Variant report

Variant	rs73831468
Chromosome Location	chr3:47049238-47049239
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:47049035-47050164	GM19193	blood:	n/a	n/a
2	POLR2A	chr3:47047749-47050555	K562	blood:	n/a	n/a
3	POLR2A	chr3:47049030-47049693	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr3:47048413-47049688	K562	blood:	n/a	n/a
5	POLR2A	chr3:47049101-47050318	K562	blood:	n/a	n/a
6	POLR2A	chr3:47048705-47050300	GM12891	blood:	n/a	n/a
7	POLR2A	chr3:47049215-47049969	HL-60	blood:	n/a	n/a
8	POLR2A	chr3:47049048-47049776	A549	lung:	n/a	n/a
9	POLR2A	chr3:47048988-47050148	MCF-7	breast:	n/a	n/a
10	POLR2A	chr3:47048399-47050238	GM12891	blood:	n/a	n/a
11	POLR2A	chr3:47048345-47050224	HL-60	blood:	n/a	n/a
12	POLR2A	chr3:47049227-47049493	A549	lung:	n/a	n/a
13	POLR2A	chr3:47046526-47050420	GM12892	blood:	n/a	n/a
14	POLR2A	chr3:47049216-47049247	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr3:47048978-47049813	GM12891	blood:	n/a	n/a
16	POLR2A	chr3:47048396-47050594	K562	blood:	n/a	n/a
17	POLR2A	chr3:47048865-47050204	GM12878	blood:	n/a	n/a
18	POLR2A	chr3:47049154-47049872	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr3:47047465-47053345	GM12878	blood:	n/a	n/a
20	POLR2A	chr3:47047456-47050300	GM12892	blood:	n/a	n/a
21	POLR2A	chr3:47048991-47049725	GM12878	blood:	n/a	n/a
22	POLR2A	chr3:47048470-47050149	GM12878	blood:	n/a	n/a
23	POLR2A	chr3:47048281-47050136	GM12892	blood:	n/a	n/a
24	POLR2A	chr3:47049072-47049480	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr3:47048349-47050909	K562	blood:	n/a	n/a
26	POLR2A	chr3:47049213-47049678	A549	lung:	n/a	n/a
27	POLR2A	chr3:47048245-47050391	GM12892	blood:	n/a	n/a
28	POLR2A	chr3:47047473-47049861	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:47047312..47050228-chr3:47050509..47055807,4	MCF-7	breast:
2	chr3:47042301..47045391-chr3:47048299..47050590,3	MCF-7	breast:

