Variant report

Variant	rs11169723
Chromosome Location	chr12:51544116-51544117
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	chr12:51475882..51478954-chr12:51542218..51546767,4	K562	blood:
2	chr12:51476008..51478537-chr12:51543091..51546002,4	K562	blood:

Variant related genes	Relation type
ENSG00000110925	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11169725	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7488776	0.83[AFR][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	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
2	esv2762980	chr12:51527963-51561056	Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51477800-51550200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:51503200-51560200	Weak transcription	Right Ventricle	heart
3	chr12:51504800-51563400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:51510200-51554400	Weak transcription	K562	blood
5	chr12:51511400-51558800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr12:51513000-51565400	Weak transcription	Fetal Lung	lung
7	chr12:51517200-51547600	Weak transcription	Fetal Kidney	kidney
8	chr12:51517200-51554600	Weak transcription	HepG2	liver
9	chr12:51519000-51561600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:51519000-51565000	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:51519000-51565200	Weak transcription	Left Ventricle	heart
12	chr12:51519000-51565200	Weak transcription	Pancreas	Pancrea
13	chr12:51519000-51565800	Weak transcription	Esophagus	oesophagus
14	chr12:51519200-51544400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:51519200-51544600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr12:51519200-51554600	Weak transcription	NHDF-Ad	bronchial
17	chr12:51519200-51559600	Weak transcription	Lung	lung
18	chr12:51519200-51563800	Weak transcription	Fetal Brain Female	brain
19	chr12:51519200-51565000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr12:51519400-51550200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr12:51519400-51565200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr12:51521600-51565200	Weak transcription	HSMM	muscle
23	chr12:51523600-51544400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:51526000-51558800	Weak transcription	GM12878-XiMat	blood
25	chr12:51526800-51556400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:51527400-51565200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:51528200-51554600	Weak transcription	A549	lung
28	chr12:51530600-51564200	Weak transcription	Fetal Muscle Leg	muscle
29	chr12:51531200-51563400	Weak transcription	Hela-S3	cervix
30	chr12:51531800-51550200	Weak transcription	NHEK	skin
31	chr12:51531800-51554400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:51532000-51565000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr12:51532200-51550000	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr12:51532400-51544800	Weak transcription	Brain Anterior Caudate	brain
35	chr12:51532400-51564000	Weak transcription	Primary T cells from cord blood	blood
36	chr12:51532600-51544800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr12:51532600-51554400	Weak transcription	Brain Angular Gyrus	brain
38	chr12:51532600-51562000	Weak transcription	Ovary	ovary
39	chr12:51532600-51562800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr12:51532600-51564800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr12:51532600-51565200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr12:51532800-51563600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:51533000-51554600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:51533000-51563200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:51533200-51555800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr12:51533200-51561400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr12:51533200-51561400	Weak transcription	Placenta	Placenta
48	chr12:51533200-51564800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:51533400-51553600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr12:51533400-51560200	Weak transcription	Dnd41	blood

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