Variant report

Variant	rs8105032
Chromosome Location	chr19:55781689-55781690
allele	C/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55781147..55783926-chr19:55791213..55793069,2	K562	blood:
2	chr19:55779224..55783454-chr19:55783961..55787688,4	MCF-7	breast:
3	chr19:55777829..55780737-chr19:55781551..55785308,5	K562	blood:
4	chr19:55781376..55784377-chr19:55785140..55788292,4	K562	blood:
5	chr19:55780112..55782916-chr19:55901581..55903406,2	MCF-7	breast:
6	chr19:55781415..55783926-chr19:55789900..55793069,3	K562	blood:
7	chr19:55774274..55779427-chr19:55781222..55784326,4	MCF-7	breast:
8	chr19:55767980..55772486-chr19:55779343..55783003,7	K562	blood:
9	chr19:55771722..55774869-chr19:55779849..55782643,3	MCF-7	breast:
10	chr19:55781030..55783901-chr19:55788247..55790308,2	K562	blood:
11	chr19:55777858..55780757-chr19:55781409..55785312,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000105063	Chromatin interaction
ENSG00000133265	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10403164	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs10404178	0.86[AMR][1000 genomes]
rs10411896	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10412187	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs11665832	0.95[ASN][1000 genomes]
rs11667472	0.95[ASN][1000 genomes]
rs11672710	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11672774	0.95[ASN][1000 genomes]
rs11880758	0.88[AFR][1000 genomes]
rs2113113	0.83[AMR][1000 genomes]
rs35159664	0.95[ASN][1000 genomes]
rs3848608	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs3848610	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs4806652	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs4806655	0.85[AMR][1000 genomes]
rs62126346	0.95[ASN][1000 genomes]
rs62126347	0.95[ASN][1000 genomes]
rs62126348	0.95[ASN][1000 genomes]
rs62126352	0.95[ASN][1000 genomes]
rs62126357	0.95[ASN][1000 genomes]
rs6509938	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs8104509	1.00[CHB][hapmap];0.85[JPT][hapmap]

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	esv1816335	chr19:55683977-55901099	Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1065760	chr19:55721521-55929740	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
3	nsv912454	chr19:55725410-55783552	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription 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 miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv912455	chr19:55725410-55879872	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv912456	chr19:55725410-55925500	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
6	nsv912457	chr19:55725410-56019597	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	228 gene(s)	inside rSNPs	diseases
7	nsv912458	chr19:55763409-55823822	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55771400-55783600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:55771400-55784800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:55771400-55787800	Weak transcription	Osteobl	bone
4	chr19:55771400-55788400	Weak transcription	Stomach Mucosa	stomach
5	chr19:55771400-55790400	Weak transcription	HSMM	muscle
6	chr19:55771400-55790400	Weak transcription	NHDF-Ad	bronchial
7	chr19:55771400-55791600	Weak transcription	Fetal Heart	heart
8	chr19:55771600-55781800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr19:55771600-55781800	Weak transcription	Aorta	Aorta
10	chr19:55771600-55782600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr19:55771600-55783400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr19:55771600-55783400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr19:55771600-55783600	Weak transcription	Placenta	Placenta
14	chr19:55771600-55785200	Weak transcription	Colon Smooth Muscle	Colon
15	chr19:55771600-55788000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr19:55771600-55790400	Weak transcription	HUVEC	blood vessel
17	chr19:55771800-55783000	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr19:55771800-55788000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr19:55772000-55781800	Weak transcription	HSMMtube	muscle
20	chr19:55772000-55783000	Weak transcription	HepG2	liver
21	chr19:55772000-55783400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr19:55772000-55783400	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr19:55772000-55783600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:55772000-55784200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr19:55772000-55784800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr19:55772200-55782600	Weak transcription	Primary B cells from peripheral blood	blood
27	chr19:55772200-55784200	Weak transcription	Fetal Thymus	thymus
28	chr19:55772200-55787400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr19:55772200-55790400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr19:55772400-55789800	Strong transcription	Fetal Muscle Trunk	muscle
31	chr19:55772800-55790200	Strong transcription	Fetal Stomach	stomach
32	chr19:55774000-55783000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr19:55774000-55784200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr19:55774400-55783600	Weak transcription	Left Ventricle	heart
35	chr19:55774400-55790400	Weak transcription	Psoas Muscle	Psoas
36	chr19:55777200-55783400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr19:55777800-55784600	Weak transcription	Colonic Mucosa	Colon
38	chr19:55777800-55788000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr19:55778000-55781800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr19:55778000-55782200	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr19:55778000-55783000	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr19:55778000-55783600	Weak transcription	Brain Hippocampus Middle	brain
43	chr19:55778000-55788200	Weak transcription	Brain Angular Gyrus	brain
44	chr19:55778200-55781800	Weak transcription	NHEK	skin
45	chr19:55778200-55783600	Weak transcription	Fetal Lung	lung
46	chr19:55778200-55784400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr19:55778200-55784800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr19:55778200-55787600	Weak transcription	Hela-S3	cervix
49	chr19:55778200-55788200	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr19:55778200-55790200	Weak transcription	Fetal Brain Male	brain

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