Variant report

Variant	rs57618952
Chromosome Location	chr15:44861113-44861114
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:44860885-44861365	K562	blood:	n/a	n/a
2	POLR2A	chr15:44860618-44861809	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr15:44851890-44863702	K562	blood:	n/a	n/a
4	POLR2A	chr15:44860421-44861212	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr15:44860639-44861158	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr15:44860526-44861168	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr15:44860418-44863788	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr15:44860576-44861168	K562	blood:	n/a	n/a
9	POLR2A	chr15:44860643-44861207	MCF-7	breast:	n/a	n/a
10	POLR2A	chr15:44860546-44861114	GM12891	blood:	n/a	n/a
11	POLR2A	chr15:44860926-44861131	HL-60	blood:	n/a	n/a
12	POLR2A	chr15:44860464-44863707	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr15:44860758-44862143	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:44854365..44856027-chr15:44860182..44862727,2	K562	blood:
2	chr15:44846922..44848532-chr15:44859953..44861559,2	K562	blood:
3	chr15:44858431..44861385-chr15:44865998..44869003,3	K562	blood:
4	chr15:44860362..44863170-chr15:44863297..44865597,2	K562	blood:
5	chr15:44848527..44850440-chr15:44860576..44862801,2	MCF-7	breast:

No data

Variant related genes	Relation type
SPG11	TF binding region
ENSG00000259659	Chromatin interaction
ENSG00000104133	Chromatin interaction
ENSG00000104131	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16964045	1.00[EUR][1000 genomes]
rs2288340	1.00[EUR][1000 genomes]
rs2303576	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2412884	1.00[EUR][1000 genomes]
rs2412908	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2556561	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3752690	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3752691	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3784566	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4283209	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57400480	0.81[ASN][1000 genomes]
rs57451506	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7163287	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
2	esv3386433	chr15:44654644-45037538	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	135 gene(s)	inside rSNPs	diseases
3	nsv827313	chr15:44857356-44863482	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	5 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	chr15:44842000-44951600	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr15:44843200-44867800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr15:44843200-44868000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr15:44843600-44866000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr15:44843800-44867600	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr15:44844000-44866400	Strong transcription	Placenta	Placenta
7	chr15:44844000-44867600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr15:44844000-44867600	Strong transcription	Fetal Muscle Trunk	muscle
9	chr15:44844000-44868200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr15:44844000-44870400	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr15:44844200-44861800	Strong transcription	Muscle Satellite Cultured Cells	--
12	chr15:44844600-44867400	Strong transcription	Stomach Smooth Muscle	stomach
13	chr15:44844600-44867600	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr15:44845600-44865800	Strong transcription	Osteobl	bone
15	chr15:44848400-44868200	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr15:44850600-44863800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr15:44850600-44863800	Strong transcription	NHEK	skin
18	chr15:44852000-44863400	Strong transcription	Rectal Smooth Muscle	rectum
19	chr15:44853200-44861200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr15:44853200-44867400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr15:44853400-44863200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr15:44853600-44867400	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr15:44854400-44863200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
24	chr15:44855000-44867000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr15:44855000-44867600	Strong transcription	Primary T cells from cord blood	blood
26	chr15:44855200-44862200	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr15:44855200-44863000	Strong transcription	Brain Cingulate Gyrus	brain
28	chr15:44855200-44863400	Strong transcription	Left Ventricle	heart
29	chr15:44855200-44863800	Strong transcription	Gastric	stomach
30	chr15:44855600-44863600	Strong transcription	Spleen	Spleen
31	chr15:44856000-44863600	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr15:44857600-44867400	Strong transcription	Dnd41	blood
33	chr15:44857800-44862000	Strong transcription	Brain Substantia Nigra	brain
34	chr15:44857800-44866200	Strong transcription	Brain Angular Gyrus	brain
35	chr15:44857800-44867000	Weak transcription	Right Atrium	heart
36	chr15:44857800-44867600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr15:44857800-44867600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr15:44857800-44867800	Strong transcription	Fetal Intestine Large	intestine
39	chr15:44858000-44863200	Strong transcription	Brain Hippocampus Middle	brain
40	chr15:44858000-44863600	Strong transcription	Adipose Nuclei	Adipose
41	chr15:44858000-44864600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr15:44858000-44865600	Strong transcription	Fetal Muscle Leg	muscle
43	chr15:44858000-44867200	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr15:44858000-44867600	Strong transcription	Liver	Liver
45	chr15:44858000-44868200	Strong transcription	Duodenum Mucosa	Duodenum
46	chr15:44858000-44900200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr15:44858200-44862000	Strong transcription	Esophagus	oesophagus
48	chr15:44858200-44863600	Strong transcription	Aorta	Aorta
49	chr15:44858200-44863600	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr15:44858200-44865800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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