Variant report

Variant	rs11237230
Chromosome Location	chr11:77299627-77299628
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GTF3C2	chr11:77299530-77299873	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:77299548-77299752	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:77299407..77303220-chr11:77304055..77306866,3	MCF-7	breast:
2	chr11:77276333..77280198-chr11:77299604..77302208,3	MCF-7	breast:
3	chr11:77299067..77304108-chr11:77304115..77308042,7	K562	blood:
4	chr11:77292199..77294445-chr11:77297490..77299940,2	K562	blood:

Variant related genes	Relation type
AQP11	TF binding region
ENSG00000271767	Chromatin interaction
ENSG00000238880	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10899390	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10899392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11237226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11237240	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11533286	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12221551	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12225695	1.00[AFR][1000 genomes]
rs12576652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	esv2752651	chr11:77211136-77318279	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1038974	chr11:77284036-77431228	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv1041384	chr11:77284558-77419809	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1048892	chr11:77290458-77431228	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv1053074	chr11:77290458-77435831	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77293000-77299800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:77294800-77300000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:77296000-77299800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:77299400-77299800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr11:77299400-77299800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr11:77299400-77299800	Weak transcription	Dnd41	blood
7	chr11:77299400-77299800	Enhancers	Osteobl	bone
8	chr11:77299400-77300000	Active TSS	Hela-S3	cervix
9	chr11:77299400-77300200	Flanking Active TSS	Placenta	Placenta
10	chr11:77299600-77299800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:77299600-77299800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr11:77299600-77299800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr11:77299600-77299800	Enhancers	Primary T cells from cord blood	blood
14	chr11:77299600-77299800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr11:77299600-77299800	Enhancers	Primary hematopoietic stem cells	blood
16	chr11:77299600-77299800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr11:77299600-77299800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr11:77299600-77299800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:77299600-77299800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:77299600-77299800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:77299600-77299800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:77299600-77299800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:77299600-77299800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:77299600-77299800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:77299600-77299800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:77299600-77299800	Active TSS	Adipose Nuclei	Adipose
27	chr11:77299600-77299800	Enhancers	Liver	Liver
28	chr11:77299600-77299800	Active TSS	Brain Angular Gyrus	brain
29	chr11:77299600-77299800	Enhancers	Brain Cingulate Gyrus	brain
30	chr11:77299600-77299800	Enhancers	Brain Hippocampus Middle	brain
31	chr11:77299600-77299800	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr11:77299600-77299800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr11:77299600-77299800	Enhancers	Colon Smooth Muscle	Colon
34	chr11:77299600-77299800	Enhancers	Duodenum Mucosa	Duodenum
35	chr11:77299600-77299800	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr11:77299600-77299800	Enhancers	Fetal Intestine Large	intestine
37	chr11:77299600-77299800	Enhancers	Fetal Intestine Small	intestine
38	chr11:77299600-77299800	Enhancers	Fetal Lung	lung
39	chr11:77299600-77299800	Enhancers	Fetal Muscle Trunk	muscle
40	chr11:77299600-77299800	Enhancers	Fetal Muscle Leg	muscle
41	chr11:77299600-77299800	Enhancers	Fetal Stomach	stomach
42	chr11:77299600-77299800	Active TSS	Ovary	ovary
43	chr11:77299600-77299800	Enhancers	Rectal Smooth Muscle	rectum
44	chr11:77299600-77299800	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr11:77299600-77299800	Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr11:77299600-77299800	Enhancers	Stomach Smooth Muscle	stomach
47	chr11:77299600-77299800	Enhancers	HepG2	liver
48	chr11:77299600-77299800	Enhancers	HMEC	breast
49	chr11:77299600-77299800	Enhancers	HUVEC	blood vessel
50	chr11:77299600-77300000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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