Variant report

Variant	rs310461
Chromosome Location	chr19:56112994-56112995
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:56110141-56113242	HepG2	liver:	n/a	n/a
2	POLR2A	chr19:56109976-56113063	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr19:56110094-56113067	GM12891	blood:	n/a	n/a
4	POLR2A	chr19:56112448-56113079	HUVEC	blood vessel:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55896562..55899346-chr19:56111616..56113771,2	MCF-7	breast:
2	chr19:56109995..56114029-chr19:56145200..56149074,4	MCF-7	breast:
3	chr19:55986046..55989016-chr19:56110567..56114260,3	K562	blood:
4	chr19:56111889..56113389-chr19:56150627..56153013,2	K562	blood:
5	chr19:56110653..56113509-chr19:56160158..56165183,5	MCF-7	breast:
6	chr19:55789004..55791837-chr19:56110524..56113034,2	K562	blood:
7	chr19:56109378..56114662-chr19:56134412..56139001,15	K562	blood:
8	chr19:55972027..55974548-chr19:56111000..56113265,2	MCF-7	breast:
9	chr19:56087311..56094258-chr19:56108819..56113699,11	K562	blood:
10	chr19:56087628..56093963-chr19:56108517..56113906,9	MCF-7	breast:
11	chr19:56110523..56113100-chr19:56152133..56154992,3	K562	blood:
12	chr19:56091409..56094452-chr19:56108819..56113428,6	K562	blood:
13	chr19:55917877..55920503-chr19:56111114..56113096,2	K562	blood:
14	chr19:56110285..56113089-chr19:56164482..56167654,4	MCF-7	breast:
15	chr19:55971482..55974428-chr19:56110628..56113037,3	K562	blood:

No data

Variant related genes	Relation type
FIZ1	TF binding region
ZNF865	TF binding region
ZNF524	TF binding region
ENSG00000108107	Chromatin interaction
ENSG00000179922	Chromatin interaction
ENSG00000213015	Chromatin interaction
ENSG00000218891	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000133265	Chromatin interaction
ENSG00000171425	Chromatin interaction
ENSG00000063244	Chromatin interaction
ENSG00000063241	Chromatin interaction
ENSG00000173581	Chromatin interaction
ENSG00000269859	Chromatin interaction
ENSG00000197483	Chromatin interaction
ENSG00000267730	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1423053	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1423054	0.92[ASN][1000 genomes]
rs2902749	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs310458	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs310459	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs310460	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs310462	0.97[ASN][1000 genomes]
rs497264	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs498199	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs609075	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv912486	chr19:55977909-56145428	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv912487	chr19:55977909-56215184	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv912494	chr19:56026072-56215184	Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
5	nsv912495	chr19:56033088-56132661	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv912496	chr19:56040051-56145428	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers 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 target site	55 gene(s)	inside rSNPs	diseases
7	nsv912497	chr19:56041848-56145428	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
8	nsv912498	chr19:56041848-56215184	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
9	nsv828643	chr19:56059280-56154823	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS 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 target site	67 gene(s)	inside rSNPs	diseases
10	nsv912499	chr19:56071293-56132487	Flanking Active TSS Genic enhancers Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv912500	chr19:56078722-56175515	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
12	nsv912501	chr19:56093365-56215184	Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
13	nsv912502	chr19:56099884-56138575	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56109800-56113000	Active TSS	Brain Germinal Matrix	brain
2	chr19:56111600-56116000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr19:56111800-56113000	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr19:56112000-56113000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
5	chr19:56112000-56113000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr19:56112000-56113000	Flanking Active TSS	Dnd41	blood
7	chr19:56112000-56113200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr19:56112200-56113000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr19:56112200-56113000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr19:56112200-56113000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr19:56112200-56113000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr19:56112200-56113000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr19:56112200-56113000	Flanking Active TSS	Brain Substantia Nigra	brain
14	chr19:56112200-56113000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr19:56112200-56113000	Flanking Active TSS	GM12878-XiMat	blood
16	chr19:56112200-56113000	Flanking Active TSS	HepG2	liver
17	chr19:56112200-56113000	Flanking Active TSS	HMEC	breast
18	chr19:56112200-56113000	Flanking Active TSS	K562	blood
19	chr19:56112200-56113200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr19:56112200-56113200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr19:56112200-56113200	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr19:56112200-56113200	Flanking Active TSS	NHEK	skin
23	chr19:56112200-56113400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr19:56112200-56113400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr19:56112200-56116000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr19:56112400-56113000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr19:56112400-56113000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr19:56112400-56113000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr19:56112400-56113000	Enhancers	Small Intestine	intestine
30	chr19:56112400-56113200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr19:56112400-56113400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr19:56112400-56113600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr19:56112400-56113600	Enhancers	Spleen	Spleen
34	chr19:56112400-56114600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr19:56112400-56114600	Enhancers	Gastric	stomach
36	chr19:56112400-56116000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr19:56112400-56116000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr19:56112400-56116400	Weak transcription	Aorta	Aorta
39	chr19:56112600-56113000	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr19:56112600-56113000	Enhancers	H1 Cell Line	embryonic stem cell
41	chr19:56112600-56113000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr19:56112600-56113000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr19:56112600-56113000	Enhancers	Liver	Liver
44	chr19:56112600-56113000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr19:56112600-56113000	Enhancers	Fetal Heart	heart
46	chr19:56112600-56113000	Enhancers	Fetal Intestine Small	intestine
47	chr19:56112600-56113000	Enhancers	Fetal Stomach	stomach
48	chr19:56112600-56113000	Enhancers	Osteobl	bone
49	chr19:56112600-56113200	Enhancers	Primary B cells from peripheral blood	blood
50	chr19:56112600-56113200	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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