Variant report

Variant	rs11054926
Chromosome Location	chr12:12639649-12639650
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:12639514..12642208-chr12:12655232..12658211,2	MCF-7	breast:
2	chr12:12634486..12639853-chr12:12714024..12717789,5	K562	blood:

Variant related genes	Relation type
ENSG00000111266	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10845553	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10845554	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10845556	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10845557	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10845562	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10845565	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11054923	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11054925	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11054935	0.92[ASN][1000 genomes]
rs11609905	0.92[ASN][1000 genomes]
rs11612508	0.92[ASN][1000 genomes]
rs12369319	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12424448	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12819116	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17312926	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17379216	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2287206	0.82[EUR][1000 genomes]
rs2417191	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs736107	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs747726	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs888197	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758295	chr12:12620654-12783124	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv2759880	chr12:12620654-12783124	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12610800-12658000	Weak transcription	NHDF-Ad	bronchial
2	chr12:12618400-12642200	Weak transcription	Stomach Mucosa	stomach
3	chr12:12621400-12645400	Weak transcription	Small Intestine	intestine
4	chr12:12621600-12646000	Weak transcription	Psoas Muscle	Psoas
5	chr12:12621600-12646200	Weak transcription	Brain Germinal Matrix	brain
6	chr12:12622600-12653800	Weak transcription	Fetal Heart	heart
7	chr12:12626800-12640400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:12626800-12653600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:12627400-12640000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:12627600-12640200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:12627600-12642400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:12627800-12646200	Weak transcription	Fetal Brain Male	brain
13	chr12:12628400-12639800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:12628600-12647600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr12:12628800-12655800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr12:12630600-12641200	Weak transcription	HSMM	muscle
17	chr12:12630600-12661200	Weak transcription	NHEK	skin
18	chr12:12630800-12640000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:12630800-12640800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:12630800-12640800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:12630800-12641400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:12630800-12655800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr12:12630800-12658200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:12630800-12658400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr12:12630800-12659600	Weak transcription	Esophagus	oesophagus
26	chr12:12630800-12681000	Weak transcription	Colonic Mucosa	Colon
27	chr12:12631000-12645200	Weak transcription	Gastric	stomach
28	chr12:12631400-12641000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:12632800-12658200	Weak transcription	Ovary	ovary
30	chr12:12633000-12640800	Weak transcription	A549	lung
31	chr12:12633000-12658600	Weak transcription	Fetal Kidney	kidney
32	chr12:12633400-12648800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:12633600-12641400	Weak transcription	Osteobl	bone
34	chr12:12634400-12685200	Weak transcription	Hela-S3	cervix
35	chr12:12634800-12658800	Weak transcription	HSMMtube	muscle
36	chr12:12635000-12639800	Weak transcription	Brain Angular Gyrus	brain
37	chr12:12635000-12641200	Strong transcription	Fetal Muscle Leg	muscle
38	chr12:12635000-12647400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr12:12635400-12640000	Strong transcription	Fetal Stomach	stomach
40	chr12:12635600-12640400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr12:12635600-12644600	Weak transcription	K562	blood
42	chr12:12636000-12645600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:12636000-12653400	Weak transcription	Right Ventricle	heart
44	chr12:12636200-12655800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:12636600-12646200	Weak transcription	Primary B cells from cord blood	blood
46	chr12:12636800-12639800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr12:12636800-12640800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:12636800-12645400	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr12:12636800-12645600	Weak transcription	Spleen	Spleen
50	chr12:12636800-12647400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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