Variant report

Variant	rs8020334
Chromosome Location	chr14:67798405-67798406
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:67797650..67799594-chr14:67801621..67803811,2	MCF-7	breast:
2	chr14:67797985..67799549-chr14:67804986..67806872,2	MCF-7	breast:
3	chr14:67792313..67794039-chr14:67796676..67799275,2	K562	blood:
4	chr14:67797256..67800222-chr14:67825943..67828625,2	K562	blood:

Variant related genes	Relation type
ENSG00000134001	Chromatin interaction
ENSG00000100554	Chromatin interaction
ENSG00000199755	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10083528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10129218	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10135565	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10136835	0.84[EUR][1000 genomes]
rs10140203	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10141049	0.84[EUR][1000 genomes]
rs10144002	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10145458	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs10148114	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10150612	0.84[EUR][1000 genomes]
rs13379087	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13379190	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs13379449	1.00[CEU][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17104018	0.84[EUR][1000 genomes]
rs28410937	0.84[EUR][1000 genomes]
rs28477898	1.00[ASN][1000 genomes]
rs28503899	0.84[EUR][1000 genomes]
rs35236021	0.84[EUR][1000 genomes]
rs57402080	0.85[EUR][1000 genomes]
rs59231326	0.85[EUR][1000 genomes]
rs59984712	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573767	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144147	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs7149826	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154820	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7157676	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7342569	1.00[CEU][hapmap]
rs8008820	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8012994	1.00[CEU][hapmap];0.94[YRI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8013980	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs8014465	0.84[EUR][1000 genomes]
rs8015912	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8016480	0.84[EUR][1000 genomes]
rs8022938	1.00[CEU][hapmap];0.94[YRI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751285	chr14:67364747-67886781	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv832821	chr14:67590418-67828169	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv902065	chr14:67739285-67819602	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 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	chr14:67732400-67810000	Weak transcription	Gastric	stomach
2	chr14:67735600-67810000	Weak transcription	Aorta	Aorta
3	chr14:67737200-67801400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr14:67750000-67801400	Weak transcription	Fetal Heart	heart
5	chr14:67753600-67799200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:67756400-67799000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr14:67758400-67801400	Weak transcription	Small Intestine	intestine
8	chr14:67759800-67799800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr14:67762600-67799000	Weak transcription	Fetal Brain Female	brain
10	chr14:67762600-67825200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:67764400-67825200	Weak transcription	Stomach Mucosa	stomach
12	chr14:67767200-67799000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr14:67767200-67804200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr14:67767200-67804600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr14:67767200-67825200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr14:67768600-67825800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr14:67769200-67804800	Weak transcription	Spleen	Spleen
18	chr14:67770200-67799400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr14:67770600-67804000	Weak transcription	Right Ventricle	heart
20	chr14:67777800-67801600	Weak transcription	Esophagus	oesophagus
21	chr14:67780200-67798800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr14:67780200-67798800	Weak transcription	Brain Angular Gyrus	brain
23	chr14:67786400-67809200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr14:67788200-67799200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:67788200-67799200	Weak transcription	Psoas Muscle	Psoas
26	chr14:67788600-67798600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr14:67788600-67799200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr14:67789000-67801600	Weak transcription	Colonic Mucosa	Colon
29	chr14:67789200-67798600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr14:67789200-67799600	Weak transcription	Brain Germinal Matrix	brain
31	chr14:67789200-67801400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr14:67789400-67804800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr14:67790400-67810200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr14:67791600-67798600	Weak transcription	HUVEC	blood vessel
35	chr14:67791600-67804600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr14:67791600-67820000	Weak transcription	Pancreas	Pancrea
37	chr14:67792000-67804600	Weak transcription	Lung	lung
38	chr14:67792400-67798600	Weak transcription	Primary B cells from cord blood	blood
39	chr14:67792400-67798600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr14:67792400-67799200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr14:67792400-67799200	Weak transcription	Ovary	ovary
42	chr14:67792400-67799600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr14:67792400-67799600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr14:67792400-67801000	Weak transcription	NHLF	lung
45	chr14:67792600-67798800	Weak transcription	Brain Anterior Caudate	brain
46	chr14:67792600-67798800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr14:67792600-67799000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr14:67792600-67801600	Weak transcription	Thymus	Thymus
49	chr14:67792800-67798800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr14:67792800-67799000	Weak transcription	HepG2	liver

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