Variant report

Variant	rs12798081
Chromosome Location	chr11:75126350-75126351
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75123559..75127434-chr11:75138022..75142436,6	MCF-7	breast:
2	chr11:75122124..75127716-chr11:75129624..75133072,6	MCF-7	breast:
3	chr11:75125667..75127320-chr11:75132876..75135732,2	K562	blood:
4	chr11:75121805..75124460-chr11:75124847..75127735,2	K562	blood:
5	chr11:75121805..75124577-chr11:75124847..75127280,2	K562	blood:
6	chr11:75124911..75127716-chr11:75131306..75134376,3	K562	blood:
7	chr11:75124995..75127197-chr11:75130235..75131924,2	K562	blood:

Variant related genes	Relation type
ENSG00000149243	Chromatin interaction

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

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

rs_ID	r²[population]
rs11539810	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12272818	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12292210	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12795298	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3094303	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3094304	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3133186	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3133187	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34503349	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34593568	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35378921	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36098078	1.00[AFR][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	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
2	nsv897920	chr11:75087520-75181249	Genic enhancers Bivalent Enhancer Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	esv1799276	chr11:75104200-75135434	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
4	nsv897921	chr11:75115893-75147661	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv897922	chr11:75116733-75147661	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75115600-75132200	Weak transcription	Fetal Brain Male	brain
2	chr11:75117000-75135200	Weak transcription	Right Ventricle	heart
3	chr11:75117400-75139000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr11:75118200-75129800	Weak transcription	Hela-S3	cervix
5	chr11:75118200-75139000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr11:75118200-75139600	Weak transcription	Small Intestine	intestine
7	chr11:75119400-75129200	Weak transcription	Stomach Mucosa	stomach
8	chr11:75119400-75139800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr11:75119600-75131400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:75120400-75134200	Weak transcription	Right Atrium	heart
11	chr11:75121800-75127400	Strong transcription	Brain Germinal Matrix	brain
12	chr11:75122200-75126600	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr11:75122200-75126800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:75122200-75128400	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr11:75122200-75129800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr11:75122200-75130200	Strong transcription	Fetal Brain Female	brain
17	chr11:75122400-75127400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:75122400-75127400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:75122600-75126400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
20	chr11:75122600-75126800	Strong transcription	Lung	lung
21	chr11:75122600-75127400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:75122600-75127400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:75122600-75127400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr11:75122600-75128400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr11:75122600-75129000	Strong transcription	Fetal Thymus	thymus
26	chr11:75122600-75129400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
27	chr11:75122600-75129400	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr11:75122600-75130600	Strong transcription	Fetal Intestine Small	intestine
29	chr11:75122800-75126400	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr11:75122800-75126400	Strong transcription	H9 Cell Line	embryonic stem cell
31	chr11:75122800-75126400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:75122800-75126400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:75122800-75126400	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr11:75122800-75126400	Strong transcription	Primary B cells from peripheral blood	blood
35	chr11:75122800-75126400	Strong transcription	Liver	Liver
36	chr11:75122800-75126400	Strong transcription	Brain Anterior Caudate	brain
37	chr11:75122800-75126400	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr11:75122800-75126400	Strong transcription	Spleen	Spleen
39	chr11:75122800-75126400	Strong transcription	Dnd41	blood
40	chr11:75122800-75126400	Strong transcription	NHEK	skin
41	chr11:75122800-75126600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:75122800-75126600	Strong transcription	Left Ventricle	heart
43	chr11:75122800-75126600	Strong transcription	Stomach Smooth Muscle	stomach
44	chr11:75122800-75126800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:75122800-75126800	Strong transcription	Fetal Intestine Large	intestine
46	chr11:75122800-75127000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:75122800-75127200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:75122800-75127400	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr11:75122800-75127400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:75122800-75127400	Strong transcription	Duodenum Smooth Muscle	Duodenum

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