription	Osteobl	bone
14	chr14:70827200-70839600	Weak transcription	Aorta	Aorta
15	chr14:70827200-70839600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr14:70827200-70840800	Weak transcription	Fetal Brain Male	brain
17	chr14:70827200-70842000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr14:70827200-70864200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr14:70827200-70864400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr14:70827200-70882600	Weak transcription	A549	lung
21	chr14:70827200-70882600	Weak transcription	NH-A	brain
22	chr14:70827400-70839400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr14:70827400-70839400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr14:70827400-70839600	Weak transcription	Dnd41	blood
25	chr14:70827400-70839800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr14:70827400-70839800	Weak transcription	Brain Angular Gyrus	brain
27	chr14:70827400-70845800	Weak transcription	HSMM	muscle
28	chr14:70827400-70846200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr14:70827600-70840600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr14:70831600-70841800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:70832000-70872400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:70832200-70864200	Weak transcription	GM12878-XiMat	blood
33	chr14:70832600-70858000	Weak transcription	Stomach Mucosa	stomach
34	chr14:70832800-70856600	Weak transcription	HUVEC	blood vessel
35	chr14:70833000-70839600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr14:70833800-70839600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr14:70833800-70882400	Weak transcription	NHDF-Ad	bronchial
38	chr14:70834000-70858400	Weak transcription	HepG2	liver
39	chr14:70834200-70864600	Weak transcription	Fetal Thymus	thymus
40	chr14:70834400-70839800	Weak transcription	Fetal Kidney	kidney
41	chr14:70834400-70843400	Weak transcription	Fetal Heart	heart
42	chr14:70834400-70847800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr14:70834600-70839600	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr14:70834600-70844000	Weak transcription	Thymus	Thymus
45	chr14:70834800-70841400	Weak transcription	NHLF	lung
46	chr14:70835400-70856000	Strong transcription	Primary T cells from cord blood	blood
47	chr14:70835600-70839600	Weak transcription	Brain Substantia Nigra	brain
48	chr14:70835600-70853800	Strong transcription	Liver	Liver
49	chr14:70835800-70839400	Weak transcription	Colonic Mucosa	Colon
50	chr14:70835800-70839400	Weak transcription	Placenta Amnion	Placenta Amnion

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