Variant report

Variant	rs59591700
Chromosome Location	chr19:39006269-39006270
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39005684..39006364-chr19:39420571..39421210,2	K562	blood:
2	chr19:39005438..39006386-chr19:39124743..39126011,6	K562	blood:
3	chr19:38969331..38969834-chr19:39005500..39006451,2	MCF-7	breast:
4	chr19:39004430..39007392-chr19:39334905..39337825,2	K562	blood:
5	chr19:39005491..39006744-chr19:39124980..39125890,3	MCF-7	breast:
6	chr19:39005451..39006360-chr19:39420704..39421428,2	MCF-7	breast:
7	chr19:38893719..38894281-chr19:39005837..39006367,2	K562	blood:
8	chr19:39005418..39006382-chr19:39125015..39125812,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000269688	Chromatin interaction
ENSG00000128626	Chromatin interaction
ENSG00000130244	Chromatin interaction
ENSG00000104835	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10500279	0.86[ASN][1000 genomes]
rs11881082	0.86[ASN][1000 genomes]
rs17722095	0.86[ASN][1000 genomes]
rs17722101	0.86[ASN][1000 genomes]
rs17795068	0.86[ASN][1000 genomes]
rs2071088	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2228072	0.88[EUR][1000 genomes]
rs2945047	0.90[ASN][1000 genomes]
rs41274330	0.87[ASN][1000 genomes]
rs58611824	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58875004	0.86[ASN][1000 genomes]
rs60909679	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61441471	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73030976	0.86[EUR][1000 genomes]
rs73030978	0.86[EUR][1000 genomes]
rs73030980	0.88[EUR][1000 genomes]
rs73031001	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73032604	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73032616	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73032620	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73032625	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73032627	0.86[ASN][1000 genomes]
rs73032639	0.83[ASN][1000 genomes]
rs892052	0.88[ASN][1000 genomes]
rs908644	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv470140	chr19:38840139-39119494	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv911660	chr19:38852357-39060238	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv833823	chr19:38855550-39035800	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv911663	chr19:38899548-39101879	Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv833824	chr19:38914618-39084758	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	esv1816081	chr19:38919971-39050479	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	nsv911664	chr19:38924814-39048163	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
9	nsv911665	chr19:38924814-39101879	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv833826	chr19:38945106-39184547	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
11	nsv911666	chr19:38948356-39014184	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
12	nsv833827	chr19:38993054-39184547	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38940000-39006400	Weak transcription	HSMM	muscle
2	chr19:38960800-39034400	Strong transcription	Skeletal Muscle Female	skeletal muscle
3	chr19:38963000-39033000	Strong transcription	Skeletal Muscle Male	skeletal muscle
4	chr19:38985200-39081800	Weak transcription	Psoas Muscle	Psoas
5	chr19:38996200-39007800	Weak transcription	Right Atrium	heart
6	chr19:38997600-39007000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr19:38997600-39025400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr19:38998600-39025000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr19:39000000-39013400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr19:39001000-39025600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr19:39001600-39007200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr19:39003200-39006600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr19:39003400-39006600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr19:39004400-39006400	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr19:39004600-39006400	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr19:39005200-39006400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr19:39005200-39006400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr19:39005200-39006800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr19:39005200-39006800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr19:39005200-39008200	Strong transcription	HSMMtube	muscle
21	chr19:39005400-39006400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr19:39005400-39006400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr19:39005400-39006400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr19:39005400-39006400	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr19:39005400-39006400	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr19:39005400-39006600	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr19:39005400-39006600	Enhancers	Brain Anterior Caudate	brain
28	chr19:39005400-39006600	Enhancers	K562	blood
29	chr19:39005400-39006800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr19:39005600-39006400	Genic enhancers	Fetal Muscle Trunk	muscle
31	chr19:39005600-39006400	Enhancers	Small Intestine	intestine
32	chr19:39005600-39006800	Enhancers	Brain Substantia Nigra	brain
33	chr19:39005600-39006800	Genic enhancers	Fetal Muscle Leg	muscle
34	chr19:39005600-39007000	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr19:39005800-39007400	Enhancers	Brain Germinal Matrix	brain
36	chr19:39005800-39025200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr19:39006000-39006400	Enhancers	Brain Cingulate Gyrus	brain
38	chr19:39006000-39006600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr19:39006200-39006400	Enhancers	HepG2	liver
40	chr19:39006200-39006600	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr19:39006200-39006800	Enhancers	Brain Hippocampus Middle	brain
42	chr19:39006200-39009600	Weak transcription	Placenta	Placenta
43	chr19:39006200-39025400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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