Variant report

Variant	rs4757428
Chromosome Location	chr11:16762666-16762667
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr11:16762633-16762833	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:16761361..16764357-chr11:16767480..16769884,3	MCF-7	breast:
2	chr11:16760740..16762840-chr11:16767428..16769739,2	MCF-7	breast:
3	chr11:16759714..16762827-chr11:17097720..17101099,4	K562	blood:
4	chr11:16761666..16763335-chr11:16773162..16775562,2	K562	blood:

Variant related genes	Relation type
SOX6	TF binding region
C11orf58	TF binding region
ENSG00000110700	Chromatin interaction
ENSG00000110696	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10734249	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10741708	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12794768	0.81[EUR][1000 genomes]
rs12799800	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12799969	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12804277	0.81[EUR][1000 genomes]
rs1501451	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1846936	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1967192	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1995343	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34097789	0.81[EUR][1000 genomes]
rs34812104	0.81[EUR][1000 genomes]
rs3802963	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3921675	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4756862	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4757431	0.81[EUR][1000 genomes]
rs4757432	0.86[EUR][1000 genomes]
rs6486310	0.83[ASN][1000 genomes]
rs6486312	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7110136	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7117140	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7125008	0.85[EUR][1000 genomes]
rs7125262	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7128484	0.83[EUR][1000 genomes]
rs7939889	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7944906	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][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	nsv553566	chr11:16329009-16799044	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16759200-16762800	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr11:16759200-16763200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr11:16761200-16763000	Weak transcription	Esophagus	oesophagus
4	chr11:16761400-16763000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:16761400-16763000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr11:16761400-16763000	Weak transcription	Gastric	stomach
7	chr11:16761400-16763000	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr11:16761400-16764000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr11:16761400-16783000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:16761600-16763400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
11	chr11:16761600-16763400	Enhancers	Small Intestine	intestine
12	chr11:16761600-16763400	Enhancers	Stomach Mucosa	stomach
13	chr11:16761600-16764000	Enhancers	Liver	Liver
14	chr11:16761600-16765200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr11:16761600-16766800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr11:16761800-16762800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr11:16761800-16762800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:16761800-16762800	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr11:16761800-16763000	Enhancers	Primary T cells fromperipheralblood	blood
20	chr11:16761800-16763000	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr11:16761800-16763000	Weak transcription	Aorta	Aorta
22	chr11:16761800-16763000	Weak transcription	Brain Angular Gyrus	brain
23	chr11:16761800-16763000	Enhancers	Brain Hippocampus Middle	brain
24	chr11:16761800-16763400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:16761800-16763400	Genic enhancers	Fetal Muscle Leg	muscle
26	chr11:16761800-16763800	Enhancers	Brain Substantia Nigra	brain
27	chr11:16761800-16764000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr11:16761800-16764000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr11:16761800-16764000	Enhancers	Fetal Brain Male	brain
30	chr11:16761800-16764200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:16761800-16765600	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr11:16761800-16765600	Weak transcription	Fetal Stomach	stomach
33	chr11:16761800-16767400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr11:16762000-16762800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr11:16762000-16762800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr11:16762000-16762800	Weak transcription	A549	lung
37	chr11:16762000-16762800	Enhancers	HUVEC	blood vessel
38	chr11:16762000-16763000	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr11:16762000-16763000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:16762000-16763000	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr11:16762000-16763000	Enhancers	Adipose Nuclei	Adipose
42	chr11:16762000-16763000	Enhancers	Psoas Muscle	Psoas
43	chr11:16762000-16763000	Weak transcription	NH-A	brain
44	chr11:16762000-16763200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:16762000-16763200	Genic enhancers	Fetal Muscle Trunk	muscle
46	chr11:16762000-16763400	Strong transcription	Fetal Intestine Small	intestine
47	chr11:16762000-16763400	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr11:16762000-16763600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr11:16762000-16763600	Genic enhancers	Ovary	ovary
50	chr11:16762000-16763800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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