No data

Variant related genes	Relation type
NRADDP	TF binding region
NBEAL2	TF binding region
ENSG00000236409	Chromatin interaction
ENSG00000160796	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs55633581	1.00[AMR][1000 genomes]
rs55646108	1.00[AMR][1000 genomes]
rs55727789	1.00[AMR][1000 genomes]
rs55730344	1.00[AMR][1000 genomes]
rs55832326	1.00[AMR][1000 genomes]
rs56329054	1.00[AMR][1000 genomes]
rs57114752	1.00[AMR][1000 genomes]
rs57341796	1.00[AMR][1000 genomes]
rs58040348	1.00[AMR][1000 genomes]
rs58529346	1.00[AMR][1000 genomes]
rs58558054	1.00[AMR][1000 genomes]
rs58918862	1.00[AMR][1000 genomes]
rs59614145	1.00[AMR][1000 genomes]
rs59846120	1.00[AMR][1000 genomes]
rs60017851	1.00[AMR][1000 genomes]
rs60100816	1.00[AMR][1000 genomes]
rs60444519	1.00[AMR][1000 genomes]
rs73831409	1.00[AMR][1000 genomes]
rs73831411	1.00[AMR][1000 genomes]
rs73831412	1.00[AMR][1000 genomes]
rs73831414	1.00[AMR][1000 genomes]
rs73831415	1.00[AMR][1000 genomes]
rs73831421	1.00[AMR][1000 genomes]
rs73831424	1.00[AMR][1000 genomes]
rs73831425	1.00[AMR][1000 genomes]
rs73831428	1.00[AMR][1000 genomes]
rs73831430	1.00[AMR][1000 genomes]
rs73831431	1.00[AMR][1000 genomes]
rs73831432	1.00[AMR][1000 genomes]
rs73831444	1.00[AMR][1000 genomes]
rs73831445	1.00[AMR][1000 genomes]
rs73831446	1.00[AMR][1000 genomes]
rs73831448	1.00[AMR][1000 genomes]
rs73831449	1.00[AMR][1000 genomes]
rs73831450	1.00[AMR][1000 genomes]
rs73831451	1.00[AMR][1000 genomes]
rs73831453	1.00[AMR][1000 genomes]
rs73831454	1.00[AMR][1000 genomes]
rs73831455	1.00[AMR][1000 genomes]
rs73831457	1.00[AMR][1000 genomes]
rs73831458	1.00[AMR][1000 genomes]
rs73831459	1.00[AMR][1000 genomes]
rs73831466	1.00[AMR][1000 genomes]
rs73831467	1.00[AMR][1000 genomes]
rs73831469	1.00[AMR][1000 genomes]
rs73831471	1.00[AMR][1000 genomes]
rs73831472	1.00[AMR][1000 genomes]
rs73831474	1.00[AMR][1000 genomes]
rs73831477	1.00[AMR][1000 genomes]
rs73831479	1.00[AMR][1000 genomes]
rs73831480	1.00[AMR][1000 genomes]
rs73831481	1.00[AMR][1000 genomes]
rs73831483	1.00[AMR][1000 genomes]
rs73831485	1.00[AMR][1000 genomes]
rs73831488	1.00[AMR][1000 genomes]
rs73831492	1.00[AMR][1000 genomes]
rs73831493	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876755	chr3:46895109-47061183	Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3461834	chr3:46977730-47173228	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv3461835	chr3:46977822-47173168	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	esv3461836	chr3:46977822-47173168	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS 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	28 gene(s)	inside rSNPs	diseases
5	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
6	esv1800172	chr3:47013346-47049306	Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv590209	chr3:47018214-47050784	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
8	nsv876757	chr3:47018214-47058057	Active TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47022600-47050600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:47029800-47050600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr3:47031000-47049600	Strong transcription	Gastric	stomach
4	chr3:47031000-47050200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr3:47031000-47053000	Strong transcription	Dnd41	blood
6	chr3:47032200-47050000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr3:47034200-47049800	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr3:47038000-47050000	Strong transcription	Thymus	Thymus
9	chr3:47038600-47050000	Strong transcription	Fetal Stomach	stomach
10	chr3:47038600-47050400	Weak transcription	Fetal Lung	lung
11	chr3:47039000-47050000	Strong transcription	Adipose Nuclei	Adipose
12	chr3:47039800-47050200	Strong transcription	Colonic Mucosa	Colon
13	chr3:47039800-47058000	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr3:47040000-47049400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr3:47040000-47050400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:47040200-47049800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr3:47040200-47049800	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr3:47040400-47049600	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr3:47040400-47050000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr3:47040400-47050000	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr3:47040400-47050000	Strong transcription	Spleen	Spleen
22	chr3:47040400-47050400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr3:47040400-47050400	Strong transcription	Duodenum Mucosa	Duodenum
24	chr3:47040400-47050400	Weak transcription	Right Atrium	heart
25	chr3:47040600-47049600	Strong transcription	Right Ventricle	heart
26	chr3:47040600-47049800	Strong transcription	Primary T cells from cord blood	blood
27	chr3:47040600-47049800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr3:47040600-47050000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr3:47040600-47050200	Strong transcription	Stomach Mucosa	stomach
30	chr3:47040600-47050400	Weak transcription	Fetal Kidney	kidney
31	chr3:47040600-47051000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr3:47040600-47051400	Weak transcription	Fetal Heart	heart
33	chr3:47040800-47049600	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr3:47040800-47050200	Strong transcription	Fetal Intestine Small	intestine
35	chr3:47040800-47050200	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr3:47041200-47050000	Strong transcription	Fetal Intestine Large	intestine
37	chr3:47041200-47050200	Weak transcription	Brain Angular Gyrus	brain
38	chr3:47042000-47050200	Strong transcription	A549	lung
39	chr3:47042200-47050400	Weak transcription	NHDF-Ad	bronchial
40	chr3:47042200-47053000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr3:47042400-47050200	Strong transcription	NHEK	skin
42	chr3:47042400-47050400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr3:47042400-47050400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr3:47042600-47050200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr3:47042600-47050400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr3:47042600-47050400	Weak transcription	NHLF	lung
47	chr3:47042800-47049600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr3:47042800-47049800	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr3:47043200-47050200	Weak transcription	Brain Substantia Nigra	brain
50	chr3:47043200-47050200	Strong transcription	Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links