Variant report

Variant	rs17722095
Chromosome Location	chr19:39036569-39036570
allele	C/T
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39035426..39037334-chr19:39139289..39140832,2	K562	blood:
2	chr19:39034364..39037284-chr19:39108616..39110630,2	K562	blood:
3	chr19:39033262..39037138-chr19:39114289..39118400,4	K562	blood:
4	chr19:38951538..38953611-chr19:39035456..39038099,2	K562	blood:
5	chr19:39033355..39037027-chr19:39040774..39043679,3	K562	blood:
6	chr19:39034798..39036647-chr19:39056584..39059105,2	MCF-7	breast:
7	chr19:39033295..39037284-chr19:39108058..39111883,5	K562	blood:
8	chr19:39033844..39036603-chr19:39138294..39139887,2	K562	blood:
9	chr19:39033384..39036751-chr19:39123967..39127917,4	K562	blood:
10	chr19:39035080..39036958-chr19:39218564..39220441,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000178982	Chromatin interaction
ENSG00000130402	Chromatin interaction
ENSG00000104814	Chromatin interaction
ENSG00000196218	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10500279	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11881082	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17722101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17795068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2071088	0.88[CEU][hapmap];0.82[JPT][hapmap]
rs2945047	0.96[ASN][1000 genomes]
rs41274330	0.99[ASN][1000 genomes]
rs58611824	0.96[ASN][1000 genomes]
rs58875004	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59591700	0.86[ASN][1000 genomes]
rs60909679	0.96[ASN][1000 genomes]
rs61441471	0.97[ASN][1000 genomes]
rs73031001	0.92[ASN][1000 genomes]
rs73032604	0.97[ASN][1000 genomes]
rs73032616	0.97[ASN][1000 genomes]
rs73032620	0.97[ASN][1000 genomes]
rs73032625	0.97[ASN][1000 genomes]
rs73032627	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73032639	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73032648	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs892052	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs908644	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv1058902	chr19:39025940-39078574	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv1064490	chr19:39029788-39078574	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38985200-39081800	Weak transcription	Psoas Muscle	Psoas
2	chr19:39026000-39052400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:39029000-39051600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr19:39029600-39046000	Weak transcription	HSMM	muscle
5	chr19:39030000-39054600	Strong transcription	Fetal Muscle Leg	muscle
6	chr19:39030200-39055200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr19:39033600-39036600	Strong transcription	HSMMtube	muscle
8	chr19:39034600-39051800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:39035000-39039400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr19:39035200-39036800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr19:39035200-39038600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr19:39035200-39039000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr19:39035200-39042400	Weak transcription	Spleen	Spleen
14	chr19:39035200-39052600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr19:39035200-39066400	Strong transcription	Skeletal Muscle Male	skeletal muscle
16	chr19:39035400-39036600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr19:39035400-39036800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr19:39035400-39036800	Enhancers	Adipose Nuclei	Adipose
19	chr19:39035400-39038800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr19:39035600-39036600	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr19:39035600-39036800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr19:39035600-39038000	Weak transcription	Primary B cells from cord blood	blood
23	chr19:39035600-39050800	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr19:39035600-39051800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr19:39035600-39052000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr19:39035600-39052000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr19:39035600-39052000	Weak transcription	Brain Hippocampus Middle	brain
28	chr19:39035800-39036600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr19:39035800-39036800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr19:39035800-39037800	Weak transcription	Primary B cells from peripheral blood	blood
31	chr19:39035800-39038800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr19:39035800-39041400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr19:39035800-39041800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr19:39035800-39044600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr19:39035800-39044600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr19:39035800-39045000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr19:39035800-39047400	Weak transcription	A549	lung
38	chr19:39035800-39051800	Weak transcription	Brain Anterior Caudate	brain
39	chr19:39036000-39037200	Enhancers	K562	blood
40	chr19:39036000-39038000	Weak transcription	GM12878-XiMat	blood
41	chr19:39036000-39038200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr19:39036000-39041000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr19:39036000-39051800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr19:39036000-39076400	Weak transcription	Brain Substantia Nigra	brain
45	chr19:39036400-39036800	Strong transcription	Fetal Muscle Trunk	muscle
46	chr19:39036400-39036800	Enhancers	Osteobl	bone

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