Variant report

Variant	rs4449323
Chromosome Location	chr3:69260140-69260141
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12494107	0.81[ASN][1000 genomes]
rs4378970	0.81[ASN][1000 genomes]
rs4586811	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59076594	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60802947	0.84[EUR][1000 genomes]
rs6549188	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6766537	0.81[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6775076	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6801597	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72930255	0.80[ASN][1000 genomes]
rs72932128	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72932134	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72932136	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][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	esv3398378	chr3:69240573-69271936	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69232000-69275600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:69242400-69281600	Weak transcription	Brain Germinal Matrix	brain
3	chr3:69242600-69268800	Weak transcription	Spleen	Spleen
4	chr3:69244000-69264800	Weak transcription	Fetal Brain Female	brain
5	chr3:69244200-69261800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr3:69246200-69266800	Weak transcription	HSMM	muscle
7	chr3:69249000-69263000	Weak transcription	Lung	lung
8	chr3:69250000-69261600	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr3:69250000-69263000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr3:69250000-69269200	Weak transcription	Thymus	Thymus
11	chr3:69250000-69272400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr3:69250000-69281600	Weak transcription	Esophagus	oesophagus
13	chr3:69250200-69262000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr3:69250200-69262800	Weak transcription	Fetal Stomach	stomach
15	chr3:69250200-69263200	Weak transcription	Dnd41	blood
16	chr3:69250200-69268800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr3:69250200-69268800	Weak transcription	Ovary	ovary
18	chr3:69250200-69286000	Weak transcription	Colonic Mucosa	Colon
19	chr3:69250400-69260200	Weak transcription	Fetal Muscle Leg	muscle
20	chr3:69250400-69264800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:69250400-69268400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr3:69250400-69280000	Weak transcription	Fetal Kidney	kidney
23	chr3:69253000-69266400	Weak transcription	Small Intestine	intestine
24	chr3:69253000-69297600	Weak transcription	Gastric	stomach
25	chr3:69253400-69260600	Weak transcription	Fetal Intestine Small	intestine
26	chr3:69253400-69277400	Weak transcription	Left Ventricle	heart
27	chr3:69253600-69260400	Weak transcription	Stomach Mucosa	stomach
28	chr3:69253600-69260800	Weak transcription	Brain Anterior Caudate	brain
29	chr3:69253600-69263400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr3:69253600-69266600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr3:69253600-69267600	Weak transcription	Placenta	Placenta
32	chr3:69254000-69260400	Weak transcription	Fetal Intestine Large	intestine
33	chr3:69254000-69260800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr3:69254000-69260800	Weak transcription	Brain Hippocampus Middle	brain
35	chr3:69254000-69260800	Weak transcription	Brain Substantia Nigra	brain
36	chr3:69254000-69280800	Weak transcription	Pancreas	Pancrea
37	chr3:69254000-69286000	Weak transcription	Right Ventricle	heart
38	chr3:69254200-69261800	Weak transcription	Brain Angular Gyrus	brain
39	chr3:69254200-69261800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr3:69254200-69263600	Weak transcription	HSMMtube	muscle
41	chr3:69254600-69261200	Weak transcription	NHEK	skin
42	chr3:69254600-69262800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr3:69254600-69299000	Weak transcription	Fetal Brain Male	brain
44	chr3:69255600-69260400	Strong transcription	HUVEC	blood vessel
45	chr3:69256000-69260800	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr3:69256000-69261600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr3:69256200-69261800	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr3:69256400-69260400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr3:69256600-69269200	Weak transcription	Adipose Nuclei	Adipose
50	chr3:69257000-69261000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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