Variant report

Variant	rs57175055
Chromosome Location	chr12:48733695-48733696
allele	A/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:48733613..48735168-chr12:48738157..48739874,2	MCF-7	breast:
2	chr12:48591117..48593600-chr12:48733490..48736023,2	K562	blood:
3	chr12:48731724..48737573-chr12:48737990..48746470,14	K562	blood:
4	chr12:48729428..48731486-chr12:48731797..48736045,4	MCF-7	breast:
5	chr12:48723401..48726015-chr12:48731031..48733987,2	K562	blood:
6	chr12:48732421..48734160-chr12:48734497..48737400,2	MCF-7	breast:
7	chr12:48727537..48730148-chr12:48731988..48733815,2	MCF-7	breast:
8	chr12:48731903..48736039-chr12:48740955..48745883,6	MCF-7	breast:
9	chr12:48718327..48723671-chr12:48729178..48735713,9	MCF-7	breast:
10	chr12:48727374..48736715-chr12:48738720..48747602,13	K562	blood:

No data

Variant related genes	Relation type
ENSG00000187166	Chromatin interaction
ENSG00000269514	Chromatin interaction
ENSG00000258273	Chromatin interaction
ENSG00000167528	Chromatin interaction
ENSG00000257735	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs57670667	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73291318	1.00[AMR][1000 genomes]
rs73291321	1.00[AMR][1000 genomes]
rs73291351	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv8971	chr12:48536526-48758501	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv34439	chr12:48541757-48779562	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	esv2757502	chr12:48547128-48779562	Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv427911	chr12:48670336-48979396	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv832402	chr12:48686761-48851020	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv826362	chr12:48693048-48768853	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
9	nsv437752	chr12:48721832-48741219	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
10	nsv438208	chr12:48724778-48734609	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	n/a
11	nsv1044444	chr12:48725007-48737570	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	n/a
12	nsv1045159	chr12:48730024-48748940	Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48723800-48736600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:48724200-48734400	Weak transcription	Thymus	Thymus
3	chr12:48724400-48736000	Weak transcription	Fetal Stomach	stomach
4	chr12:48725200-48734600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr12:48725200-48735800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr12:48725200-48736800	Weak transcription	Hela-S3	cervix
7	chr12:48728000-48736000	Weak transcription	HSMMtube	muscle
8	chr12:48728600-48734000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr12:48728600-48734800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr12:48728800-48734000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr12:48728800-48736600	Weak transcription	Right Ventricle	heart
12	chr12:48728800-48737000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr12:48729000-48734400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:48729000-48735600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:48729000-48735800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr12:48729000-48736000	Weak transcription	Spleen	Spleen
17	chr12:48729000-48736400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr12:48729000-48739200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr12:48729200-48736600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:48729200-48736600	Weak transcription	Fetal Intestine Small	intestine
21	chr12:48729200-48736600	Weak transcription	Pancreas	Pancrea
22	chr12:48729200-48743400	Weak transcription	Stomach Mucosa	stomach
23	chr12:48729400-48736000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:48729600-48734200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr12:48730000-48736000	Weak transcription	Colon Smooth Muscle	Colon
26	chr12:48730200-48736000	Weak transcription	Placenta	Placenta
27	chr12:48730200-48736600	Weak transcription	Ovary	ovary
28	chr12:48730400-48736400	Weak transcription	Lung	lung
29	chr12:48730600-48734000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr12:48730600-48736800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr12:48730800-48736000	Weak transcription	Brain Angular Gyrus	brain
32	chr12:48731000-48734000	Weak transcription	Fetal Brain Female	brain
33	chr12:48731000-48736000	Weak transcription	Fetal Lung	lung
34	chr12:48731000-48736400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr12:48731200-48738200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr12:48731200-48743800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr12:48731400-48736200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr12:48731400-48736800	Weak transcription	Psoas Muscle	Psoas
39	chr12:48731600-48735400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:48731600-48735800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:48731600-48735800	Weak transcription	Fetal Muscle Trunk	muscle
42	chr12:48731800-48733800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:48731800-48734600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr12:48731800-48736200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr12:48732000-48736600	Weak transcription	Gastric	stomach
46	chr12:48732000-48736600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr12:48732200-48733800	Weak transcription	Liver	Liver
48	chr12:48732200-48735600	Weak transcription	Fetal Intestine Large	intestine
49	chr12:48732200-48736000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:48732400-48733800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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