Variant report

Variant	rs73408885
Chromosome Location	chr12:123449105-123449106
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HNF4A	chr12:123448974-123449253	HepG2	liver:	n/a	n/a
2	NR2F2	chr12:123448951-123449938	K562	blood:	n/a	n/a
3	TEAD4	chr12:123449037-123449690	K562	blood:	n/a	n/a
4	RCOR1	chr12:123449017-123449674	K562	blood:	n/a	n/a
5	MAX	chr12:123448927-123449480	MCF-7	breast:	n/a	n/a
6	RCOR1	chr12:123448992-123449212	K562	blood:	n/a	n/a
7	BHLHE40	chr12:123449002-123449277	K562	blood:	n/a	n/a
8	RCOR1	chr12:123447703-123449527	IMR90	lung:	n/a	n/a
9	NR2F2	chr12:123449041-123449651	K562	blood:	n/a	n/a
10	EP300	chr12:123448979-123449323	HepG2	liver:	n/a	n/a
11	POLR2A	chr12:123449073-123449179	HepG2	liver:	n/a	n/a
12	MAZ	chr12:123448936-123449201	HepG2	liver:	n/a	n/a
13	RAD21	chr12:123449065-123449149	HepG2	liver:	n/a	n/a
14	UBTF	chr12:123449036-123449534	K562	blood:	n/a	n/a
15	MAZ	chr12:123448962-123449490	K562	blood:	n/a	n/a
16	HNF4A	chr12:123448952-123449218	HepG2	liver:	n/a	n/a
17	RCOR1	chr12:123449054-123449258	HepG2	liver:	n/a	n/a
18	MAX	chr12:123448913-123449580	K562	blood:	n/a	n/a
19	MYC	chr12:123449059-123449397	K562	blood:	n/a	n/a
20	MAX	chr12:123449101-123449368	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123428831..123431560-chr12:123448558..123451555,2	K562	blood:
2	chr12:123443368..123448710-chr12:123448756..123452152,6	MCF-7	breast:
3	chr12:123379306..123380972-chr12:123447653..123450288,2	K562	blood:
4	chr12:123448459..123450718-chr12:123723367..123726106,2	K562	blood:
5	chr12:123333121..123335890-chr12:123448700..123450563,2	K562	blood:
6	chr12:123428831..123432471-chr12:123448558..123452277,3	K562	blood:
7	chr12:123448314..123450548-chr12:123716239..123719142,3	MCF-7	breast:

No data

Variant related genes	Relation type
ABCB9	TF binding region
ENSG00000051825	Chromatin interaction
ENSG00000139722	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000130787	Chromatin interaction
ENSG00000150967	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs57143069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57190557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57530745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58251569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58283587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58463629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58570201	1.00[AMR][1000 genomes]
rs59107122	1.00[AMR][1000 genomes]
rs59312127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60052793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60442043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60543890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60726563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60817665	0.85[AFR][1000 genomes]
rs61685353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408811	1.00[AMR][1000 genomes]
rs73408817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411044	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73417309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv899576	chr12:123335527-123528405	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv832532	chr12:123395927-123573137	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv832533	chr12:123395927-123589290	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
9	nsv455732	chr12:123427573-123574838	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv560492	chr12:123427573-123574838	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
11	nsv899577	chr12:123435248-123484474	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123412800-123449200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:123413400-123449600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr12:123413600-123450000	Weak transcription	Primary T cells from cord blood	blood
4	chr12:123432200-123450000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:123432200-123450200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr12:123432400-123449600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr12:123432400-123450000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr12:123432600-123450000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:123436600-123449400	Weak transcription	NHDF-Ad	bronchial
10	chr12:123437200-123449800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr12:123437400-123449800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr12:123439600-123450200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr12:123440000-123450000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr12:123441400-123450200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:123443800-123450400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:123444000-123450000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr12:123444800-123449600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:123444800-123449600	Weak transcription	HUVEC	blood vessel
19	chr12:123444800-123450000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:123444800-123450000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr12:123444800-123450200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr12:123445000-123449200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:123445000-123449200	Weak transcription	Dnd41	blood
24	chr12:123445000-123449600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:123445000-123450000	Weak transcription	Aorta	Aorta
26	chr12:123445000-123450200	Weak transcription	Thymus	Thymus
27	chr12:123445000-123450400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:123445800-123450400	Enhancers	Duodenum Mucosa	Duodenum
29	chr12:123445800-123450400	Enhancers	Fetal Brain Male	brain
30	chr12:123445800-123450800	Enhancers	Stomach Mucosa	stomach
31	chr12:123446000-123449200	Enhancers	Right Atrium	heart
32	chr12:123446000-123450000	Enhancers	Fetal Muscle Leg	muscle
33	chr12:123446000-123450000	Enhancers	Pancreas	Pancrea
34	chr12:123446000-123450200	Enhancers	Left Ventricle	heart
35	chr12:123446000-123451400	Enhancers	Fetal Heart	heart
36	chr12:123446600-123449600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr12:123446600-123450200	Enhancers	Right Ventricle	heart
38	chr12:123446600-123450400	Enhancers	Placenta	Placenta
39	chr12:123447200-123449400	Weak transcription	Fetal Intestine Large	intestine
40	chr12:123447400-123449600	Weak transcription	NHEK	skin
41	chr12:123447400-123450000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr12:123447400-123450200	Weak transcription	GM12878-XiMat	blood
43	chr12:123447600-123450400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr12:123447800-123450000	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr12:123447800-123450400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:123448000-123449200	Enhancers	HepG2	liver
47	chr12:123448000-123449400	Enhancers	Fetal Lung	lung
48	chr12:123448000-123449800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:123448000-123449800	Enhancers	Adipose Nuclei	Adipose
50	chr12:123448000-123449800	Enhancers	NHLF	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links