Variant report

Variant	rs1124917
Chromosome Location	chr19:55916936-55916937
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:55916783-55920340	K562	blood:	n/a	n/a
2	POLR2A	chr19:55916858-55918495	GM12878	blood:	n/a	n/a
3	HEY1	chr19:55916730-55920098	K562	blood:	n/a	chr19:55919237-55919246 chr19:55919062-55919077 chr19:55919235-55919244 chr19:55919465-55919480
4	POLR2A	chr19:55916870-55917439	K562	blood:	n/a	n/a
5	POLR2A	chr19:55916859-55918161	U87	brain:	n/a	n/a
6	POLR2A	chr19:55916759-55920151	GM12878	blood:	n/a	n/a
7	POLR2A	chr19:55916824-55917625	GM12892	blood:	n/a	n/a
8	POLR2A	chr19:55916849-55919314	A549	lung:	n/a	n/a
9	POLR2A	chr19:55916877-55917377	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr19:55916857-55920117	U87	brain:	n/a	n/a
11	POLR2A	chr19:55916752-55920589	PFSK-1	brain:	n/a	n/a
12	POLR2A	chr19:55916895-55917366	GM12891	blood:	n/a	n/a
13	POLR2A	chr19:55916918-55920379	GM12878	blood:	n/a	n/a
14	POLR2A	chr19:55916850-55917443	K562	blood:	n/a	n/a
15	POLR2A	chr19:55916768-55917344	GM12878	blood:	n/a	n/a
16	POLR2A	chr19:55916818-55920368	PANC-1	pancreas:	n/a	n/a
17	POLR2A	chr19:55916868-55920104	GM12878	blood:	n/a	n/a
18	JUND	chr19:55916873-55917660	A549	lung:	n/a	n/a
19	POLR2A	chr19:55916729-55917959	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr19:55916713-55920478	GM12892	blood:	n/a	n/a
21	POLR2A	chr19:55916750-55920472	K562	blood:	n/a	n/a
22	POLR2A	chr19:55916853-55917405	A549	lung:	n/a	n/a
23	POLR2A	chr19:55916851-55920224	U87	brain:	n/a	n/a
24	POLR2A	chr19:55916709-55920373	GM12878	blood:	n/a	n/a
25	POLR2A	chr19:55916819-55917147	HCT-116	colon:	n/a	n/a
26	POLR2A	chr19:55916901-55917277	H1-hESC	embryonic stem cell:	n/a	n/a
27	WRNIP1	chr19:55916906-55918372	GM12878	blood:	n/a	n/a
28	POLR2A	chr19:55916892-55917423	Hela-S3	cervix:	n/a	n/a
29	CHD1	chr19:55916750-55920300	IMR90	lung:	n/a	n/a
30	HEY1	chr19:55916899-55917382	K562	blood:	n/a	n/a
31	POLR2A	chr19:55916817-55920287	HL-60	blood:	n/a	n/a
32	POLR2A	chr19:55916629-55920428	SK-N-MC	brain:	n/a	n/a
33	POLR2A	chr19:55916831-55920334	PANC-1	pancreas:	n/a	n/a
34	POLR2A	chr19:55916917-55917091	A549	lung:	n/a	n/a
35	POLR2A	chr19:55916925-55918238	GM12891	blood:	n/a	n/a
36	POLR2A	chr19:55916859-55917182	U87	brain:	n/a	n/a

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55809572..55814180-chr19:55916301..55919700,7	K562	blood:
2	chr19:55790204..55793295-chr19:55914436..55917425,4	K562	blood:
3	chr19:55723660..55729639-chr19:55916052..55920716,13	K562	blood:
4	chr19:55849530..55854944-chr19:55915448..55920939,7	K562	blood:
5	chr19:55916632..55921194-chr19:56143912..56146949,5	K562	blood:
6	chr19:55915948..55921315-chr19:55958410..55968133,14	K562	blood:
7	chr19:55915902..55921022-chr19:55996597..56001074,7	K562	blood:
8	chr19:55916846..55917755-chr8:66545928..66546703,2	Hela-S3	cervix:
9	chr19:55811395..55814060-chr19:55915860..55921148,5	MCF-7	breast:
10	chr19:55814995..55818347-chr19:55916195..55920993,4	K562	blood:
11	chr19:55790480..55793295-chr19:55915028..55917425,3	K562	blood:
12	chr19:55725879..55730013-chr19:55916052..55921296,12	K562	blood:
13	chr19:54974126..54976870-chr19:55916599..55919273,2	K562	blood:
14	chr19:55874602..55877064-chr19:55916927..55920725,3	K562	blood:
15	chr19:55850926..55852723-chr19:55915880..55917552,2	K562	blood:
16	chr19:55915993..55918955-chr19:56157443..56159330,2	K562	blood:
17	chr19:55916326..55922315-chr19:55969733..55974780,9	MCF-7	breast:
18	chr19:55911623..55913706-chr19:55914461..55917038,2	MCF-7	breast:
19	chr19:55915645..55917766-chr19:55986394..55988537,3	K562	blood:
20	chr19:55666935..55669845-chr19:55916166..55917712,2	K562	blood:
21	chr19:55590620..55592858-chr19:55916927..55919392,2	K562	blood:

