Variant report

Variant	rs72871772
Chromosome Location	chr11:18547801-18547802
allele	A/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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:18546372..18549758-chr11:18653531..18658575,7	K562	blood:
2	chr11:18546581..18551368-chr11:18654825..18657467,6	K562	blood:
3	chr11:18342189..18343915-chr11:18546820..18548379,2	MCF-7	breast:
4	chr11:18341846..18344494-chr11:18547115..18549354,2	MCF-7	breast:
5	chr11:18547695..18548426-chr5:149379662..149380630,2	Hela-S3	cervix:
6	chr11:18432193..18433875-chr11:18547475..18550164,2	MCF-7	breast:
7	chr11:18547238..18549661-chr11:18600782..18603302,3	MCF-7	breast:
8	chr11:18414795..18417618-chr11:18546727..18549809,4	MCF-7	breast:
9	chr11:18546303..18549278-chr11:18609985..18612598,2	K562	blood:
10	chr11:18547695..18548456-chr22:46449860..46450463,2	Hela-S3	cervix:
11	chr11:18343253..18347316-chr11:18546908..18550670,5	K562	blood:
12	chr11:18533507..18535848-chr11:18546408..18548301,3	K562	blood:
13	chr1:1334202..1334912-chr11:18547765..18548751,2	Hela-S3	cervix:
14	chr11:18531181..18534158-chr11:18547173..18549352,2	MCF-7	breast:
15	chr11:18415765..18417941-chr11:18547561..18549649,2	K562	blood:
16	chr11:18546489..18551340-chr11:18552893..18563258,14	MCF-7	breast:
17	chr11:18415399..18418482-chr11:18547632..18550708,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000179119	Chromatin interaction
ENSG00000151116	Chromatin interaction
ENSG00000182257	Chromatin interaction
ENSG00000241990	Chromatin interaction
ENSG00000256361	Chromatin interaction
ENSG00000164296	Chromatin interaction
ENSG00000166796	Chromatin interaction
ENSG00000110768	Chromatin interaction
ENSG00000110756	Chromatin interaction
ENSG00000113716	Chromatin interaction
ENSG00000224870	Chromatin interaction
ENSG00000221978	Chromatin interaction
ENSG00000134333	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10219146	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12283473	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16935557	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17392588	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1857909	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1973412	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2271079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2643868	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2658547	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72871724	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72871727	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72876735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72876768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72876784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers 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	156 gene(s)	inside rSNPs	diseases
2	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv1038015	chr11:18435855-18558211	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1042155	chr11:18435855-18697576	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers 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 target site	72 gene(s)	inside rSNPs	diseases
5	nsv1046886	chr11:18547568-18781448	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
6	nsv540956	chr11:18547568-18781448	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 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	chr11:18547000-18548000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr11:18547000-18549000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr11:18547000-18549200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:18547000-18549600	Active TSS	GM12878-XiMat	blood
5	chr11:18547200-18548000	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr11:18547200-18548000	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr11:18547200-18548000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr11:18547200-18548000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr11:18547200-18548000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:18547200-18548000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr11:18547200-18548000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:18547200-18548000	Flanking Active TSS	Liver	Liver
13	chr11:18547200-18548600	Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr11:18547200-18548600	Active TSS	HMEC	breast
15	chr11:18547200-18549000	Active TSS	Muscle Satellite Cultured Cells	--
16	chr11:18547200-18549000	Active TSS	Brain Substantia Nigra	brain
17	chr11:18547200-18549000	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr11:18547200-18549000	Active TSS	Fetal Stomach	stomach
19	chr11:18547200-18549200	Active TSS	Fetal Brain Female	brain
20	chr11:18547200-18549400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:18547200-18549600	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr11:18547200-18549600	Active TSS	H1 Cell Line	embryonic stem cell
23	chr11:18547200-18549600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:18547200-18549600	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr11:18547200-18549600	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr11:18547200-18549600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:18547200-18549600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:18547200-18549600	Active TSS	Fetal Intestine Large	intestine
29	chr11:18547200-18549600	Active TSS	K562	blood
30	chr11:18547200-18549800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:18547200-18549800	Active TSS	Psoas Muscle	Psoas
32	chr11:18547200-18549800	Active TSS	Stomach Smooth Muscle	stomach
33	chr11:18547400-18548000	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr11:18547400-18548000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:18547400-18548800	Active TSS	Hela-S3	cervix
36	chr11:18547400-18548800	Active TSS	HepG2	liver
37	chr11:18547400-18549000	Active TSS	Fetal Muscle Leg	muscle
38	chr11:18547400-18549000	Active TSS	Fetal Thymus	thymus
39	chr11:18547400-18549200	Active TSS	Placenta	Placenta
40	chr11:18547400-18549400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr11:18547400-18549400	Active TSS	H9 Cell Line	embryonic stem cell
42	chr11:18547400-18549400	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr11:18547400-18549400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:18547400-18549400	Active TSS	Colonic Mucosa	Colon
45	chr11:18547400-18549400	Active TSS	Fetal Intestine Small	intestine
46	chr11:18547400-18549400	Active TSS	Fetal Muscle Trunk	muscle
47	chr11:18547400-18549400	Active TSS	Ovary	ovary
48	chr11:18547400-18549400	Active TSS	Right Atrium	heart
49	chr11:18547400-18549600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr11:18547400-18549600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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