Variant report

Variant	rs11023993
Chromosome Location	chr11:16626629-16626630
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:16490554..16493241-chr11:16624494..16627232,2	K562	blood:
2	chr11:16402440..16404530-chr11:16626484..16629109,2	K562	blood:
3	chr11:16398988..16400507-chr11:16625140..16626803,2	K562	blood:
4	chr11:16445154..16447273-chr11:16624940..16627233,2	K562	blood:
5	chr11:16396650..16399546-chr11:16625547..16627427,2	K562	blood:
6	chr11:16624162..16627157-chr11:16627962..16631164,4	MCF-7	breast:
7	chr11:16402440..16405189-chr11:16626177..16627984,2	K562	blood:
8	chr11:16316414..16318651-chr11:16625484..16627197,2	K562	blood:
9	chr11:16304365..16307291-chr11:16625396..16627357,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000110693	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10741702	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10832649	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10832655	0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs10832657	0.84[ASN][1000 genomes]
rs11023979	0.83[EUR][1000 genomes]
rs11023982	0.82[EUR][1000 genomes]
rs11023992	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11024001	0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs11489839	0.82[EUR][1000 genomes]
rs12364964	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12365482	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3809095	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4325274	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4593976	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55941903	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs56074687	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56222320	0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs72859415	0.82[EUR][1000 genomes]
rs72859445	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72875213	0.82[EUR][1000 genomes]
rs72875217	0.82[EUR][1000 genomes]
rs73419031	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7481887	0.81[AFR][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	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
2	nsv897016	chr11:16455794-16691743	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr11:16624800-16627200	Bivalent Enhancer	Fetal Brain Male	brain
2	chr11:16624800-16629600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr11:16624800-16630200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr11:16625000-16629800	Active TSS	Psoas Muscle	Psoas
5	chr11:16625000-16630000	Active TSS	Right Ventricle	heart
6	chr11:16625200-16628000	Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr11:16625200-16629000	Active TSS	Esophagus	oesophagus
8	chr11:16625200-16630000	Active TSS	Left Ventricle	heart
9	chr11:16625200-16630000	Active TSS	Right Atrium	heart
10	chr11:16625400-16627000	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
11	chr11:16625400-16627400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
12	chr11:16625400-16627400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:16625400-16628000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr11:16625400-16629400	Active TSS	Fetal Lung	lung
15	chr11:16625400-16629600	Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr11:16625400-16629800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
17	chr11:16625400-16629800	Bivalent/Poised TSS	Brain Substantia Nigra	brain
18	chr11:16625600-16626800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
19	chr11:16625600-16627200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
20	chr11:16625600-16627600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:16625600-16627800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:16625600-16629600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr11:16625600-16629800	Active TSS	Aorta	Aorta
24	chr11:16625600-16629800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:16625600-16629800	Bivalent/Poised TSS	HSMM	muscle
26	chr11:16625600-16630000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:16625600-16630000	Active TSS	Fetal Heart	heart
28	chr11:16625800-16627000	Bivalent/Poised TSS	Fetal Thymus	thymus
29	chr11:16625800-16627000	Active TSS	Gastric	stomach
30	chr11:16625800-16627000	Bivalent/Poised TSS	Osteobl	bone
31	chr11:16625800-16627200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
32	chr11:16625800-16627200	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr11:16625800-16627600	Active TSS	Lung	lung
34	chr11:16625800-16627800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
35	chr11:16625800-16628000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
36	chr11:16625800-16628000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:16625800-16628000	Active TSS	K562	blood
38	chr11:16625800-16629200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr11:16625800-16629200	Active TSS	Pancreas	Pancrea
40	chr11:16625800-16629400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:16625800-16629600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:16625800-16629800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
43	chr11:16625800-16629800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr11:16625800-16630000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:16625800-16630000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
46	chr11:16625800-16630000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
47	chr11:16625800-16630200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:16625800-16630600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:16626000-16626800	Active TSS	NHDF-Ad	bronchial
50	chr11:16626000-16627000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood

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