Variant report

Variant	rs4806471
Chromosome Location	chr19:55759957-55759958
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:55759014-55760684	K562	blood:	n/a	n/a
2	POLR2A	chr19:55759350-55760323	GM12878	blood:	n/a	n/a
3	POLR2A	chr19:55759841-55760079	K562	blood:	n/a	n/a
4	POLR2A	chr19:55759511-55759991	GM12878	blood:	n/a	n/a
5	MXI1	chr19:55758729-55760191	SK-N-SH	brain:	n/a	n/a
6	RAD21	chr19:55758913-55760005	SK-N-SH	brain:	n/a	chr19:55759328-55759347 chr19:55759331-55759344 chr19:55759332-55759342
7	POLR2A	chr19:55758782-55760068	HL-60	blood:	n/a	n/a
8	POLR2A	chr19:55759516-55760130	GM12892	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:55726882..55729830-chr19:55758716..55760558,2	K562	blood:
2	chr19:55720966..55723158-chr19:55759266..55761858,2	MCF-7	breast:
3	chr19:55730765..55733385-chr19:55758766..55760389,2	K562	blood:
4	chr19:55741255..55742770-chr19:55758754..55761177,2	K562	blood:
5	chr19:55748790..55751237-chr19:55759889..55763419,3	K562	blood:
6	chr19:55746865..55748657-chr19:55759581..55761672,2	MCF-7	breast:
7	chr19:55757527..55760012-chr19:55894968..55896931,2	MCF-7	breast:
8	chr19:55753398..55755831-chr19:55759000..55761570,2	K562	blood:

No data

Variant related genes	Relation type
PPP6R1	TF binding region
ENSG00000108107	Chromatin interaction
ENSG00000233493	Chromatin interaction
ENSG00000105063	Chromatin interaction
ENSG00000180089	Chromatin interaction
ENSG00000267649	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12709948	0.91[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4806654	1.00[MEX][hapmap]
rs7251259	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55729400-55766200	Weak transcription	Fetal Brain Male	brain
2	chr19:55735000-55762400	Strong transcription	Thymus	Thymus
3	chr19:55735200-55762200	Strong transcription	Fetal Thymus	thymus
4	chr19:55736800-55760000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr19:55736800-55764200	Strong transcription	Dnd41	blood
6	chr19:55737000-55760000	Strong transcription	Brain Germinal Matrix	brain
7	chr19:55737000-55760600	Strong transcription	Primary T cells from cord blood	blood
8	chr19:55737400-55760000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr19:55737800-55760000	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr19:55738000-55760000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
11	chr19:55740400-55766000	Strong transcription	Fetal Stomach	stomach
12	chr19:55744200-55760200	Strong transcription	HepG2	liver
13	chr19:55745800-55763000	Strong transcription	Fetal Brain Female	brain
14	chr19:55749200-55764400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr19:55749800-55762800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr19:55750800-55767000	Weak transcription	HSMM	muscle
17	chr19:55754200-55762600	Weak transcription	HUVEC	blood vessel
18	chr19:55754400-55765200	Weak transcription	Psoas Muscle	Psoas
19	chr19:55756000-55766400	Weak transcription	Small Intestine	intestine
20	chr19:55756400-55766600	Weak transcription	Fetal Kidney	kidney
21	chr19:55757000-55763000	Weak transcription	Osteobl	bone
22	chr19:55757000-55766200	Weak transcription	NHDF-Ad	bronchial
23	chr19:55757400-55767400	Weak transcription	Fetal Lung	lung
24	chr19:55757600-55767200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr19:55757600-55767600	Weak transcription	HSMMtube	muscle
26	chr19:55757600-55768200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr19:55758000-55760400	Genic enhancers	K562	blood
28	chr19:55758000-55768200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr19:55758200-55760200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr19:55758200-55760200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr19:55758200-55760400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr19:55758200-55762600	Genic enhancers	Primary B cells from peripheral blood	blood
33	chr19:55758200-55762800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr19:55758200-55762800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr19:55758200-55763400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr19:55758200-55763600	Genic enhancers	Spleen	Spleen
37	chr19:55758200-55765200	Genic enhancers	Gastric	stomach
38	chr19:55758400-55760400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr19:55758400-55760800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr19:55758400-55760800	Genic enhancers	Fetal Intestine Small	intestine
41	chr19:55758400-55761000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr19:55758400-55763200	Genic enhancers	Fetal Muscle Trunk	muscle
43	chr19:55758400-55763800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr19:55758400-55764000	Weak transcription	Brain Substantia Nigra	brain
45	chr19:55758400-55765200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr19:55758400-55765400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr19:55758400-55766200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr19:55758400-55767400	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr19:55758400-55767600	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr19:55758400-55769000	Weak transcription	Aorta	Aorta

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