Variant report

Variant	rs57199754
Chromosome Location	chr11:45965405-45965406
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:45963701..45965937-chr11:46018859..46021293,2	K562	blood:
2	chr11:45957196..45959472-chr11:45964633..45967453,2	MCF-7	breast:
3	chr11:45960690..45965572-chr11:45966148..45971451,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135365	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16938423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16938426	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16938430	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16938431	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16938450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17789551	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17847257	1.00[EUR][1000 genomes]
rs2271846	1.00[EUR][1000 genomes]
rs2271850	1.00[EUR][1000 genomes]
rs2280328	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2280330	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60623533	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6485647	1.00[EUR][1000 genomes]
rs73455987	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516442	chr11:45899962-45983385	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45945200-45969400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:45952000-45967000	Weak transcription	Fetal Kidney	kidney
3	chr11:45952400-45996200	Weak transcription	Stomach Mucosa	stomach
4	chr11:45953000-45988600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:45953200-45972600	Strong transcription	Fetal Intestine Large	intestine
6	chr11:45953200-45975400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:45954000-45978800	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr11:45954200-45969800	Weak transcription	HUVEC	blood vessel
9	chr11:45957000-45965600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr11:45957000-45966800	Weak transcription	NHLF	lung
11	chr11:45957200-45966600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr11:45957200-45967000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:45957200-45969400	Weak transcription	Colonic Mucosa	Colon
14	chr11:45957200-46004400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:45957200-46004400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:45957600-45966600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:45957600-45966600	Weak transcription	K562	blood
18	chr11:45957600-45970600	Weak transcription	Small Intestine	intestine
19	chr11:45957600-45986400	Weak transcription	HMEC	breast
20	chr11:45957800-45969000	Weak transcription	Pancreas	Pancrea
21	chr11:45957800-45986400	Weak transcription	NHEK	skin
22	chr11:45958000-45967200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:45958200-45966000	Weak transcription	Brain Angular Gyrus	brain
24	chr11:45958200-45966800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr11:45958200-45967000	Weak transcription	HSMM	muscle
26	chr11:45958200-45967200	Weak transcription	NH-A	brain
27	chr11:45958400-45966000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr11:45958600-45966400	Weak transcription	Fetal Brain Male	brain
29	chr11:45958600-45967000	Weak transcription	HepG2	liver
30	chr11:45958600-45967200	Weak transcription	Psoas Muscle	Psoas
31	chr11:45958600-45979000	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr11:45958800-45966600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr11:45958800-45966800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr11:45958800-45967000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr11:45958800-45967000	Weak transcription	Hela-S3	cervix
36	chr11:45958800-45979000	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr11:45959000-45966400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr11:45959600-45967000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr11:45959800-45966000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:45959800-45966000	Weak transcription	Fetal Intestine Small	intestine
41	chr11:45959800-45966000	Weak transcription	Thymus	Thymus
42	chr11:45959800-45966600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr11:45959800-45966800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr11:45959800-45969000	Weak transcription	Gastric	stomach
45	chr11:45960000-45965600	Weak transcription	Fetal Brain Female	brain
46	chr11:45960000-45965800	Weak transcription	Brain Substantia Nigra	brain
47	chr11:45960000-45966000	Weak transcription	Fetal Stomach	stomach
48	chr11:45960000-45966000	Weak transcription	Lung	lung
49	chr11:45960000-45966000	Weak transcription	Ovary	ovary
50	chr11:45960000-45966800	Weak transcription	Dnd41	blood

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