Variant report

Variant	rs57739486
Chromosome Location	chr11:46723516-46723517
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46637616..46640198-chr11:46720757..46723705,2	MCF-7	breast:
2	chr11:46721125..46723767-chr11:46740816..46743369,3	K562	blood:
3	chr11:46637848..46640498-chr11:46721898..46723804,3	K562	blood:
4	chr11:46639444..46641700-chr11:46721393..46724232,2	K562	blood:
5	chr11:46722213..46727380-chr11:46743173..46747634,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180423	Chromatin interaction
ENSG00000175224	Chromatin interaction
ENSG00000180210	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10838613	0.84[EUR][1000 genomes]
rs11038974	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12292425	0.81[EUR][1000 genomes]
rs12295266	0.80[EUR][1000 genomes]
rs12574259	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12574918	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28372918	0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs3136435	0.96[ASN][1000 genomes]
rs3136456	0.96[ASN][1000 genomes]
rs3136474	0.94[ASN][1000 genomes]
rs3136490	0.93[ASN][1000 genomes]
rs35623865	0.80[EUR][1000 genomes]
rs4307676	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4319473	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4423142	0.92[EUR][1000 genomes]
rs55657382	0.82[EUR][1000 genomes]
rs55661562	0.82[EUR][1000 genomes]
rs55896955	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56349329	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57744667	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60722866	0.81[EUR][1000 genomes]
rs60932698	0.84[EUR][1000 genomes]
rs61882757	0.80[EUR][1000 genomes]
rs61882758	0.80[EUR][1000 genomes]
rs61884264	0.80[EUR][1000 genomes]
rs61884271	0.84[EUR][1000 genomes]
rs61884273	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs61884274	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs61884292	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61884295	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61884301	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61884324	0.89[ASN][1000 genomes]
rs61884327	0.89[ASN][1000 genomes]
rs6485685	0.82[EUR][1000 genomes]
rs7108770	0.82[EUR][1000 genomes]
rs7109698	0.92[EUR][1000 genomes]
rs7122039	0.81[EUR][1000 genomes]
rs7125907	0.81[EUR][1000 genomes]
rs7126316	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7126343	0.85[EUR][1000 genomes]
rs7128092	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs73449983	0.80[EUR][1000 genomes]
rs7484002	0.82[EUR][1000 genomes]
rs7924401	0.81[EUR][1000 genomes]
rs7926389	0.98[EUR][1000 genomes];0.89[ASN][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	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 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	chr11:46720800-46723600	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr11:46721000-46723600	Active TSS	HSMM	muscle
3	chr11:46721000-46723800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:46721200-46723600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr11:46721200-46723600	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr11:46721200-46723600	Active TSS	Left Ventricle	heart
7	chr11:46721200-46723600	Active TSS	Ovary	ovary
8	chr11:46721200-46723600	Active TSS	K562	blood
9	chr11:46721200-46724000	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr11:46721400-46723600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr11:46721400-46723600	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr11:46721400-46723600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:46721800-46723600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
14	chr11:46722400-46723800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:46722600-46723600	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr11:46722600-46723600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr11:46722600-46723600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
18	chr11:46722800-46723600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
19	chr11:46722800-46723600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:46722800-46723600	Flanking Active TSS	Fetal Thymus	thymus
21	chr11:46722800-46723600	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr11:46722800-46723600	Transcr. at gene 5' and 3'	Dnd41	blood
23	chr11:46722800-46723600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr11:46723000-46723600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr11:46723000-46723600	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr11:46723000-46723600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr11:46723000-46723600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr11:46723000-46723600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr11:46723000-46723600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:46723000-46723600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr11:46723000-46723600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr11:46723000-46723600	Flanking Active TSS	Liver	Liver
33	chr11:46723000-46723600	Flanking Active TSS	Brain Angular Gyrus	brain
34	chr11:46723000-46723600	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr11:46723000-46723600	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr11:46723000-46723600	Flanking Active TSS	Brain Substantia Nigra	brain
37	chr11:46723000-46723600	Transcr. at gene 5' and 3'	Colonic Mucosa	Colon
38	chr11:46723000-46723600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr11:46723000-46723600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
40	chr11:46723000-46723600	Flanking Active TSS	Thymus	Thymus
41	chr11:46723000-46723600	Flanking Active TSS	HUVEC	blood vessel
42	chr11:46723000-46723800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr11:46723000-46723800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr11:46723200-46723600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:46723200-46723600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr11:46723200-46723600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:46723200-46723600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:46723200-46723600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:46723200-46723600	Flanking Active TSS	Brain Anterior Caudate	brain
50	chr11:46723200-46723600	Flanking Active TSS	Brain Cingulate Gyrus	brain

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