Variant report

Variant	rs11234701
Chromosome Location	chr11:86293807-86293808
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:86285976..86287836-chr11:86291866..86294445,2	K562	blood:
2	chr11:86292598..86295203-chr11:86295582..86300821,4	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11234699	0.83[EUR][1000 genomes]
rs11234700	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234702	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1945137	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1945138	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1945139	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1945144	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1945145	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7117143	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7117702	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7938505	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs949351	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[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	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv898056	chr11:86156848-86304402	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv555665	chr11:86230898-86417553	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv1808984	chr11:86282680-86301717	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv555678	chr11:86285994-86305977	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86275400-86299400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr11:86276400-86299800	Weak transcription	Fetal Brain Male	brain
3	chr11:86286000-86299400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:86286400-86298200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr11:86289800-86303200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr11:86289800-86303400	Weak transcription	Stomach Mucosa	stomach
7	chr11:86290600-86298200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:86290600-86299400	Weak transcription	Psoas Muscle	Psoas
9	chr11:86290800-86298200	Weak transcription	HMEC	breast
10	chr11:86290800-86299200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:86291400-86298200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:86291800-86294800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr11:86292000-86294200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr11:86292000-86303800	Weak transcription	Ovary	ovary
15	chr11:86292200-86294400	Enhancers	A549	lung
16	chr11:86292200-86297200	Weak transcription	Fetal Intestine Small	intestine
17	chr11:86292200-86298200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr11:86292200-86303200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:86292400-86298600	Weak transcription	Adipose Nuclei	Adipose
20	chr11:86292800-86297400	Weak transcription	Right Atrium	heart
21	chr11:86292800-86298200	Weak transcription	Right Ventricle	heart
22	chr11:86292800-86303800	Weak transcription	Gastric	stomach
23	chr11:86293000-86294000	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr11:86293000-86294400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:86293200-86294200	Enhancers	Colon Smooth Muscle	Colon
26	chr11:86293200-86294400	Enhancers	Fetal Intestine Large	intestine
27	chr11:86293400-86294000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:86293400-86294000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr11:86293400-86294200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr11:86293400-86303800	Weak transcription	Aorta	Aorta
31	chr11:86293600-86294000	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr11:86293600-86294600	Enhancers	Rectal Smooth Muscle	rectum
33	chr11:86293600-86294800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:86293800-86294000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr11:86293800-86294200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:86293800-86294200	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr11:86293800-86294400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:86293800-86294400	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr11:86293800-86294400	Enhancers	Brain Cingulate Gyrus	brain
40	chr11:86293800-86294400	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr11:86293800-86299200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr11:86293800-86299400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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