Variant report

Variant	rs421516
Chromosome Location	chr17:63135589-63135590
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:63134560..63136303-chr17:63148966..63151804,2	MCF-7	breast:
2	chr17:63056499..63058774-chr17:63134667..63136263,2	MCF-7	breast:
3	chr17:63051597..63055036-chr17:63132407..63135692,4	MCF-7	breast:
4	chr17:63130431..63132814-chr17:63134933..63137280,2	K562	blood:

Variant related genes	Relation type
ENSG00000120063	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12325695	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12325697	1.00[EUR][1000 genomes]
rs12325701	1.00[EUR][1000 genomes]
rs12325705	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1530351	1.00[CHB][hapmap]
rs1533336	1.00[CHB][hapmap]
rs16960426	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs388527	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs409583	0.82[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs421100	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs426851	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs525978	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72850328	0.83[EUR][1000 genomes]
rs72850331	0.83[EUR][1000 genomes]
rs72850349	0.83[EUR][1000 genomes]
rs72850352	0.83[EUR][1000 genomes]
rs72850373	1.00[EUR][1000 genomes]
rs72850379	1.00[EUR][1000 genomes]

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	nsv530764	chr17:62939944-63278472	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63133000-63136200	Active TSS	Brain Anterior Caudate	brain
2	chr17:63133800-63135800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr17:63134000-63135600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr17:63134000-63135800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr17:63134000-63136000	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr17:63134000-63136000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr17:63134000-63136200	Enhancers	Fetal Thymus	thymus
8	chr17:63134000-63136400	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr17:63134000-63140600	Weak transcription	Right Atrium	heart
10	chr17:63134200-63135600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
11	chr17:63134200-63135600	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr17:63134200-63136200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr17:63134400-63135600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
14	chr17:63134400-63135600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr17:63134400-63136200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr17:63134400-63140000	Weak transcription	Brain Substantia Nigra	brain
17	chr17:63134400-63143000	Weak transcription	Spleen	Spleen
18	chr17:63134400-63143200	Weak transcription	Esophagus	oesophagus
19	chr17:63134400-63169000	Weak transcription	Colon Smooth Muscle	Colon
20	chr17:63134600-63135600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr17:63134600-63135600	Bivalent Enhancer	Fetal Kidney	kidney
22	chr17:63134600-63140600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr17:63134800-63136000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr17:63134800-63136400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr17:63135000-63135800	Enhancers	H9 Cell Line	embryonic stem cell
26	chr17:63135000-63135800	Enhancers	Thymus	Thymus
27	chr17:63135000-63136600	Enhancers	Lung	lung
28	chr17:63135000-63137200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr17:63135200-63136000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr17:63135200-63136200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr17:63135400-63135600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
32	chr17:63135400-63135800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr17:63135400-63135800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr17:63135400-63135800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
35	chr17:63135400-63135800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
36	chr17:63135400-63135800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr17:63135400-63135800	Flanking Active TSS	GM12878-XiMat	blood
38	chr17:63135400-63136000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
39	chr17:63135400-63136000	Enhancers	Primary hematopoietic stem cells	blood
40	chr17:63135400-63136000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr17:63135400-63136000	Flanking Active TSS	Dnd41	blood
42	chr17:63135400-63136000	Bivalent Enhancer	HepG2	liver
43	chr17:63135400-63136200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
44	chr17:63135400-63136400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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