Variant report

Variant	rs4756044
Chromosome Location	chr11:45961114-45961115
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:45959860..45962292-chr11:46259010..46261554,2	K562	blood:
2	chr11:45944787..45946706-chr11:45959461..45962306,2	K562	blood:
3	chr11:45960690..45965572-chr11:45966148..45971451,5	MCF-7	breast:
4	chr11:45958098..45962653-chr11:45965847..45968250,4	K562	blood:

Variant related genes	Relation type
ENSG00000254639	Chromatin interaction
ENSG00000165905	Chromatin interaction
ENSG00000135365	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10742774	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10769176	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10769179	0.82[AMR][1000 genomes]
rs10838535	0.81[JPT][hapmap]
rs10838541	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11038716	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs11038720	0.82[CEU][hapmap];0.87[JPT][hapmap]
rs11038723	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11038739	0.90[CEU][hapmap]
rs11038742	0.95[CEU][hapmap]
rs11038743	0.90[CEU][hapmap]
rs1125290	0.88[JPT][hapmap]
rs1125291	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12277800	0.81[AMR][1000 genomes]
rs1996573	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2945999	0.81[JPT][hapmap]
rs2946003	0.88[JPT][hapmap]
rs2959087	0.82[CEU][hapmap];0.87[JPT][hapmap]
rs2959090	0.87[JPT][hapmap]
rs2959091	0.87[JPT][hapmap]
rs2959099	0.88[JPT][hapmap]
rs4144718	0.82[CEU][hapmap];0.87[JPT][hapmap]
rs4237659	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4237660	0.82[CEU][hapmap];0.87[JPT][hapmap]
rs4756045	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6485654	0.90[CEU][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7108028	0.80[ASN][1000 genomes]
rs7108186	0.82[CEU][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs7128184	1.00[CEU][hapmap];0.87[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7926314	1.00[CEU][hapmap];0.87[JPT][hapmap];0.81[EUR][1000 genomes]
rs7948502	1.00[CEU][hapmap];0.87[JPT][hapmap];0.82[AMR][1000 genomes]
rs7950336	0.82[CEU][hapmap];0.87[JPT][hapmap]
rs7950391	0.95[CEU][hapmap];0.87[JPT][hapmap];0.82[AMR][1000 genomes]
rs939107	1.00[CEU][hapmap];0.87[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	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	chr11:45952800-45961200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr11:45953000-45988600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:45953200-45972600	Strong transcription	Fetal Intestine Large	intestine
7	chr11:45953200-45975400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:45953600-45961200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr11:45954000-45978800	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr11:45954200-45969800	Weak transcription	HUVEC	blood vessel
11	chr11:45957000-45965600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr11:45957000-45966800	Weak transcription	NHLF	lung
13	chr11:45957200-45963600	Weak transcription	Fetal Thymus	thymus
14	chr11:45957200-45965400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr11:45957200-45966600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr11:45957200-45967000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:45957200-45969400	Weak transcription	Colonic Mucosa	Colon
18	chr11:45957200-46004400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:45957200-46004400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:45957400-45963400	Weak transcription	Colon Smooth Muscle	Colon
21	chr11:45957600-45966600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:45957600-45966600	Weak transcription	K562	blood
23	chr11:45957600-45970600	Weak transcription	Small Intestine	intestine
24	chr11:45957600-45986400	Weak transcription	HMEC	breast
25	chr11:45957800-45969000	Weak transcription	Pancreas	Pancrea
26	chr11:45957800-45986400	Weak transcription	NHEK	skin
27	chr11:45958000-45967200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:45958200-45966000	Weak transcription	Brain Angular Gyrus	brain
29	chr11:45958200-45966800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr11:45958200-45967000	Weak transcription	HSMM	muscle
31	chr11:45958200-45967200	Weak transcription	NH-A	brain
32	chr11:45958400-45964800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:45958400-45966000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr11:45958600-45963200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr11:45958600-45965400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:45958600-45966400	Weak transcription	Fetal Brain Male	brain
37	chr11:45958600-45967000	Weak transcription	HepG2	liver
38	chr11:45958600-45967200	Weak transcription	Psoas Muscle	Psoas
39	chr11:45958600-45979000	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr11:45958800-45963200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr11:45958800-45964600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr11:45958800-45965200	Weak transcription	Fetal Heart	heart
43	chr11:45958800-45966600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr11:45958800-45966800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr11:45958800-45967000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr11:45958800-45967000	Weak transcription	Hela-S3	cervix
47	chr11:45958800-45979000	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr11:45959000-45966400	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr11:45959600-45961200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:45959600-45967000	Weak transcription	H1 Cell Line	embryonic stem cell

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