Variant report

Variant	rs72706852
Chromosome Location	chr14:97014585-97014586
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:96985630..96987652-chr14:97013134..97015914,2	MCF-7	breast:
2	chr14:97007480..97011210-chr14:97011511..97014615,3	K562	blood:

Variant related genes	Relation type
ENSG00000090060	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10145194	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11160342	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11160343	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12147170	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12147717	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12586332	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12586789	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12589747	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2297243	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28600893	0.84[ASN][1000 genomes]
rs3809425	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56088908	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56254662	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56960368	0.87[AFR][1000 genomes]
rs59323239	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61368673	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7142226	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72706848	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72706853	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72706855	0.90[ASN][1000 genomes]
rs72706857	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72706860	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72706863	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72706864	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8003976	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042409	chr14:96832303-97115668	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active 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 target site	52 gene(s)	inside rSNPs	diseases
2	nsv542178	chr14:96832303-97115668	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv3442210	chr14:96878392-97038700	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	esv1802671	chr14:96942352-97035680	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv1052499	chr14:96974524-97034805	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	esv1793036	chr14:96983291-97023059	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv1048302	chr14:97000845-97250538	Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	esv1791939	chr14:97001679-97027747	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv1041078	chr14:97001679-97279220	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv1050075	chr14:97004951-97279220	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 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	chr14:96978000-97019400	Weak transcription	Aorta	Aorta
2	chr14:96979600-97022400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:96979800-97019200	Weak transcription	Small Intestine	intestine
4	chr14:96980800-97020600	Weak transcription	Stomach Mucosa	stomach
5	chr14:96982000-97031400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr14:96984800-97020800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:96984800-97039400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr14:96989000-97018800	Weak transcription	Lung	lung
9	chr14:96989200-97018600	Weak transcription	Brain Substantia Nigra	brain
10	chr14:96991400-97022400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr14:96993000-97018800	Weak transcription	Gastric	stomach
12	chr14:96993000-97018800	Weak transcription	Pancreas	Pancrea
13	chr14:96993000-97018800	Weak transcription	Spleen	Spleen
14	chr14:96993200-97018800	Weak transcription	Esophagus	oesophagus
15	chr14:96993600-97017400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr14:96993600-97018800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr14:96993600-97018800	Weak transcription	Ovary	ovary
18	chr14:96994000-97018800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr14:96994400-97018800	Weak transcription	Colonic Mucosa	Colon
20	chr14:96997800-97015600	Weak transcription	Fetal Intestine Small	intestine
21	chr14:96997800-97015800	Weak transcription	Fetal Stomach	stomach
22	chr14:96997800-97016200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr14:96997800-97018800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr14:96999000-97016200	Weak transcription	Thymus	Thymus
25	chr14:96999200-97018800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr14:96999200-97018800	Weak transcription	Psoas Muscle	Psoas
27	chr14:96999200-97020600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr14:96999200-97022200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr14:96999400-97040600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr14:97001000-97017200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr14:97001000-97018600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr14:97001000-97018800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr14:97001200-97018600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr14:97001800-97019200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr14:97002400-97019600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr14:97002600-97033800	Weak transcription	Fetal Brain Male	brain
37	chr14:97003000-97018000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr14:97003800-97018800	Weak transcription	Colon Smooth Muscle	Colon
39	chr14:97003800-97019600	Weak transcription	Brain Hippocampus Middle	brain
40	chr14:97005400-97015600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr14:97006400-97040400	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr14:97006600-97024400	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr14:97007600-97035200	Strong transcription	Primary B cells from peripheral blood	blood
44	chr14:97007600-97036000	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr14:97007800-97034800	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr14:97008000-97019600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr14:97008000-97036000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr14:97008200-97017600	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr14:97008200-97033800	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr14:97008200-97035800	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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