Variant report

Variant	rs2456044
Chromosome Location	chr15:76490667-76490668
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:76488936..76490866-chr15:76603480..76605348,2	MCF-7	breast:
2	chr15:76489752..76492594-chr15:76628754..76630476,2	K562	blood:
3	chr15:76484853..76487491-chr15:76488798..76492049,5	K562	blood:
4	chr15:76489835..76492594-chr15:76628976..76630921,2	K562	blood:
5	chr15:76490388..76492553-chr15:76494551..76496076,2	MCF-7	breast:
6	chr15:76487373..76491413-chr15:76492592..76495149,4	K562	blood:
7	chr15:76488844..76490782-chr15:76625306..76628294,2	K562	blood:
8	chr15:76489717..76491571-chr15:76503812..76506764,2	K562	blood:
9	chr15:76486525..76491130-chr15:76491292..76495169,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000140374	Chromatin interaction
ENSG00000159556	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10220790	1.00[AMR][1000 genomes]
rs12708522	0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs1533600	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1810347	1.00[AMR][1000 genomes]
rs1814764	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1875886	1.00[AMR][1000 genomes]
rs1878877	0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs2037306	1.00[AMR][1000 genomes]
rs2176622	0.93[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2244050	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2245180	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2247488	0.93[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2250805	0.93[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2405329	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2405330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2405332	1.00[AMR][1000 genomes]
rs2456030	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs2456032	1.00[AMR][1000 genomes]
rs2456034	1.00[AMR][1000 genomes]
rs2456035	1.00[AMR][1000 genomes]
rs2456036	1.00[AMR][1000 genomes]
rs2456037	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs2456038	1.00[AMR][1000 genomes]
rs2456039	1.00[AMR][1000 genomes]
rs2456043	0.83[AMR][1000 genomes]
rs2456056	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2456058	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2456059	0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs2456062	1.00[AMR][1000 genomes]
rs2456064	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2456068	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs2456069	1.00[AMR][1000 genomes]
rs2456077	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2460141	1.00[AMR][1000 genomes]
rs2460143	0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs2460145	0.93[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2460149	1.00[AMR][1000 genomes]
rs2460157	1.00[AMR][1000 genomes]
rs2460159	1.00[AMR][1000 genomes]
rs2469209	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2469217	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs2469218	0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs2469219	1.00[AMR][1000 genomes]
rs2469220	1.00[AMR][1000 genomes]
rs2469221	1.00[AMR][1000 genomes]
rs2469223	1.00[AMR][1000 genomes]
rs2469536	0.93[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469537	0.93[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469540	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469545	0.93[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469546	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2469549	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs2469550	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs2469551	1.00[AMR][1000 genomes]
rs2469553	1.00[AMR][1000 genomes]
rs2469571	1.00[AMR][1000 genomes]
rs2469572	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs2469574	0.81[YRI][hapmap];1.00[AMR][1000 genomes]
rs284889	1.00[AMR][1000 genomes]
rs284890	1.00[AMR][1000 genomes]
rs284894	0.83[AMR][1000 genomes]
rs2938692	1.00[AMR][1000 genomes]
rs2938693	1.00[AMR][1000 genomes]
rs2938694	0.83[AMR][1000 genomes]
rs2938696	1.00[AMR][1000 genomes]
rs2938698	1.00[AMR][1000 genomes]
rs2944379	1.00[AMR][1000 genomes]
rs2944380	1.00[AMR][1000 genomes]
rs2948702	1.00[AMR][1000 genomes]
rs2956872	1.00[AMR][1000 genomes]
rs2957558	1.00[AMR][1000 genomes]
rs2957608	1.00[AMR][1000 genomes]
rs4886797	1.00[AMR][1000 genomes]
rs6495202	1.00[AMR][1000 genomes]
rs7164815	1.00[AMR][1000 genomes]
rs8040818	1.00[AMR][1000 genomes]
rs937731	1.00[AMR][1000 genomes]
rs937734	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv569998	chr15:76232605-76550938	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1048760	chr15:76334544-76496977	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv833057	chr15:76367848-76585868	ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1054713	chr15:76460462-76505906	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76483600-76493400	Enhancers	Stomach Mucosa	stomach
2	chr15:76483800-76491800	Weak transcription	Liver	Liver
3	chr15:76484000-76498600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr15:76484000-76500800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr15:76484200-76498200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr15:76485400-76498400	Weak transcription	Fetal Brain Female	brain
7	chr15:76486000-76492000	Enhancers	Esophagus	oesophagus
8	chr15:76486800-76491800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr15:76486800-76503000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr15:76486800-76516600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr15:76487000-76492200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr15:76487000-76498200	Weak transcription	Primary T cells from cord blood	blood
13	chr15:76487400-76492400	Enhancers	Psoas Muscle	Psoas
14	chr15:76487600-76492000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr15:76487800-76492000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr15:76488200-76492000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr15:76488200-76492200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr15:76488200-76492200	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr15:76488200-76492600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr15:76488400-76490800	Enhancers	Fetal Thymus	thymus
21	chr15:76488400-76490800	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr15:76488400-76490800	Flanking Active TSS	Hela-S3	cervix
23	chr15:76488400-76491200	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr15:76488400-76491200	Enhancers	HSMMtube	muscle
25	chr15:76488400-76491400	Enhancers	Colonic Mucosa	Colon
26	chr15:76488400-76491800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr15:76488400-76492000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr15:76488400-76492000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr15:76488400-76492200	Enhancers	Right Ventricle	heart
30	chr15:76488400-76492400	Enhancers	Left Ventricle	heart
31	chr15:76488400-76492400	Enhancers	NHLF	lung
32	chr15:76488400-76492600	Enhancers	HSMM	muscle
33	chr15:76488400-76492600	Enhancers	NH-A	brain
34	chr15:76488400-76492800	Enhancers	Brain Angular Gyrus	brain
35	chr15:76488600-76491200	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr15:76488600-76492000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr15:76488600-76492400	Enhancers	Osteobl	bone
38	chr15:76488800-76492000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr15:76488800-76492200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr15:76488800-76496200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr15:76489000-76491200	Enhancers	Muscle Satellite Cultured Cells	--
42	chr15:76489000-76498200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr15:76489200-76491000	Enhancers	Brain Cingulate Gyrus	brain
44	chr15:76489200-76491600	Weak transcription	Aorta	Aorta
45	chr15:76489200-76491800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr15:76489200-76492200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr15:76489200-76492400	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr15:76489400-76491400	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr15:76489400-76492200	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr15:76489400-76492200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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