Variant report

Variant	rs11169620
Chromosome Location	chr12:51319700-51319701
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:51319328..51321939-chr12:51438898..51441573,2	K562	blood:
2	chr12:51156231..51158960-chr12:51317356..51321250,3	K562	blood:

Variant related genes	Relation type
ENSG00000123268	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11169590	0.88[EUR][1000 genomes]
rs12311433	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12311437	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12312292	0.88[EUR][1000 genomes]
rs12317842	0.88[EUR][1000 genomes]
rs17125002	0.88[EUR][1000 genomes]
rs2579072	0.90[EUR][1000 genomes]
rs59396115	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61305556	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829127	0.90[EUR][1000 genomes]
rs864900	0.90[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51316600-51321400	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr12:51316600-51322000	Active TSS	Aorta	Aorta
3	chr12:51316600-51322000	Active TSS	Right Atrium	heart
4	chr12:51317200-51320800	Active TSS	Psoas Muscle	Psoas
5	chr12:51317600-51320400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr12:51317600-51320800	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr12:51317600-51321600	Active TSS	Sigmoid Colon	Sigmoid Colon
8	chr12:51317600-51321800	Active TSS	Brain Cingulate Gyrus	brain
9	chr12:51317600-51322800	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr12:51317600-51323200	Active TSS	Brain Substantia Nigra	brain
11	chr12:51317800-51321200	Active TSS	NHDF-Ad	bronchial
12	chr12:51317800-51321400	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr12:51317800-51321600	Active TSS	Colonic Mucosa	Colon
14	chr12:51317800-51321600	Active TSS	Left Ventricle	heart
15	chr12:51317800-51322000	Active TSS	Right Ventricle	heart
16	chr12:51317800-51322000	Active TSS	Stomach Smooth Muscle	stomach
17	chr12:51317800-51322400	Active TSS	Brain Anterior Caudate	brain
18	chr12:51317800-51322800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:51317800-51323000	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr12:51318000-51319800	Flanking Active TSS	Fetal Thymus	thymus
21	chr12:51318000-51320200	Active TSS	Fetal Lung	lung
22	chr12:51318000-51320400	Active TSS	H9 Cell Line	embryonic stem cell
23	chr12:51318000-51320400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:51318000-51320400	Active TSS	Fetal Intestine Large	intestine
25	chr12:51318000-51320400	Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr12:51318000-51321200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:51318000-51321200	Active TSS	Thymus	Thymus
28	chr12:51318000-51321600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:51318000-51321600	Active TSS	Brain Hippocampus Middle	brain
30	chr12:51318000-51321800	Active TSS	Lung	lung
31	chr12:51318000-51321800	Active TSS	Pancreas	Pancrea
32	chr12:51318000-51322000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:51318000-51322000	Active TSS	Brain Germinal Matrix	brain
34	chr12:51318000-51322000	Active TSS	Colon Smooth Muscle	Colon
35	chr12:51318000-51322200	Active TSS	Esophagus	oesophagus
36	chr12:51318000-51322200	Active TSS	NHLF	lung
37	chr12:51318000-51322400	Active TSS	Brain Angular Gyrus	brain
38	chr12:51318000-51322600	Active TSS	Ovary	ovary
39	chr12:51318200-51320000	Active TSS	Adipose Nuclei	Adipose
40	chr12:51318200-51320000	Active TSS	Monocytes-CD14+_RO01746	blood
41	chr12:51318200-51320200	Active TSS	Muscle Satellite Cultured Cells	--
42	chr12:51318200-51320200	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr12:51318200-51320400	Active TSS	Primary monocytes fromperipheralblood	blood
44	chr12:51318200-51320400	Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr12:51318200-51321200	Active TSS	Primary B cells from peripheral blood	blood
46	chr12:51318200-51321200	Active TSS	Duodenum Mucosa	Duodenum
47	chr12:51318200-51321600	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr12:51318200-51321600	Active TSS	Stomach Mucosa	stomach
49	chr12:51318200-51321800	Active TSS	Fetal Stomach	stomach
50	chr12:51318400-51320800	Active TSS	Small Intestine	intestine

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