Variant report

Variant	rs12276536
Chromosome Location	chr11:73246077-73246078
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73086620..73089521-chr11:73245714..73248279,2	K562	blood:

Variant related genes	Relation type
ENSG00000054967	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10047442	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10793060	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10898920	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10898925	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235743	0.83[EUR][1000 genomes]
rs11235746	0.82[EUR][1000 genomes]
rs11820786	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11823979	0.89[EUR][1000 genomes]
rs12295744	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12421053	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1939382	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2366780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3741148	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4944845	0.90[ASN][1000 genomes]
rs55751428	0.93[ASN][1000 genomes]
rs6592523	0.81[EUR][1000 genomes]
rs7119167	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127171	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73542998	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7925573	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7935204	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7937066	0.82[EUR][1000 genomes]
rs7944346	0.86[AFR][1000 genomes]
rs7945596	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7948630	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7950002	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7952686	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv1048171	chr11:73210060-73271831	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73232600-73249400	Weak transcription	Brain Germinal Matrix	brain
2	chr11:73240200-73249600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr11:73240200-73252600	Weak transcription	Placenta	Placenta
4	chr11:73240400-73247800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr11:73240400-73248600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:73240400-73248600	Weak transcription	Dnd41	blood
7	chr11:73240400-73249200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:73240400-73249400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr11:73240400-73249400	Weak transcription	HMEC	breast
10	chr11:73240400-73249600	Weak transcription	Adipose Nuclei	Adipose
11	chr11:73240400-73251600	Weak transcription	Fetal Intestine Large	intestine
12	chr11:73240400-73253800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:73240400-73254400	Weak transcription	Stomach Mucosa	stomach
14	chr11:73240600-73249400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr11:73240600-73255400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr11:73241400-73251400	Weak transcription	Colon Smooth Muscle	Colon
17	chr11:73241600-73247400	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr11:73241600-73248800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr11:73241600-73249400	Weak transcription	Thymus	Thymus
20	chr11:73241600-73250600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr11:73242000-73248000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr11:73242200-73250600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr11:73242600-73249400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr11:73242800-73247800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr11:73242800-73247800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:73242800-73248600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr11:73242800-73248600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr11:73242800-73248800	Weak transcription	GM12878-XiMat	blood
29	chr11:73242800-73249200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:73242800-73249400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:73243000-73249400	Weak transcription	Brain Anterior Caudate	brain
32	chr11:73243200-73249400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr11:73243200-73249400	Weak transcription	Right Atrium	heart
34	chr11:73243400-73249400	Weak transcription	Primary T cells from cord blood	blood
35	chr11:73243400-73279600	Weak transcription	Fetal Stomach	stomach
36	chr11:73243800-73249200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr11:73243800-73263000	Weak transcription	Fetal Intestine Small	intestine
38	chr11:73244000-73248400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr11:73244000-73248600	Weak transcription	Brain Angular Gyrus	brain
40	chr11:73244000-73248600	Weak transcription	Brain Hippocampus Middle	brain
41	chr11:73244000-73249000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:73244000-73249400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr11:73244000-73249600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:73244000-73253000	Weak transcription	Psoas Muscle	Psoas
45	chr11:73244200-73247000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:73244200-73248200	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr11:73244200-73248600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr11:73244200-73248800	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr11:73244200-73248800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr11:73244200-73249200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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