No data

Variant related genes	Relation type
UBE2S	TF binding region
ENSG00000160469	Chromatin interaction
ENSG00000267531	Chromatin interaction
ENSG00000171425	Chromatin interaction
ENSG00000104442	Chromatin interaction
ENSG00000267649	Chromatin interaction
ENSG00000197483	Chromatin interaction
ENSG00000090971	Chromatin interaction
ENSG00000133247	Chromatin interaction
ENSG00000182909	Chromatin interaction
ENSG00000213015	Chromatin interaction
ENSG00000179954	Chromatin interaction
ENSG00000129991	Chromatin interaction
ENSG00000133265	Chromatin interaction
ENSG00000269859	Chromatin interaction
ENSG00000180043	Chromatin interaction
ENSG00000063241	Chromatin interaction
ENSG00000131037	Chromatin interaction
ENSG00000267093	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10403361	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10414353	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10415761	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12460492	1.00[ASN][1000 genomes]
rs12462594	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12977195	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12977341	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12979229	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12979256	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12985701	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13343706	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16986359	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28411209	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28454071	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28635028	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2891577	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73606242	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73619625	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv432086	chr19:55807586-56050844	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
5	nsv912462	chr19:55845386-55925500	Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
6	nsv912463	chr19:55845386-56004901	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
7	nsv912464	chr19:55850269-55921164	Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
8	nsv912465	chr19:55854313-55935184	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
9	nsv912473	chr19:55874642-56145428	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55900200-55918400	Weak transcription	Psoas Muscle	Psoas
2	chr19:55900600-55917600	Weak transcription	Stomach Mucosa	stomach
3	chr19:55901000-55917800	Weak transcription	Right Atrium	heart
4	chr19:55902200-55917400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr19:55910200-55917000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr19:55910800-55917200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr19:55910800-55917600	Strong transcription	Brain Anterior Caudate	brain
8	chr19:55911000-55917000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr19:55911000-55917000	Strong transcription	Primary B cells from peripheral blood	blood
10	chr19:55911000-55917000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr19:55911000-55917000	Strong transcription	Fetal Intestine Large	intestine
12	chr19:55911000-55917000	Strong transcription	Stomach Smooth Muscle	stomach
13	chr19:55911200-55917000	Strong transcription	Fetal Stomach	stomach
14	chr19:55911200-55917200	Strong transcription	Brain Hippocampus Middle	brain
15	chr19:55911400-55917000	Strong transcription	Duodenum Mucosa	Duodenum
16	chr19:55911600-55917000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr19:55911600-55917000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr19:55911600-55917000	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr19:55911800-55917000	Strong transcription	H9 Cell Line	embryonic stem cell
20	chr19:55911800-55917000	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr19:55911800-55917000	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr19:55911800-55917200	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr19:55911800-55917200	Strong transcription	Fetal Intestine Small	intestine
24	chr19:55911800-55917200	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr19:55911800-55917400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr19:55911800-55917400	Strong transcription	Adipose Nuclei	Adipose
27	chr19:55911800-55917400	Strong transcription	Lung	lung
28	chr19:55912000-55917200	Strong transcription	Brain Angular Gyrus	brain
29	chr19:55912400-55917200	Strong transcription	Colonic Mucosa	Colon
30	chr19:55912600-55917000	Strong transcription	NHEK	skin
31	chr19:55913400-55918200	Transcr. at gene 5' and 3'	Hela-S3	cervix
32	chr19:55913800-55917000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr19:55914000-55917000	Genic enhancers	HMEC	breast
34	chr19:55914000-55917200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr19:55914600-55917000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr19:55914600-55917000	Weak transcription	Pancreas	Pancrea
37	chr19:55914600-55917000	Weak transcription	HepG2	liver
38	chr19:55914600-55917000	Genic enhancers	HUVEC	blood vessel
39	chr19:55914600-55917000	Genic enhancers	Osteobl	bone
40	chr19:55914600-55917200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr19:55914600-55917400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr19:55914600-55917800	Weak transcription	Aorta	Aorta
43	chr19:55914600-55918200	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr19:55914800-55917400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr19:55915000-55917000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr19:55915000-55917200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr19:55915000-55917200	Weak transcription	Right Ventricle	heart
48	chr19:55915200-55917400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr19:55915200-55917400	Enhancers	Fetal Heart	heart
50	chr19:55915400-55917000	Genic enhancers	K562	blood

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