Variant report

Variant	rs4756043
Chromosome Location	chr11:45959062-45959063
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:45957196..45959472-chr11:45964633..45967453,2	MCF-7	breast:
2	chr11:45948094..45950923-chr11:45957515..45959352,2	K562	blood:
3	chr11:45958098..45962653-chr11:45965847..45968250,4	K562	blood:

Variant related genes	Relation type
ENSG00000135365	Chromatin interaction
ENSG00000165905	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10742773	1.00[EUR][1000 genomes]
rs10769177	0.86[AFR][1000 genomes]
rs10838537	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs11820877	0.90[EUR][1000 genomes]
rs11827687	0.90[EUR][1000 genomes]
rs11828167	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1401420	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1401421	0.87[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs16938429	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs16938437	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs1973721	0.82[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs2860376	0.96[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2860433	0.89[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs2863714	0.98[EUR][1000 genomes]
rs2945996	0.89[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs2945998	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2946000	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2946002	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2946005	0.89[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs2946008	0.92[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs2946009	0.94[EUR][1000 genomes]
rs2959088	0.86[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs2959089	0.88[EUR][1000 genomes]
rs2959095	0.89[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs2959096	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2959097	0.94[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs2959103	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3107239	0.82[AFR][1000 genomes]
rs4756042	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4756048	0.81[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs55945697	0.87[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs61652532	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs61882508	0.92[EUR][1000 genomes]
rs61882509	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs61882510	0.94[EUR][1000 genomes]
rs61882511	0.90[EUR][1000 genomes]
rs61882513	0.90[EUR][1000 genomes]
rs61882514	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs61882534	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs61882535	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs61882536	0.90[EUR][1000 genomes]
rs61882538	0.90[EUR][1000 genomes]
rs61882539	0.90[EUR][1000 genomes]
rs61882540	0.90[EUR][1000 genomes]
rs61882541	0.82[EUR][1000 genomes]
rs61882542	0.82[EUR][1000 genomes]
rs7130282	0.90[EUR][1000 genomes]
rs73452216	0.90[EUR][1000 genomes]
rs7932895	0.87[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs7934572	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7934681	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs939106	0.96[AFR][1000 genomes];1.00[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:125 , 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	chr11:45950200-45960000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr11:45951600-45959600	Strong transcription	H1 Cell Line	embryonic stem cell
4	chr11:45951800-45960000	Strong transcription	Aorta	Aorta
5	chr11:45951800-45960200	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr11:45952000-45967000	Weak transcription	Fetal Kidney	kidney
7	chr11:45952400-45959800	Strong transcription	Fetal Intestine Small	intestine
8	chr11:45952400-45960200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:45952400-45960200	Strong transcription	Fetal Muscle Leg	muscle
10	chr11:45952400-45996200	Weak transcription	Stomach Mucosa	stomach
11	chr11:45952800-45959800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr11:45952800-45960200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:45952800-45960200	Strong transcription	Duodenum Mucosa	Duodenum
14	chr11:45952800-45961200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:45953000-45960000	Strong transcription	Brain Anterior Caudate	brain
16	chr11:45953000-45960200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:45953000-45960200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr11:45953000-45988600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:45953200-45959800	Strong transcription	Brain Inferior Temporal Lobe	brain
20	chr11:45953200-45960000	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr11:45953200-45960000	Strong transcription	Left Ventricle	heart
22	chr11:45953200-45960200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:45953200-45972600	Strong transcription	Fetal Intestine Large	intestine
24	chr11:45953200-45975400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:45953400-45960000	Strong transcription	Dnd41	blood
26	chr11:45953400-45960200	Strong transcription	Primary T cells from cord blood	blood
27	chr11:45953400-45960200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr11:45953400-45960200	Strong transcription	Adipose Nuclei	Adipose
29	chr11:45953600-45959800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:45953600-45959800	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr11:45953600-45959800	Strong transcription	Thymus	Thymus
32	chr11:45953600-45960000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:45953600-45961200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr11:45953800-45960000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:45953800-45960000	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr11:45953800-45960000	Strong transcription	Fetal Muscle Trunk	muscle
37	chr11:45953800-45960200	Strong transcription	Osteobl	bone
38	chr11:45954000-45959800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:45954000-45960200	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr11:45954000-45960200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr11:45954000-45978800	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr11:45954200-45969800	Weak transcription	HUVEC	blood vessel
43	chr11:45954600-45960000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr11:45954800-45959600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:45954800-45960000	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr11:45955000-45960000	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr11:45955200-45960000	Strong transcription	Ovary	ovary
48	chr11:45955200-45960200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:45955600-45960000	Strong transcription	Fetal Stomach	stomach
50	chr11:45955800-45960000	Strong transcription	A549	lung

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