Variant report

Variant	rs72910053
Chromosome Location	chr11:46324233-46324234
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46313676..46318660-chr11:46323912..46327593,6	K562	blood:
2	chr11:46255391..46271183-chr11:46315085..46324739,29	K562	blood:
3	chr11:46299997..46302938-chr11:46322600..46325480,2	K562	blood:
4	chr11:46263663..46266589-chr11:46322297..46324739,2	K562	blood:

Variant related genes	Relation type
ENSG00000254639	Chromatin interaction
ENSG00000157613	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12273276	0.90[ASN][1000 genomes]
rs12286778	0.90[ASN][1000 genomes]
rs72910039	0.82[EUR][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	nsv554201	chr11:46281835-46422686	Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv825867	chr11:46303184-46425613	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1797501	chr11:46315437-46402521	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv1811345	chr11:46317062-46438072	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46318200-46330200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:46319000-46326800	Weak transcription	Esophagus	oesophagus
3	chr11:46319000-46329200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:46319200-46326000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:46319200-46326600	Weak transcription	Placenta	Placenta
6	chr11:46319200-46328200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr11:46319200-46329200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:46319200-46330000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:46319200-46330000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:46319200-46330400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr11:46319200-46337600	Weak transcription	Right Ventricle	heart
12	chr11:46319200-46342000	Weak transcription	Ovary	ovary
13	chr11:46319400-46330200	Weak transcription	Colonic Mucosa	Colon
14	chr11:46319400-46346000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:46319600-46328200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr11:46319600-46328800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr11:46320400-46329200	Strong transcription	Fetal Stomach	stomach
18	chr11:46320800-46324800	Strong transcription	Fetal Intestine Large	intestine
19	chr11:46321000-46324800	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr11:46321000-46325000	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr11:46321000-46325600	Strong transcription	Fetal Muscle Leg	muscle
22	chr11:46321000-46328000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:46321200-46324800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:46321200-46326600	Strong transcription	Fetal Intestine Small	intestine
25	chr11:46321400-46330200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr11:46321400-46331400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:46321400-46340200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr11:46321600-46330000	Weak transcription	Lung	lung
29	chr11:46321600-46330400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:46321800-46326600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:46321800-46329400	Weak transcription	Spleen	Spleen
32	chr11:46321800-46330000	Weak transcription	NH-A	brain
33	chr11:46322000-46325400	Weak transcription	K562	blood
34	chr11:46322000-46326400	Weak transcription	Gastric	stomach
35	chr11:46322000-46326600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:46322000-46327200	Strong transcription	Osteobl	bone
37	chr11:46322000-46328000	Weak transcription	A549	lung
38	chr11:46322000-46328000	Weak transcription	HSMM	muscle
39	chr11:46322000-46328800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr11:46322000-46329400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr11:46322000-46345000	Weak transcription	Small Intestine	intestine
42	chr11:46322200-46325000	Strong transcription	NHLF	lung
43	chr11:46322200-46326600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:46322200-46328600	Weak transcription	Pancreas	Pancrea
45	chr11:46322200-46330600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:46322400-46324400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr11:46322400-46324800	Strong transcription	NHDF-Ad	bronchial
48	chr11:46322400-46325600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:46322400-46326600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr11:46323000-46325000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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