Variant report

Variant	rs28472532
Chromosome Location	chr14:97287513-97287514
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	chr14:97263470..97265371-chr14:97287490..97290229,2	K562	blood:

Variant related genes	Relation type
ENSG00000100749	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10148833	1.00[AMR][1000 genomes]
rs10438228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28373911	1.00[AMR][1000 genomes]
rs28441262	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28483910	1.00[AMR][1000 genomes]
rs28540414	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74076105	1.00[AMR][1000 genomes]
rs74076109	1.00[AMR][1000 genomes]
rs74076110	1.00[AMR][1000 genomes]
rs74076111	1.00[AMR][1000 genomes]
rs74076125	1.00[AMR][1000 genomes]
rs74076127	1.00[AMR][1000 genomes]
rs74076276	1.00[AMR][1000 genomes]
rs74076277	1.00[AMR][1000 genomes]
rs9323952	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1044202	chr14:97155291-97683983	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv542179	chr14:97155291-97683983	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv510650	chr14:97238489-97325221	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1052138	chr14:97271794-97322583	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv542180	chr14:97271794-97322583	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1043916	chr14:97275088-97320354	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1051182	chr14:97275088-97337039	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97264800-97288000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr14:97264800-97321600	Weak transcription	Psoas Muscle	Psoas
3	chr14:97265200-97293200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr14:97265600-97291800	Weak transcription	A549	lung
5	chr14:97266200-97303200	Weak transcription	Hela-S3	cervix
6	chr14:97271600-97313800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr14:97272400-97293800	Weak transcription	Primary B cells from cord blood	blood
8	chr14:97279600-97289200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr14:97279600-97289200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr14:97281400-97299800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr14:97282600-97293200	Weak transcription	Dnd41	blood
12	chr14:97282600-97300200	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr14:97282800-97301800	Weak transcription	Thymus	Thymus
14	chr14:97283000-97288000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr14:97283000-97293200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr14:97283000-97293400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr14:97283000-97299800	Weak transcription	Fetal Thymus	thymus
18	chr14:97283000-97300800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr14:97283400-97292200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr14:97283400-97294200	Weak transcription	Primary T cells from cord blood	blood
21	chr14:97284600-97287600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:97284600-97287600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr14:97284600-97289200	Weak transcription	HepG2	liver
24	chr14:97284600-97289600	Weak transcription	K562	blood
25	chr14:97284600-97290600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr14:97284600-97291400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr14:97284600-97299000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr14:97284600-97313800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr14:97285400-97290600	Weak transcription	Osteobl	bone
30	chr14:97286200-97288000	Weak transcription	Aorta	Aorta
31	chr14:97286400-97290200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr14:97286800-97298800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr14:97287000-97288200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr14:97287000-97301600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr14:97287200-97287600	Enhancers	HMEC	breast
36	chr14:97287200-97288200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr14:97287200-97288200	Enhancers	Brain Germinal Matrix	brain
38	chr14:97287200-97288200	Enhancers	Fetal Brain Female	brain
39	chr14:97287200-97288600	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr14:97287200-97288600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr14:97287200-97289400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr14:97287200-97289400	Enhancers	NHEK	skin
43	chr14:97287400-97288000	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr14:97287400-97288200	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr14:97287400-97288200	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr14:97287400-97288200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr14:97287400-97288200	Enhancers	Brain Anterior Caudate	brain
48	chr14:97287400-97288200	Enhancers	Brain Hippocampus Middle	brain
49	chr14:97287400-97289200	Enhancers	Fetal Brain Male	brain

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