Variant report

Variant	rs12224756
Chromosome Location	chr11:66832825-66832826
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66827940..66829622-chr11:66832632..66835357,2	K562	blood:
2	chr11:66822518..66826076-chr11:66828864..66833150,3	K562	blood:
3	chr11:66831912..66834853-chr11:67029417..67031416,2	MCF-7	breast:
4	chr11:66824078..66826633-chr11:66830273..66833345,3	K562	blood:
5	chr11:66832820..66834679-chr11:67006761..67008997,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173156	Chromatin interaction
ENSG00000173120	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11227671	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59589410	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60403769	0.80[AFR][1000 genomes]
rs61891305	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891307	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv555226	chr11:66579572-66845362	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
3	esv1817552	chr11:66751014-66839985	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
4	nsv532287	chr11:66784014-67023899	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66825200-66838800	Weak transcription	Spleen	Spleen
2	chr11:66825200-66841400	Weak transcription	Aorta	Aorta
3	chr11:66825200-66849200	Weak transcription	Colon Smooth Muscle	Colon
4	chr11:66825400-66833200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:66825400-66833800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr11:66825400-66838800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:66825400-66839000	Weak transcription	Lung	lung
8	chr11:66825400-66839000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr11:66825400-66839200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:66825400-66849400	Weak transcription	Ovary	ovary
11	chr11:66826600-66839000	Weak transcription	Fetal Intestine Large	intestine
12	chr11:66827600-66841800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:66828000-66834000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:66828000-66839000	Weak transcription	NH-A	brain
15	chr11:66828000-66845600	Weak transcription	Osteobl	bone
16	chr11:66828400-66839000	Weak transcription	Right Atrium	heart
17	chr11:66828800-66833200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr11:66830000-66833600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:66830200-66833200	Weak transcription	Liver	Liver
20	chr11:66830400-66833000	Weak transcription	Fetal Stomach	stomach
21	chr11:66830400-66833200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:66830400-66834200	Weak transcription	Gastric	stomach
23	chr11:66830400-66838800	Weak transcription	Pancreas	Pancrea
24	chr11:66830600-66833200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:66830600-66833200	Weak transcription	Esophagus	oesophagus
26	chr11:66830600-66838400	Weak transcription	A549	lung
27	chr11:66830800-66833200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:66830800-66833800	Weak transcription	Hela-S3	cervix
29	chr11:66830800-66834200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr11:66830800-66839000	Weak transcription	Stomach Mucosa	stomach
31	chr11:66831200-66833000	Weak transcription	HMEC	breast
32	chr11:66831400-66833200	Weak transcription	Placenta	Placenta
33	chr11:66831400-66844600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:66831800-66833200	Enhancers	Fetal Heart	heart
35	chr11:66832000-66833800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:66832000-66841000	Strong transcription	NHEK	skin
37	chr11:66832200-66833000	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr11:66832200-66834400	Enhancers	Right Ventricle	heart
39	chr11:66832400-66833000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr11:66832400-66833200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr11:66832400-66833400	Weak transcription	Left Ventricle	heart
42	chr11:66832400-66834600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:66832400-66835200	Strong transcription	Fetal Intestine Small	intestine
44	chr11:66832600-66836800	Weak transcription	Fetal Muscle Leg	muscle

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